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    SLC30A10 solute carrier family 30 member 10 [ Homo sapiens (human) ]

    Gene ID: 55532, updated on 13-Aug-2017
    Official Symbol
    SLC30A10provided by HGNC
    Official Full Name
    solute carrier family 30 member 10provided by HGNC
    Primary source
    HGNC:HGNC:25355
    See related
    Ensembl:ENSG00000196660 MIM:611146; Vega:OTTHUMG00000037434
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZNT8; ZRC1; HMDPC; ZNT10; ZnT-10; HMNDYT1
    Summary
    This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]
    Orthologs
    Location:
    1q41
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (219910398..219959754, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (220087606..220101993, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger CCCH-type containing 11B Neighboring gene uncharacterized LOC105372926 Neighboring gene RNA, 5S ribosomal pseudogene 76 Neighboring gene uncharacterized LOC107985281 Neighboring gene glutamyl-prolyl-tRNA synthetase Neighboring gene 3'(2'), 5'-bisphosphate nucleotidase 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
    NHGRI GWA Catalog
    • Zinc homeostasis, organism-specific biosystem (from WikiPathways)
      Zinc homeostasis, organism-specific biosystemZinc is a transition metal and catalytic cofactor involved in many biological processes such as proliferation, development and differentiation, regulation of DNA synthesis, genomic stability, cell ac...

    Markers

    Homology

    Clone Names

    • DKFZp547M236

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    manganese ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    zinc transporter 10
    Names
    manganese transporter SLC30A10
    zinc transporter 8

    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.

    Genomic

    1. NG_032153.1 RefSeqGene

      Range
      5001..19388
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018713.2NP_061183.2  zinc transporter 10

      See identical proteins and their annotated locations for NP_061183.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is protein-coding.
      Source sequence(s)
      AK090806, AL359609, AY212919, BG564297
      Consensus CDS
      CCDS31026.1
      UniProtKB/Swiss-Prot
      Q6XR72
      UniProtKB/TrEMBL
      B3KR19
      Related
      ENSP00000355893.3, OTTHUMP00000216728, ENST00000366926.3, OTTHUMT00000357709
      Conserved Domains (2) summary
      COG1230
      Location:10383
      CzcD; Co/Zn/Cd efflux system component [Inorganic ion transport and metabolism]
      pfam01545
      Location:20307
      Cation_efflux; Cation efflux family

    RNA

    1. NR_046437.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK090806, AL359609, BC036078, CB999545

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      219910398..219959754 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711437.3XP_006711500.2  zinc transporter 10 isoform X1

      Conserved Domains (2) summary
      TIGR01297
      Location:20320
      CDF; cation diffusion facilitator family transporter
      pfam01545
      Location:20244
      Cation_efflux; Cation efflux family
    2. XM_017001684.1XP_016857173.1  zinc transporter 10 isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      221360934..221375280 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001004433.1: Suppressed sequence

      Description
      NM_001004433.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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