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pmela premelanosome protein a [ Danio rerio (zebrafish) ]

Gene ID: 321239, updated on 11-Apr-2024

Summary

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Official Symbol
pmelaprovided by ZNC
Official Full Name
premelanosome protein aprovided by ZNC
Primary source
ZFIN:ZDB-GENE-030131-9818
See related
Ensembl:ENSDARG00000091298 AllianceGenome:ZFIN:ZDB-GENE-030131-9818
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
fdv; cb397; silva; pmel17; pmel1a; sb:cb397; wu:fc11g11; wu:fj24g11; zgc:136622
Summary
Predicted to enable ATP binding activity and metal ion binding activity. Acts upstream of or within several processes, including amyloid fibril formation; melanocyte differentiation; and melanosome organization. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in melanosome. Predicted to be integral component of plasma membrane. Is expressed in several structures, including eye; immature eye; neural crest; notochord; and pigment cell. Orthologous to human PMEL (premelanosome protein). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
human mouse all
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Genomic context

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Location:
chromosome: 11
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCz11 (GCF_000002035.6) 11 NC_007122.7 (3254518..3271603)
105 previous assembly GRCz10 (GCF_000002035.5) 11 NC_007122.6 (3186437..3203441)

Chromosome 11 - NC_007122.7Genomic Context describing neighboring genes Neighboring gene copine Vb Neighboring gene microRNA 724 Neighboring gene timeless circadian clock Neighboring gene matrix metallopeptidase 19 Neighboring gene cyclin dependent kinase 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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Related articles in PubMed

  1. Repeat domains of melanosome matrix protein Pmel17 orthologs form amyloid fibrils at the acidic melanosomal pH. McGlinchey RP, et al. J Biol Chem, 2011 Mar 11. PMID 21148556, Free PMC Article
  2. A mutation in the silver gene leads to defects in melanosome biogenesis and alterations in the visual system in the zebrafish mutant fading vision. Schonthaler HB, et al. Dev Biol, 2005 Aug 15. PMID 16024012
  3. Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma. Lahola-Chomiak AA, et al. Hum Mol Genet, 2019 Apr 15. PMID 30561643, Free PMC Article
  4. Central role of autophagic UVRAG in melanogenesis and the suntan response. Yang Y, et al. Proc Natl Acad Sci U S A, 2018 Aug 14. PMID 30061422, Free PMC Article
  5. Regulation of melanosome number, shape and movement in the zebrafish retinal pigment epithelium by OA1 and PMEL. Burgoyne T, et al. J Cell Sci, 2015 Apr 1. PMID 25690007, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. melanosome number, shape and movement in the zebrafish retinal pigment epithelium by OA1 and PMEL.
    Title: Regulation of melanosome number, shape and movement in the zebrafish retinal pigment epithelium by OA1 and PMEL.
  2. A mutation in silva leads to defects in melansome biogenesis and alterations in the visual system in the mutant fading vision.
    Title: A mutation in the silver gene leads to defects in melanosome biogenesis and alterations in the visual system in the zebrafish mutant fading vision.
Submit: New GeneRIF Correction

Pathways from PubChem

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General gene information

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Markers

Homology

Clone Names

  • MGC136622, MGC158124

Gene Ontology Provided by ZFIN

Process Evidence Code Pubs
acts_upstream_of_or_within amyloid fibril formation IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within developmental pigmentation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within eye pigmentation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within melanocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in melanosome organization IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within melanosome organization IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within melanosome organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in melanosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
melanocyte protein PMEL; premelanosome protein a
Names
fading vision
melanosomal matrix protein
silver homolog a

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)

  1. NM_001045330.1 → NP_001038795.1  premelanosome protein a precursor

    See identical proteins and their annotated locations for NP_001038795.1

    Status: PROVISIONAL

    Source sequence(s)
    BC117628
    UniProtKB/TrEMBL
    Q1ECY0
    Related
    ENSDARP00000107876.1, ENSDART00000123568.4
    Conserved Domains (1) summary
    smart00089
    Location:228 → 288
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007122.7 Reference GRCz11 Primary Assembly

    Range
    3254518..3271603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_021479549.1 → XP_021335224.1  melanocyte protein PMEL isoform X1

    UniProtKB/TrEMBL
    A0A8M9QCX8
    Conserved Domains (2) summary
    smart00089
    Location:228 → 288
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    cl26557
    Location:320 → 468
    RNase_E_G; Ribonuclease E/G family

  2. XM_021479550.1 → XP_021335225.1  melanocyte protein PMEL isoform X2

    UniProtKB/TrEMBL
    A0A8M9QLH3
    Conserved Domains (2) summary
    smart00089
    Location:228 → 288
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    cl26557
    Location:320 → 521
    RNase_E_G; Ribonuclease E/G family
Nucleotide Protein
Heading Accession and Version

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