PMEL

GENE INFORMATION

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Gene name

PMEL (HGNC Symbol)

Synonyms

D12S53E, gp100, Pmel17, SI, SIL, SILV

Description

Premelanosome protein (HGNC Symbol)

Entrez gene summary

This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]

Chromosome

12

Cytoband

q13.2

Chromosome location (bp)

56347889 - 56367101

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000185664 (version 75.37)

Entrez gene

6490

UniProt

P40967 (UniProt - Evidence at protein level)

neXtProt

NX_P40967

Antibodypedia

PMEL antibodies
 

PROTEIN VIEW

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 « 
 
PMEL-001
 
PMEL-002
 
PMEL-003
 
PMEL-004
 
PMEL-005
 
PMEL-007
 
PMEL-008
 
PMEL-012
 
PMEL-013
 
PMEL-015
 
PMEL-016
 
PMEL-017
 
PMEL-201
 
PMEL-202
 
PMEL-203
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PMEL-001 ENSP00000448828
ENST00000548747
P40967
Show all »
Show » Show » 661 70.3 Yes 1
PMEL-002 ENSP00000447374
ENST00000548493
P40967
Show all »
Show » Show » 661 70.3 Yes 1
PMEL-003 ENSP00000449690
ENST00000552882
P40967
Show all »
Show » Show » 661 70.3 Yes 1
PMEL-004 ENSP00000450036
ENST00000550464
P40967
Show all »
Show » Show » 575 60.6 Yes 1
PMEL-005 ENSP00000402758
ENST00000449260
P40967
Show all »
Show » Show » 668 70.9 Yes 1
PMEL-007 ENSP00000448029
ENST00000550447
F8VUB1
Show all »
Show » 290 30.8 Yes 1
PMEL-008 ENSP00000446633
ENST00000549418
F8VZV2
Show all »
Show » Show » 151 16.6 Yes 0
PMEL-012 ENSP00000448849
ENST00000547137
F8VXH8
Show all »
Show » Show » 344 36.7 Yes 0
PMEL-013 ENSP00000446662
ENST00000546543
F8W1D1
Show all »
Show » 299 32.3 Yes 0
PMEL-015 ENSP00000448871
ENST00000549233
F8VYZ1
Show all »
Show » 134 15 No 0
PMEL-016 ENSP00000447732
ENST00000548803
F8VZC6
Show all »
Show » Show » 296 31.7 Yes 0
PMEL-017 ENSP00000449520
ENST00000549404
Show » 452 47.4 No 0
PMEL-201 ENSP00000353940
ENST00000360714
J3KP45
Show all »
Show » 668 71 Yes 1
PMEL-202 ENSP00000438695
ENST00000536427
F5H2A6
Show all »
Show » 626 66.8 Yes 1
PMEL-203 ENSP00000445005
ENST00000539511
P40967
Show all »
Show » Show » 575 60.6 Yes 1