Version 5.4
Homo sapiens Gene: PMEL
Summary
InnateDB Gene IDBG-39485.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PMEL
Gene Name premelanosome protein
Synonyms D12S53E; gp100; ME20; ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV
Species Homo sapiens
Ensembl Gene ENSG00000185664
Encoded Proteins
IDBP-377424
premelanosome protein
IDBP-592710
premelanosome protein
IDBP-583564
premelanosome protein
IDBP-594401
premelanosome protein
IDBP-583815
premelanosome protein
IDBP-589794
premelanosome protein
IDBP-588630
premelanosome protein
IDBP-594632
premelanosome protein
IDBP-583317
premelanosome protein
IDBP-586609
premelanosome protein
IDBP-589276
premelanosome protein
IDBP-588780
premelanosome protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:55954105-55973317
Strand Reverse strand
Band q13.2
Transcripts
ENST00000449260 ENSP00000402758
ENST00000552882 ENSP00000449690
ENST00000550464 ENSP00000450036
ENST00000548747 ENSP00000448828
ENST00000548493 ENSP00000447374
ENST00000550447 ENSP00000448029
ENST00000549564
ENST00000549404 ENSP00000449520
ENST00000550762
ENST00000548803 ENSP00000447732
ENST00000547137 ENSP00000448849
ENST00000546543 ENSP00000446662
ENST00000556802
ENST00000548689
ENST00000550590
ENST00000549430
ENST00000549418 ENSP00000446633
ENST00000549233 ENSP00000448871
ENST00000549413
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 0
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0032438 melanosome organization
GO:0042438 melanin biosynthetic process
Cellular Component
GO:0005576 extracellular region
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0032585 multivesicular body membrane
GO:0042470 melanosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025359
View Gene Order
ENSBTAG00000004019
Not yet available
Cross-References
SwissProt
TrEMBL F8VZC6 F8VZV2
UniProt Splice Variant
Entrez Gene 6490
UniGene Hs.95972
RefSeq NM_001200053 NM_001200054 NM_006928 XM_006719568 XM_006719569
HUGO HGNC:10880
OMIM 155550
CCDS CCDS55833 CCDS55834 CCDS8897
HPRD 01117
IMGT
EMBL AC025162 AC034102
GenPept
RNA Seq Atlas 6490

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca