Gene: PMEL (premelanosome protein)  Homo sapiens
Symbol: PMEL
Name: premelanosome protein
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: D12S53E; gp100; ME20; ME20-M; ME20-M; ME20M; ME20M; Melanocyte protein mel 17; melanocyte protein mel 17; melanocyte protein PMEL; melanocyte protein Pmel 17; melanocytes lineage-specific antigen GP100; melanoma-associated ME20 antigen; melanosomal matrix protein17; OTTHUMP00000244022; OTTHUMP00000244023; OTTHUMP00000244024; OTTHUMP00000244025; OTTHUMP00000244026; OTTHUMP00000244028; P1; P1; P100; P100; Pmel 17; PMEL17; SI; SIL; SILV; silver (mouse homolog)-like; silver homolog; silver locus protein homolog; Silver, mouse, homolog of; silver, mouse, homolog of
Orthologs: Mus musculus : Pmel (premelanosome protein)  MGI
Rattus norvegicus : Pmel (premelanosome protein)
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_11256,181,777 - 56,194,385-NCBI
Human Genome Assembly HuRef1253,386,917 - 53,399,406-NCBI
Human Genome Assembly GRCh371256,347,889 - 56,360,496-NCBI
Human Genome Assembly Build 361254,634,156 - 54,646,093-NCBI
Human Cytogenetic Map12q13-q14 NCBI
Human Genome Assembly1254,634,156 - 54,646,093 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)

Annotation    (Toggle Detail/Summary View)

Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
  
More on PMEL
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 1316751
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2013-03-19
Status: ACTIVE



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