Sequence Detail

ID/Version

Q60696 Q9CZB2 (UniProt | EBI)

Last sequence update: 2022-10-12
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Melanocyte protein PMEL;AltName: Full=Melanocyte protein Pmel 17;AltName: Full=Premelanosome protein;AltName: Full=Silver locus protein;Contains: RecName: Full=M-alpha;Contains: RecName: Full=M-beta;Flags: Precursor;

Provider

SWISS-PROT

Sequence

Polypeptide 626 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Pmel	premelanosome protein	41	109	4	38

Sequence references in MGI

J:22779 Kwon BS, et al., Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17. Nucleic Acids Res. 1995 Jan 11;23(1):154-8
J:58687 Martinez-Esparza M, et al., The mouse silver locus encodes a single transcript truncated by the silver mutation. Mamm Genome. 1999 Dec;10(12):1168-71
J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:113433 Theos AC, et al., Dual loss of ER export and endocytic signals with altered melanosome morphology in the silver mutation of Pmel17. Mol Biol Cell. 2006 Aug;17(8):3598-612
J:177116 Hellstrom AR, et al., Inactivation of pmel alters melanosome shape but has only a subtle effect on visible pigmentation. PLoS Genet. 2011 Sep;7(9):e1002285