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
premelanosome protein
premelanosome protein
premelanosome protein
premelanosome protein
premelanosome protein
premelanosome protein
premelanosome protein
premelanosome protein
premelanosome protein
premelanosome protein
premelanosome protein
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt P40967
TrEMBL F8VZV2
UniProt Splice Variant
Entrez Gene 6490
UniGene Hs.95972
RefSeq XM_006719569 NM_001200054 NM_001200053 NM_006928 XM_006719568
HUGO HGNC:10880
OMIM 155550
CCDS CCDS8897 CCDS55834 CCDS55833
HPRD 01117
IMGT
EMBL AC025162 AC034102 AK092881 AK300150 BC001414 BT007202 CH471054 M32295 M77348 S73003 U01874 U19491 U20093 U31797 U31798 U31799 U31807 U31808
GenPept AAA18479 AAA35930 AAA60121 AAB00386 AAB19181 AAC60634 AAH01414 AAP35866 BAG52619 BAH13223 EAW96853
RNA Seq Atlas 6490