PMEL premelanosome protein [Bos taurus (domestic cattle)] - Gene

Summary

Official Symbol: PMELprovided by VGNC
Official Full Name: premelanosome proteinprovided by VGNC
Primary source: VGNC:VGNC:33069
See related: BGD:BT10574; Ensembl:ENSBTAG00070012306
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Bos taurus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
Also known as: RPE1; SILV; PMEL17
Orthologs: all
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Genomic context

Location:: chromosome: 5

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_12	current	ARS-UCD2.0 (GCF_002263795.3)	5	NC_037332.1 (57344558..57353370)

Chromosome 5 - NC_037332.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_037332.1 Chromosome 5 Reference ARS-UCD2.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Indication of Premelanosome Protein (PMEL) Expression Outside of Pigmented Bovine Skin Suggests Functions Beyond Eumelanogenesis.
Title: Indication of Premelanosome Protein (PMEL) Expression Outside of Pigmented Bovine Skin Suggests Functions Beyond Eumelanogenesis.
Six solid colors occur in Highland cattle: black, dun, silver dun and red, yellow, and white. These six coat colors are explained by a non-epistatic interaction of the genotypes at the MC1R and PMEL genes.
Title: Interaction of MC1R and PMEL alleles on solid coat colors in Highland cattle.
the complex expression pattern of the bovine SILV gene in pigmented and non-pigmented tissues
Title: Multiple splice variants within the bovine silver homologue (SILV) gene affecting coat color in cattle indicate a function additional to fibril formation in melanophores.
no convincing recombination events were found between the SILV c.64A>G mutation and the Dc locus
Title: Genetic effects on coat colour in cattle: dilution of eumelanin and phaeomelanin pigments in an F2-Backcross Charolais x Holstein population.

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General gene information

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Markers

SILV (e-PCR)
- UniSTS:279097

MARC_12293-12294:1005666434:1 (e-PCR)
- UniSTS:267399

Gene Ontology Provided by RefSeq

Process	Evidence Code	Pubs
involved_in melanosome organization	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in melanosome	IEA Inferred from Electronic Annotation more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: melanocyte protein PMEL

Names: melanocyte protein Pmel 17; pre-melanosomal protein 17; retinal pigment epithelial-specific protein; silver homolog; silver locus protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001080215.2 → NP_001073684.2 melanocyte protein PMEL precursor

See identical proteins and their annotated locations for NP_001073684.2

Status: PROVISIONAL

Source sequence(s)

EF065525

UniProtKB/Swiss-Prot

A1YKV3, Q06154

UniProtKB/TrEMBL

A0AAA9THV0

Related

ENSBTAP00070016981.1, ENSBTAT00070027972.1

Conserved Domains (1) summary

cd00146
Location:236 → 295

PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...