PMEL

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]

Description

Premelanosome protein

Tissue specificity

Group enriched (cervix, endometrium , skin)

Subcell location

Endoplasmic reticulum, Golgi apparatus

Predicted location

Intracellular, Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

12 (55954105 - 55973317)

Ensembl ID

ENSG00000185664  (ver. 103.38)

Orthologs

Mouse Pmel: ENSMUSG00000025359

UniProt

P40967

neXtProt

NX_P40967

Human splice variants
Mouse splice variants

Protein structure