PMEL

Summary Top Help

Gene Description:

premelanosome protein

Synonyms:

P1, D10H12S53E, D12S53Eh, PMEL17, PMEL, ME20M, ME20-M, Silv, gp87, D12S53E, SIL, P100, SI, Si, ME20, Pmel, SILV, gp100, Pmel17

Orthologs:

Human PMEL (protein-coding), Mouse Pmel (protein-coding), Rat Pmel (protein-coding)

Sources

Overlapping regions from T1DBase Curated Regions Top Help

Regions Overlapping this Feature: Human: 1 Mouse: 1 Rat: 1

Associated Regions: 1 Available

Region	Species	Chromosomal Location	Mb	Number of genes	Marker
12q13.2	Human	chr12:56351346..56805309	0.45	26	rs2292239

Other Regions: 2 Available

Locus	Species	Chromosomal Location	Mb	Number of genes
Human 12q13.2 Orthologous Region	Mouse	chr10:127691143..128152417	0.46	28
Human 12q13.2 Orthologous Region	Rat	chr7:1562496..2014711	0.45	30

Gene Overview from Genome Browser Top Help

(Human) GRCh37 - chr12:56347889..56367099 (19.21 kb) View in Genome Browser

(Mouse) NCBIM37 - chr10:128143314..128157294 (13.98 kb) View in Genome Browser

(Rat) RGSC3.4 - chr7:2007882..2018998 (11.12 kb) View in Genome Browser

HaemAtlas Expression from HaemAtlas Top Help

HaemAtlas Expression Table for PMEL:

Beta Cell Expression from Beta Cell Gene Atlas Top Help

Cell Types Showing Expression: Available

Users should be aware that the scale represents a rank within an experiment rather than a normalized expression signal.

Human					Mouse			Rat
ductal cells	exocrine pancreas	pancreatic islets	primary beta cells	Pancreatic Islets MPSS	beta cell line	pancreatic islets	whole pancreas	alpha cell	beta cell line	pancreatic islets	primary beta cells	whole pancreas
										no data		no data

Expression Legend

Tissue Expression from GNF Gene Atlas Top Help

Tissues Showing Expression: Available

Users should be aware that the scale represents a rank within an experiment rather than a normalized expression signal.

Expression Legend

Interactions Top Help

Interactions: 0

Cross-Reference to Pathways and GO Terms Top Help

View all

KEGG Network: None available

Biocarta: None available

Reactome: None available

NCI-Nature Pathway Interaction Database: None available

Gene Ontology: 12

Publications from PubMed Top Help

Type 1 Diabetes Publications: 1

Publications: 104

MART-1- and gp100-expressing and -non-expressing melanoma cells are equally proliferative in tumors and clonogenic in vitro.
Aris M, Zubieta MR, Colombo M, Arriaga JM, Bianchini M, Alperovich M, Bravo AI, Barrio MM, Mordoh J
J Invest Dermatol. 2012
PubMed ID: 21993558
Probing fibril dissolution of the repeat domain of a functional amyloid, Pmel17, on the microscopic and residue level.
McGlinchey RP, Gruschus JM, Nagy A, Lee JC
Biochemistry. 2011
PubMed ID: 22092386
Mutations in or near the transmembrane domain alter PMEL amyloid formation from functional to pathogenic.
Watt B, Tenza D, Lemmon MA, Kerje S, Raposo G, Andersson L, Marks MS
PLoS Genet. 2011
PubMed ID: 21949659
Inactivation of Pmel alters melanosome shape but has only a subtle effect on visible pigmentation.
Hellström AR, Watt B, Fard SS, Tenza D, Mannström P, Narfström K, Ekesten B, Ito S, Wakamatsu K, Larsson J, Ulfendahl M, Kullander K, Raposo G, Kerje S, Hallböök F, Marks MS, Andersson L
PLoS Genet. 2011
PubMed ID: 21949658
A conditional knockout resource for the genome-wide study of mouse gene function.
Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A
Nature. 2011
PubMed ID: 21677750
The MADS box transcription factor MEF2C regulates melanocyte development and is a direct transcriptional target and partner of SOX10.
Agarwal P, Verzi MP, Nguyen T, Hu J, Ehlers ML, McCulley DJ, Xu SM, Dodou E, Anderson JP, Wei ML, Black BL
Development. 2011
PubMed ID: 21610032
Proprotein convertases process Pmel17 during secretion.
Leonhardt RM, Vigneron N, Rahner C, Cresswell P
J Biol Chem. 2011
PubMed ID: 21247888
Repeat domains of melanosome matrix protein Pmel17 orthologs form amyloid fibrils at the acidic melanosomal pH.
McGlinchey RP, Shewmaker F, Hu KN, McPhie P, Tycko R, Wickner RB
J Biol Chem. 2011
PubMed ID: 21148556
Effects of pH on aggregation kinetics of the repeat domain of a functional amyloid, Pmel17.
Pfefferkorn CM, McGlinchey RP, Lee JC
Proc Natl Acad Sci U S A. 2010
PubMed ID: 21106765
Endoplasmic reticulum export, subcellular distribution, and fibril formation by Pmel17 require an intact N-terminal domain junction.
Leonhardt RM, Vigneron N, Rahner C, Van den Eynde BJ, Cresswell P
J Biol Chem. 2010
PubMed ID: 20231267
The secreted form of a melanocyte membrane-bound glycoprotein (Pmel17/gp100) is released by ectodomain shedding.
Hoashi T, Tamaki K, Hearing VJ
FASEB J. 2010
PubMed ID: 19884326
N-terminal domains elicit formation of functional Pmel17 amyloid fibrils.
Watt B, van Niel G, Fowler DM, Hurbain I, Luk KC, Stayrook SE, Lemmon MA, Raposo G, Shorter J, Kelly JW, Marks MS
J Biol Chem. 2009
PubMed ID: 19840945
NRG1 / ERBB3 signaling in melanocyte development and melanoma: inhibition of differentiation and promotion of proliferation.
Buac K, Xu M, Cronin J, Weeraratna AT, Hewitt SM, Pavan WJ
Pigment Cell Melanoma Res. 2009
PubMed ID: 19659570
A mutation within the transmembrane domain of melanosomal protein Silver (Pmel17) changes lumenal fragment interactions.
Kuliawat R, Santambrogio L
Eur J Cell Biol. 2009
PubMed ID: 19679373
Comparison of melanoblast expression patterns identifies distinct classes of genes.
Loftus SK, Baxter LL, Buac K, Watkins-Chow DE, Larson DM, Pavan WJ
Pigment Cell Melanoma Res. 2009
PubMed ID: 19493314
Loss of Tbx2 delays optic vesicle invagination leading to small optic cups.
Behesti H, Papaioannou VE, Sowden JC
Dev Biol. 2009
PubMed ID: 19576202
The repeat domain of the melanosome fibril protein Pmel17 forms the amyloid core promoting melanin synthesis.
McGlinchey RP, Shewmaker F, McPhie P, Monterroso B, Thurber K, Wickner RB
Proc Natl Acad Sci U S A. 2009
PubMed ID: 19666488
Lineage-specific biology revealed by a finished genome assembly of the mouse.
Church DM, Goodstadt L, Hillier LW, Zody MC, Goldstein S, She X, Bult CJ, Agarwala R, Cherry JL, DiCuccio M, Hlavina W, Kapustin Y, Meric P, Maglott D, Birtle Z, Marques AC, Graves T, Zhou S, Teague B, Potamousis K, Churas C, Place M, Herschleb J, Runnheim R, Forrest D, Amos-Landgraf J, Schwartz DC, Cheng Z, Lindblad-Toh K, Eichler EE, Ponting CP, Mouse Genome Sequencing Consortium
PLoS Biol. 2009
PubMed ID: 19468303
Formation of Pmel17 amyloid is regulated by juxtamembrane metalloproteinase cleavage, and the resulting C-terminal fragment is a substrate for gamma-secretase.
Kummer MP, Maruyama H, Huelsmann C, Baches S, Weggen S, Koo EH
J Biol Chem. 2009
PubMed ID: 19047044
MHC class II presentation of gp100 epitopes in melanoma cells requires the function of conventional endosomes and is influenced by melanosomes.
Robila V, Ostankovitch M, Altrich-Vanlith ML, Theos AC, Drover S, Marks MS, Restifo N, Engelhard VH
J Immunol. 2008
PubMed ID: 19017974
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Hansen GM, Markesich DC, Burnett MB, Zhu Q, Dionne KM, Richter LJ, Finnell RH, Sands AT, Zambrowicz BP, Abuin A
Genome Res. 2008
PubMed ID: 18799693
Iris phenotypes and pigment dispersion caused by genes influencing pigmentation.
Anderson MG, Hawes NL, Trantow CM, Chang B, John SW
Pigment Cell Melanoma Res. 2008
PubMed ID: 18715234
Nuclear to non-nuclear Pmel17/gp100 expression (HMB45 staining) as a discriminator between benign and malignant melanocytic lesions.
Rothberg BE, Moeder CB, Kluger H, Halaban R, Elder DE, Murphy GF, Lazar A, Prieto V, Duncan LM, Rimm DL
Mod Pathol. 2008
PubMed ID: 18552823
Lack of functionally active Melan-A(26-35)-specific T cells in the blood of HLA-A2+ vitiligo patients.
Adams S, Lowes MA, O'Neill DW, Schachterle S, Romero P, Bhardwaj N
J Invest Dermatol. 2008
PubMed ID: 18337837
A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy.
Matera I, Watkins-Chow DE, Loftus SK, Hou L, Incao A, Silver DL, Rivas C, Elliott EC, Baxter LL, Pavan WJ
Hum Mol Genet. 2008
PubMed ID: 18397875
SLC45A2: a novel malignant melanoma-associated gene.
Fernandez LP, Milne RL, Pita G, Avilés JA, Lázaro P, Benítez J, Ribas G
Hum Mutat. 2008
PubMed ID: 18563784
Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type.
Hutton SM, Spritz RA
J Invest Dermatol. 2008
PubMed ID: 18463683
Toward a confocal subcellular atlas of the human proteome.
Barbe L, Lundberg E, Oksvold P, Stenius A, Lewin E, Björling E, Asplund A, Pontén F, Brismar H, Uhlén M, Andersson-Svahn H
Mol Cell Proteomics. 2008
PubMed ID: 18029348
The secreted metalloprotease ADAMTS20 is required for melanoblast survival.
Silver DL, Hou L, Somerville R, Young ME, Apte SS, Pavan WJ
PLoS Genet. 2008
PubMed ID: 18454205
Premelanosome amyloid-like fibrils are composed of only golgi-processed forms of Pmel17 that have been proteolytically processed in endosomes.
Harper DC, Theos AC, Herman KE, Tenza D, Raposo G, Marks MS
J Biol Chem. 2008
PubMed ID: 17991747
Multimarker real-time reverse transcription-PCR for quantitative detection of melanoma-associated antigens: a novel possible staging method.
Arenberger P, Arenbergerova M, Gkalpakiotis S, Lippert J, Stribrna J, Kremen J
J Eur Acad Dermatol Venereol. 2008
PubMed ID: 18181974
Rab7 regulates maturation of melanosomal matrix protein gp100/Pmel17/Silv.
Kawakami A, Sakane F, Imai S, Yasuda S, Kai M, Kanoh H, Jin HY, Hirosaki K, Yamashita T, Fisher DE, Jimbow K
J Invest Dermatol. 2008
PubMed ID: 17625594
Sialylated core 1 O-glycans influence the sorting of Pmel17/gp100 and determine its capacity to form fibrils.
Valencia JC, Rouzaud F, Julien S, Chen KG, Passeron T, Yamaguchi Y, Abu-Asab M, Tsokos M, Costin GE, Yamaguchi H, Jenkins LM, Nagashima K, Appella E, Hearing VJ
J Biol Chem. 2007
PubMed ID: 17303571
Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.
Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF
J Proteome Res. 2006
PubMed ID: 17081065
Dual loss of ER export and endocytic signals with altered melanosome morphology in the silver mutation of Pmel17.
Theos AC, Berson JF, Theos SC, Herman KE, Harper DC, Tenza D, Sviderskaya EV, Lamoreux ML, Bennett DC, Raposo G, Marks MS
Mol Biol Cell. 2006
PubMed ID: 16760433
The repeat domain of the melanosomal matrix protein PMEL17/GP100 is required for the formation of organellar fibers.
Hoashi T, Muller J, Vieira WD, Rouzaud F, Kikuchi K, Tamaki K, Hearing VJ
J Biol Chem. 2006
PubMed ID: 16682408
Pmel17: controversial indeed but critical to melanocyte function.
Valencia JC, Hoashi T, Pawelek JM, Solano F, Hearing VJ
Pigment Cell Res. 2006
PubMed ID: 16704461
The finished DNA sequence of human chromosome 12.
Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC, Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C, Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ, Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q, Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V, Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE, Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I, Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C, Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM, Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A, Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M, Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M, Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM, Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua P, Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG, Mendez S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E, Mitchell T, Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris S, Munidasa M, Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO, Nwokenkwo S, Obregon M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ, Parker DN, Parrish J, Parks KL, Paul HA, Payton BA, Perez A, Perrin W, Pickens A, Primus EL, Pu LL, Puazo M, Quiles MM, Quiroz JB, Rabata D, Reeves K, Ruiz SJ, Shao H, Sisson I, Sonaike T, Sorelle RP, Sutton AE, Svatek AF, Svetz LA, Tamerisa KS, Taylor TR, Teague B, Thomas N, Thorn RD, Trejos ZY, Trevino BK, Ukegbu ON, Urban JB, Vasquez LI, Vera VA, Villasana DM, Wang L, Ward-Moore S, Warren JT, Wei X, White F, Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen J, Yoon L, Yoon V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock G, Gibbs RA, Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team
Nature. 2006
PubMed ID: 16541075
Sorting of Pmel17 to melanosomes through the plasma membrane by AP1 and AP2: evidence for the polarized nature of melanocytes.
Valencia JC, Watabe H, Chi A, Rouzaud F, Chen KG, Vieira WD, Takahashi K, Yamaguchi Y, Berens W, Nagashima K, Shabanowitz J, Hunt DF, Appella E, Hearing VJ
J Cell Sci. 2006
PubMed ID: 16492709
A lumenal domain-dependent pathway for sorting to intralumenal vesicles of multivesicular endosomes involved in organelle morphogenesis.
Theos AC, Truschel ST, Tenza D, Hurbain I, Harper DC, Berson JF, Thomas PC, Raposo G, Marks MS
Dev Cell. 2006
PubMed ID: 16516837
Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage.
Hakami RM, Hou L, Baxter LL, Loftus SK, Southard-Smith EM, Incao A, Cheng J, Pavan WJ
Mech Dev. 2006
PubMed ID: 16412618
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S
Genome Res. 2006
PubMed ID: 16344560
Altered melanocyte differentiation and retinal pigmented epithelium transdifferentiation induced by Mash1 expression in pigment cell precursors.
Lanning JL, Wallace JS, Zhang D, Diwakar G, Jiao Z, Hornyak TJ
J Invest Dermatol. 2005
PubMed ID: 16185282
Antisense transcription in the mammalian transcriptome.
Katayama S, Tomaru Y, Kasukawa T, Waki K, Nakanishi M, Nakamura M, Nishida H, Yap CC, Suzuki M, Kawai J, Suzuki H, Carninci P, Hayashizaki Y, Wells C, Frith M, Ravasi T, Pang KC, Hallinan J, Mattick J, Hume DA, Lipovich L, Batalov S, Engström PG, Mizuno Y, Faghihi MA, Sandelin A, Chalk AM, Mottagui-Tabar S, Liang Z, Lenhard B, Wahlestedt C, RIKEN Genome Exploration Research Group, Genome Science Group (Genome Network Project Core Group), FANTOM Consortium
Science. 2005
PubMed ID: 16141073
The transcriptional landscape of the mammalian genome.
Carninci P, Kasukawa T, Katayama S, Gough J, Frith MC, Maeda N, Oyama R, Ravasi T, Lenhard B, Wells C, Kodzius R, Shimokawa K, Bajic VB, Brenner SE, Batalov S, Forrest AR, Zavolan M, Davis MJ, Wilming LG, Aidinis V, Allen JE, Ambesi-Impiombato A, Apweiler R, Aturaliya RN, Bailey TL, Bansal M, Baxter L, Beisel KW, Bersano T, Bono H, Chalk AM, Chiu KP, Choudhary V, Christoffels A, Clutterbuck DR, Crowe ML, Dalla E, Dalrymple BP, de Bono B, Della Gatta G, di Bernardo D, Down T, Engstrom P, Fagiolini M, Faulkner G, Fletcher CF, Fukushima T, Furuno M, Futaki S, Gariboldi M, Georgii-Hemming P, Gingeras TR, Gojobori T, Green RE, Gustincich S, Harbers M, Hayashi Y, Hensch TK, Hirokawa N, Hill D, Huminiecki L, Iacono M, Ikeo K, Iwama A, Ishikawa T, Jakt M, Kanapin A, Katoh M, Kawasawa Y, Kelso J, Kitamura H, Kitano H, Kollias G, Krishnan SP, Kruger A, Kummerfeld SK, Kurochkin IV, Lareau LF, Lazarevic D, Lipovich L, Liu J, Liuni S, McWilliam S, Madan Babu M, Madera M, Marchionni L, Matsuda H, Matsuzawa S, Miki H, Mignone F, Miyake S, Morris K, Mottagui-Tabar S, Mulder N, Nakano N, Nakauchi H, Ng P, Nilsson R, Nishiguchi S, Nishikawa S, Nori F, Ohara O, Okazaki Y, Orlando V, Pang KC, Pavan WJ, Pavesi G, Pesole G, Petrovsky N, Piazza S, Reed J, Reid JF, Ring BZ, Ringwald M, Rost B, Ruan Y, Salzberg SL, Sandelin A, Schneider C, Schönbach C, Sekiguchi K, Semple CA, Seno S, Sessa L, Sheng Y, Shibata Y, Shimada H, Shimada K, Silva D, Sinclair B, Sperling S, Stupka E, Sugiura K, Sultana R, Takenaka Y, Taki K, Tammoja K, Tan SL, Tang S, Taylor MS, Tegner J, Teichmann SA, Ueda HR, van Nimwegen E, Verardo R, Wei CL, Yagi K, Yamanishi H, Zabarovsky E, Zhu S, Zimmer A, Hide W, Bult C, Grimmond SM, Teasdale RD, Liu ET, Brusic V, Quackenbush J, Wahlestedt C, Mattick JS, Hume DA, Kai C, Sasaki D, Tomaru Y, Fukuda S, Kanamori-Katayama M, Suzuki M, Aoki J, Arakawa T, Iida J, Imamura K, Itoh M, Kato T, Kawaji H, Kawagashira N, Kawashima T, Kojima M, Kondo S, Konno H, Nakano K, Ninomiya N, Nishio T, Okada M, Plessy C, Shibata K, Shiraki T, Suzuki S, Tagami M, Waki K, Watahiki A, Okamura-Oho Y, Suzuki H, Kawai J, Hayashizaki Y, FANTOM Consortium, RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group)
Science. 2005
PubMed ID: 16141072
Mouse models of ocular diseases.
Chang B, Hawes NL, Hurd RE, Wang J, Howell D, Davisson MT, Roderick TH, Nusinowitz S, Heckenlively JR
Vis Neurosci. 2005
PubMed ID: 16332269
MART-1 is required for the function of the melanosomal matrix protein PMEL17/GP100 and the maturation of melanosomes.
Hoashi T, Watabe H, Muller J, Yamaguchi Y, Vieira WD, Hearing VJ
J Biol Chem. 2005
PubMed ID: 15695812
Gene and alternative splicing annotation with AIR.
Florea L, Di Francesco V, Miller J, Turner R, Yao A, Harris M, Walenz B, Mobarry C, Merkulov GV, Charlab R, Dew I, Deng Z, Istrail S, Li P, Sutton G
Genome Res. 2005
PubMed ID: 15632090
Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas.
Watahiki A, Waki K, Hayatsu N, Shiraki T, Kondo S, Nakamura M, Sasaki D, Arakawa T, Kawai J, Harbers M, Hayashizaki Y, Carninci P
Nat Methods. 2004
PubMed ID: 15782199
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Morrin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J, MGC Project Team
Genome Res. 2004
PubMed ID: 15489334
Epitope mapping of the melanosomal matrix protein gp100 (PMEL17): rapid processing in the endoplasmic reticulum and glycosylation in the early Golgi compartment.
Yasumoto K, Watabe H, Valencia JC, Kushimoto T, Kobayashi T, Appella E, Hearing VJ
J Biol Chem. 2004
PubMed ID: 15096515
An antigenic peptide produced by peptide splicing in the proteasome.
Vigneron N, Stroobant V, Chapiro J, Ooms A, Degiovanni G, Morel S, van der Bruggen P, Boon T, Van den Eynde BJ
Science. 2004
PubMed ID: 15001714
Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
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Nature. 2004
PubMed ID: 15057822
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S
Nat Genet. 2004
PubMed ID: 14702039
Pmel17 expression is Mitf-dependent and reveals cranial melanoblast migration during murine development.
Baxter LL, Pavan WJ
Gene Expr Patterns. 2003
PubMed ID: 14643677
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Zambrowicz BP, Abuin A, Ramirez-Solis R, Richter LJ, Piggott J, BeltrandelRio H, Buxton EC, Edwards J, Finch RA, Friddle CJ, Gupta A, Hansen G, Hu Y, Huang W, Jaing C, Key BW, Kipp P, Kohlhauff B, Ma ZQ, Markesich D, Payne R, Potter DG, Qian N, Shaw J, Schrick J, Shi ZZ, Sparks MJ, Van Sligtenhorst I, Vogel P, Walke W, Xu N, Zhu Q, Person C, Sands AT
Proc Natl Acad Sci U S A. 2003
PubMed ID: 14610273
A novel splice variant of Pmel17 expressed by human melanocytes and melanoma cells lacking some of the internal repeats.
Nichols SE, Harper DC, Berson JF, Marks MS
J Invest Dermatol. 2003
PubMed ID: 14632201
Cytotoxic T lymphocyte reactivity to gp100, MelanA/MART-1, and tyrosinase, in HLA-A2-positive vitiligo patients.
Mandelcorn-Monson RL, Shear NH, Yau E, Sambhara S, Barber BH, Spaner D, DeBenedette MA
J Invest Dermatol. 2003
PubMed ID: 12925214
MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma.
Du J, Miller AJ, Widlund HR, Horstmann MA, Ramaswamy S, Fisher DE
Am J Pathol. 2003
PubMed ID: 12819038
Proprotein convertase cleavage liberates a fibrillogenic fragment of a resident glycoprotein to initiate melanosome biogenesis.
Berson JF, Theos AC, Harper DC, Tenza D, Raposo G, Marks MS
J Cell Biol. 2003
PubMed ID: 12732614
Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.
Basrur V, Yang F, Kushimoto T, Higashimoto Y, Yasumoto K, Valencia J, Muller J, Vieira WD, Watabe H, Shabanowitz J, Hearing VJ, Hunt DF, Appella E
J Proteome Res. 2003
PubMed ID: 12643545
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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Proc Natl Acad Sci U S A. 2002
PubMed ID: 12477932
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Okazaki Y, Furuno M, Kasukawa T, Adachi J, Bono H, Kondo S, Nikaido I, Osato N, Saito R, Suzuki H, Yamanaka I, Kiyosawa H, Yagi K, Tomaru Y, Hasegawa Y, Nogami A, Schönbach C, Gojobori T, Baldarelli R, Hill DP, Bult C, Hume DA, Quackenbush J, Schriml LM, Kanapin A, Matsuda H, Batalov S, Beisel KW, Blake JA, Bradt D, Brusic V, Chothia C, Corbani LE, Cousins S, Dalla E, Dragani TA, Fletcher CF, Forrest A, Frazer KS, Gaasterland T, Gariboldi M, Gissi C, Godzik A, Gough J, Grimmond S, Gustincich S, Hirokawa N, Jackson IJ, Jarvis ED, Kanai A, Kawaji H, Kawasawa Y, Kedzierski RM, King BL, Konagaya A, Kurochkin IV, Lee Y, Lenhard B, Lyons PA, Maglott DR, Maltais L, Marchionni L, McKenzie L, Miki H, Nagashima T, Numata K, Okido T, Pavan WJ, Pertea G, Pesole G, Petrovsky N, Pillai R, Pontius JU, Qi D, Ramachandran S, Ravasi T, Reed JC, Reed DJ, Reid J, Ring BZ, Ringwald M, Sandelin A, Schneider C, Semple CA, Setou M, Shimada K, Sultana R, Takenaka Y, Taylor MS, Teasdale RD, Tomita M, Verardo R, Wagner L, Wahlestedt C, Wang Y, Watanabe Y, Wells C, Wilming LG, Wynshaw-Boris A, Yanagisawa M, Yang I, Yang L, Yuan Z, Zavolan M, Zhu Y, Zimmer A, Carninci P, Hayatsu N, Hirozane-Kishikawa T, Konno H, Nakamura M, Sakazume N, Sato K, Shiraki T, Waki K, Kawai J, Aizawa K, Arakawa T, Fukuda S, Hara A, Hashizume W, Imotani K, Ishii Y, Itoh M, Kagawa I, Miyazaki A, Sakai K, Sasaki D, Shibata K, Shinagawa A, Yasunishi A, Yoshino M, Waterston R, Lander ES, Rogers J, Birney E, Hayashizaki Y, FANTOM Consortium, RIKEN Genome Exploration Research Group Phase I & II Team
Nature. 2002
PubMed ID: 12466851
A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome.
Mural RJ, Adams MD, Myers EW, Smith HO, Miklos GL, Wides R, Halpern A, Li PW, Sutton GG, Nadeau J, Salzberg SL, Holt RA, Kodira CD, Lu F, Chen L, Deng Z, Evangelista CC, Gan W, Heiman TJ, Li J, Li Z, Merkulov GV, Milshina NV, Naik AK, Qi R, Shue BC, Wang A, Wang J, Wang X, Yan X, Ye J, Yooseph S, Zhao Q, Zheng L, Zhu SC, Biddick K, Bolanos R, Delcher AL, Dew IM, Fasulo D, Flanigan MJ, Huson DH, Kravitz SA, Miller JR, Mobarry CM, Reinert K, Remington KA, Zhang Q, Zheng XH, Nusskern DR, Lai Z, Lei Y, Zhong W, Yao A, Guan P, Ji RR, Gu Z, Wang ZY, Zhong F, Xiao C, Chiang CC, Yandell M, Wortman JR, Amanatides PG, Hladun SL, Pratts EC, Johnson JE, Dodson KL, Woodford KJ, Evans CA, Gropman B, Rusch DB, Venter E, Wang M, Smith TJ, Houck JT, Tompkins DE, Haynes C, Jacob D, Chin SH, Allen DR, Dahlke CE, Sanders R, Li K, Liu X, Levitsky AA, Majoros WH, Chen Q, Xia AC, Lopez JR, Donnelly MT, Newman MH, Glodek A, Kraft CL, Nodell M, Ali F, An HJ, Baldwin-Pitts D, Beeson KY, Cai S, Carnes M, Carver A, Caulk PM, Center A, Chen YH, Cheng ML, Coyne MD, Crowder M, Danaher S, Davenport LB, Desilets R, Dietz SM, Doup L, Dullaghan P, Ferriera S, Fosler CR, Gire HC, Gluecksmann A, Gocayne JD, Gray J, Hart B, Haynes J, Hoover J, Howland T, Ibegwam C, Jalali M, Johns D, Kline L, Ma DS, MacCawley S, Magoon A, Mann F, May D, McIntosh TC, Mehta S, Moy L, Moy MC, Murphy BJ, Murphy SD, Nelson KA, Nuri Z, Parker KA, Prudhomme AC, Puri VN, Qureshi H, Raley JC, Reardon MS, Regier MA, Rogers YH, Romblad DL, Schutz J, Scott JL, Scott R, Sitter CD, Smallwood M, Sprague AC, Stewart E, Strong RV, Suh E, Sylvester K, Thomas R, Tint NN, Tsonis C, Wang G, Wang G, Williams MS, Williams SM, Windsor SM, Wolfe K, Wu MM, Zaveri J, Chaturvedi K, Gabrielian AE, Ke Z, Sun J, Subramanian G, Venter JC, Pfannkoch CM, Barnstead M, Stephenson LD
Science. 2002
PubMed ID: 12040188
Identification of a novel gp100/pMel17 peptide presented by HLA-A*6801 and recognized on human melanoma by cytolytic T cell clones.
Sensi M, Pellegatta S, Vegetti C, Nicolini G, Parmiani G, Anichini A
Tissue Antigens. 2002
PubMed ID: 12135425
Pmel17 initiates premelanosome morphogenesis within multivesicular bodies.
Berson JF, Harper DC, Tenza D, Raposo G, Marks MS
Mol Biol Cell. 2001
PubMed ID: 11694580
Production of melanocyte-specific antibodies to human melanosomal proteins: expression patterns in normal human skin and in cutaneous pigmented lesions.
Virador V, Matsunaga N, Matsunaga J, Valencia J, Oldham RJ, Kameyama K, Peck GL, Ferrans VJ, Vieira WD, Abdel-Malek ZA, Hearing VJ
Pigment Cell Res. 2001
PubMed ID: 11549113
Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells.
Raposo G, Tenza D, Murphy DM, Berson JF, Marks MS
J Cell Biol. 2001
PubMed ID: 11266471
Rab27a regulates the peripheral distribution of melanosomes in melanocytes.
Hume AN, Collinson LM, Rapak A, Gomes AQ, Hopkins CR, Seabra MC
J Cell Biol. 2001
PubMed ID: 11266470
Functional annotation of a full-length mouse cDNA collection.
Kawai J, Shinagawa A, Shibata K, Yoshino M, Itoh M, Ishii Y, Arakawa T, Hara A, Fukunishi Y, Konno H, Adachi J, Fukuda S, Aizawa K, Izawa M, Nishi K, Kiyosawa H, Kondo S, Yamanaka I, Saito T, Okazaki Y, Gojobori T, Bono H, Kasukawa T, Saito R, Kadota K, Matsuda H, Ashburner M, Batalov S, Casavant T, Fleischmann W, Gaasterland T, Gissi C, King B, Kochiwa H, Kuehl P, Lewis S, Matsuo Y, Nikaido I, Pesole G, Quackenbush J, Schriml LM, Staubli F, Suzuki R, Tomita M, Wagner L, Washio T, Sakai K, Okido T, Furuno M, Aono H, Baldarelli R, Barsh G, Blake J, Boffelli D, Bojunga N, Carninci P, de Bonaldo MF, Brownstein MJ, Bult C, Fletcher C, Fujita M, Gariboldi M, Gustincich S, Hill D, Hofmann M, Hume DA, Kamiya M, Lee NH, Lyons P, Marchionni L, Mashima J, Mazzarelli J, Mombaerts P, Nordone P, Ring B, Ringwald M, Rodriguez I, Sakamoto N, Sasaki H, Sato K, Schönbach C, Seya T, Shibata Y, Storch KF, Suzuki H, Toyo-oka K, Wang KH, Weitz C, Whittaker C, Wilming L, Wynshaw-Boris A, Yoshida K, Hasegawa Y, Kawaji H, Kohtsuki S, Hayashizaki Y, RIKEN Genome Exploration Research Group Phase II Team and the FANTOM Consortium
Nature. 2001
PubMed ID: 11217851
Interaction of major coat color gene functions in mice as studied by chemical analysis of eumelanin and pheomelanin.
Lamoreux ML, Wakamatsu K, Ito S
Pigment Cell Res. 2001
PubMed ID: 11277491
RIKEN integrated sequence analysis (RISA) system--384-format sequencing pipeline with 384 multicapillary sequencer.
Shibata K, Itoh M, Aizawa K, Nagaoka S, Sasaki N, Carninci P, Konno H, Akiyama J, Nishi K, Kitsunai T, Tashiro H, Itoh M, Sumi N, Ishii Y, Nakamura S, Hazama M, Nishine T, Harada A, Yamamoto R, Matsumoto H, Sakaguchi S, Ikegami T, Kashiwagi K, Fujiwake S, Inoue K, Togawa Y
Genome Res. 2000
PubMed ID: 11076861
Normalization and subtraction of cap-trapper-selected cDNAs to prepare full-length cDNA libraries for rapid discovery of new genes.
Carninci P, Shibata Y, Hayatsu N, Sugahara Y, Shibata K, Itoh M, Konno H, Okazaki Y, Muramatsu M, Hayashizaki Y
Genome Res. 2000
PubMed ID: 11042159
Characterization, expression analysis and chromosomal mapping of mouse matrix metalloproteinase-19 (MMP-19).
Caterina JJ, Shi J, Kozak CA, Engler JA, Birkedal-Hansen H
Mol Biol Rep. 2000
PubMed ID: 11092553
The mouse silver locus encodes a single transcript truncated by the silver mutation.
Martínez-Esparza M, Jiménez-Cervantes C, Bennett DC, Lozano JA, Solano F, García-Borrón JC
Mamm Genome. 1999
PubMed ID: 10594241
Detection of melanoma micrometastases in the sentinel lymph node and in nonsentinel nodes by tyrosinase polymerase chain reaction.
Lukowsky A, Bellmann B, Ringk A, Winter H, Audring H, Fenske S, Sterry W
J Invest Dermatol. 1999
PubMed ID: 10504440
High-efficiency full-length cDNA cloning.
Carninci P, Hayashizaki Y
Methods Enzymol. 1999
PubMed ID: 10349636
Translation of a retained intron in tyrosinase-related protein (TRP) 2 mRNA generates a new cytotoxic T lymphocyte (CTL)-defined and shared human melanoma antigen not expressed in normal cells of the melanocytic lineage.
Lupetti R, Pisarra P, Verrecchia A, Farina C, Nicolini G, Anichini A, Bordignon C, Sensi M, Parmiani G, Traversari C
J Exp Med. 1998
PubMed ID: 9743519
Polymerase chain reaction detection of melanoma cells in the circulation: relation to clinical stage, surgical treatment, and recurrence from melanoma.
Curry BJ, Myers K, Hersey P
J Clin Oncol. 1998
PubMed ID: 9586889
Analysis of Pmel17/gp100 expression in primary human tissue specimens: implications for melanoma immuno- and gene-therapy.
Wagner SN, Wagner C, Schultewolter T, Goos M
Cancer Immunol Immunother. 1997
PubMed ID: 9222283
Molecular detection of tumor-associated antigens shared by human cutaneous melanomas and gliomas.
Chi DD, Merchant RE, Rand R, Conrad AJ, Garrison D, Turner R, Morton DL, Hoon DS
Am J Pathol. 1997
PubMed ID: 9176405
Cloning and characterization of the genes encoding the murine homologues of the human melanoma antigens MART1 and gp100.
Zhai Y, Yang JC, Spiess P, Nishimura MI, Overwijk WW, Roberts B, Restifo NP, Rosenberg SA
J Immunother. 1997
PubMed ID: 9101410
Characterization and subcellular localization of human Pmel 17/silver, a 110-kDa (pre)melanosomal membrane protein associated with 5,6,-dihydroxyindole-2-carboxylic acid (DHICA) converting activity.
Lee ZH, Hou L, Moellmann G, Kuklinska E, Antol K, Fraser M, Halaban R, Kwon BS
J Invest Dermatol. 1996
PubMed ID: 8617992
Polymerization of 5,6-dihydroxyindole-2-carboxylic acid to melanin by the pmel 17/silver locus protein.
Chakraborty AK, Platt JT, Kim KK, Kwon BS, Bennett DC, Pawelek JM
Eur J Biochem. 1996
PubMed ID: 8617263
Genomic organization and FISH mapping of human Pmel 17, the putative silver locus.
Kim KK, Youn BS, Heng HH, Shi XM, Tsui LC, Lee ZH, Pickard RT, Kwon BS
Pigment Cell Res. 1996
PubMed ID: 8739560
The chromosomal distribution of mouse odorant receptor genes.
Sullivan SL, Adamson MC, Ressler KJ, Kozak CA, Buck LB
Proc Natl Acad Sci U S A. 1996
PubMed ID: 8570653
Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus.
Bailin T, Lee ST, Spritz RA
J Invest Dermatol. 1996
PubMed ID: 8592076
Changes in expression of putative antigens encoded by pigment genes in mouse melanomas at different stages of malignant progression.
Orlow SJ, Hearing VJ, Sakai C, Urabe K, Zhou BK, Silvers WK, Mintz B
Proc Natl Acad Sci U S A. 1995
PubMed ID: 7479744
Chemical characterization of hair melanins in various coat-color mutants of mice.
Ozeki H, Ito S, Wakamatsu K, Hirobe T
J Invest Dermatol. 1995
PubMed ID: 7665913
beta-1,4-N-Acetylgalactosaminyltransferase involved in ganglioside synthesis: cDNA sequence, expression, and chromosome mapping of the mouse gene.
Sango K, Johnson ON, Kozak CA, Proia RL
Genomics. 1995
PubMed ID: 7558008
Defects of pelage hairs in 20 mouse mutations.
Hogan ME, King LE, Sundberg JP
J Invest Dermatol. 1995
PubMed ID: 7738386
Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17.
Kwon BS, Halaban R, Ponnazhagan S, Kim K, Chintamaneni C, Bennett D, Pickard RT
Nucleic Acids Res. 1995
PubMed ID: 7870580
Characterization of mouse Pmel 17 gene and silver locus.
Kwon BS, Kim KK, Halaban R, Pickard RT
Pigment Cell Res. 1994
PubMed ID: 7761347
The Pmel 17/silver locus protein. Characterization and investigation of its melanogenic function.
Kobayashi T, Urabe K, Orlow SJ, Higashi K, Imokawa G, Kwon BS, Potterf B, Hearing VJ
J Biol Chem. 1994
PubMed ID: 7961886
Molecular characterization of the melanocyte lineage-specific antigen gp100.
Adema GJ, de Boer AJ, Vogel AM, Loenen WA, Figdor CG
J Biol Chem. 1994
PubMed ID: 7519602
Identification of a melanosomal matrix protein encoded by the murine si (silver) locus using "organelle scanning".
Zhou BK, Kobayashi T, Donatien PD, Bennett DC, Hearing VJ, Orlow SJ
Proc Natl Acad Sci U S A. 1994
PubMed ID: 8041749
Identification of a human melanoma antigen recognized by tumor-infiltrating lymphocytes associated with in vivo tumor rejection.
Kawakami Y, Eliyahu S, Delgado CH, Robbins PF, Sakaguchi K, Appella E, Yannelli JR, Adema GJ, Miki T, Rosenberg SA
Proc Natl Acad Sci U S A. 1994
PubMed ID: 8022805
Cloning and expression of the gene for the melanoma-associated ME20 antigen.
Maresh GA, Marken JS, Neubauer M, Aruffo A, Hellström I, Hellström KE, Marquardt H
DNA Cell Biol. 1994
PubMed ID: 8179825
Identification, chromosomal location, and genome organization of mammalian G-protein-coupled receptors.
Wilkie TM, Chen Y, Gilbert DJ, Moore KJ, Yu L, Simon MI, Copeland NG, Jenkins NA
Genomics. 1993
PubMed ID: 8288218
Pigmentation genes: the tyrosinase gene family and the pmel 17 gene family.
Kwon BS
J Invest Dermatol. 1993
PubMed ID: 8432998
Structural characterization of SIL, a gene frequently disrupted in T-cell acute lymphoblastic leukemia.
Aplan PD, Lombardi DP, Kirsch IR
Mol Cell Biol. 1991
PubMed ID: 1922059
A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12.
Kwon BS, Chintamaneni C, Kozak CA, Copeland NG, Gilbert DJ, Jenkins N, Barton D, Francke U, Kobayashi Y, Kim KK
Proc Natl Acad Sci U S A. 1991
PubMed ID: 1924386
Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha.
Swank RT, Reddington M, Howlett O, Novak EK
Blood. 1991
PubMed ID: 1912584
Disruption of the human SCL locus by "illegitimate" V-(D)-J recombinase activity.
Aplan PD, Lombardi DP, Ginsberg AM, Cossman J, Bertness VL, Kirsch IR
Science. 1990
PubMed ID: 2255914

Model Organism Phenotype Links from MGI Top Help

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	Human	Mouse	Rat
Entrez Gene	6490	20431	362818
EnsEMBL Gene(s)	ENSG00000185664	ENSMUSG00000025359	ENSRNOG00000023085
Unigene	Hs.95972	Mm.16756	Rn.162910
Homologene	PMEL	Pmel	Pmel
OMIM	155550	N/A	N/A
GeneCards	PMEL	N/A	N/A
Beta Cell Genomics	DT.100033715 DT.100787523 DT.95214910	DT.103567469 DT.486900	N/A
Reactome	N/A	N/A	N/A
Plasma Peptide Atlas	N/A	N/A	N/A
WikiGenes	6490	20431	362818

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