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

Gene ID: 55532, updated on 24-Jun-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 pseudogene 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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