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    pmelb premelanosome protein b [ Danio rerio (zebrafish) ]

    Gene ID: 562810, updated on 2-Nov-2024

    Summary

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    Official Symbol
    pmelbprovided by ZNC
    Official Full Name
    premelanosome protein bprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-050912-2
    See related
    Ensembl:ENSDARG00000033760 AllianceGenome:ZFIN:ZDB-GENE-050912-2
    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
    silvb; silverb
    Summary
    Acts upstream of or within melanosome organization. Predicted to be located in membrane. Predicted to be active in melanosome and plasma membrane. Is expressed in optic vesicle; presumptive retinal pigmented epithelium; retina; and retinal pigmented epithelium. Orthologous to human PMEL (premelanosome protein). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    all
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    Genomic context

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    See pmelb in Genome Data Viewer
    Location:
    chromosome: 23
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 23 NC_007134.7 (35672544..35690336)
    105 previous assembly GRCz10 (GCF_000002035.5) 23 NC_007134.6 (35573728..35591533)

    Chromosome 23 - NC_007134.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 18 Neighboring gene cyclin T1 Neighboring gene tubulin, alpha 1c Neighboring gene tubulin, alpha 1a

    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. 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
    2. 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
    3. 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
    4. Characterization of a bystander effect induced by the endocrine-disrupting chemical 6-propyl-2-thiouracil in zebrafish embryos. Liu C, et al. Aquat Toxicol, 2012 Aug 15. PMID 22542736
    5. Otx but not Mitf transcription factors are required for zebrafish retinal pigment epithelium development. Lane BM, et al. PLoS One, 2012. PMID 23139843, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by ZFIN

    Process Evidence Code Pubs
    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 
    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
    premelanosome protein b
    Names
    melanosome matrix protein
    silver homolog b

    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_001033918.2 → NP_001029090.2  premelanosome protein b precursor

      See identical proteins and their annotated locations for NP_001029090.2

      Status: PROVISIONAL

      Source sequence(s)
      BC116462
      UniProtKB/TrEMBL
      Q1JQ71
      Related
      ENSDARP00000046267.5, ENSDART00000046268.7
      Conserved Domains (1) summary
      pfam00801
      Location:221 → 285
      PKD; PKD domain

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007134.7 Reference GRCz11 Primary Assembly

      Range
      35672544..35690336
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005162378.5 → XP_005162435.1  premelanosome protein b isoform X1

      UniProtKB/TrEMBL
      A0A8M2B993
      Conserved Domains (1) summary
      pfam00801
      Location:221 → 285
      PKD; PKD domain
    Nucleotide Protein
    Heading Accession and Version

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