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

Gene ID: 55532, updated on 9-Aug-2021

Summary

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
Gene type
protein coding
RefSeq status
VALIDATED
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]
Expression
Biased expression in duodenum (RPKM 12.8), liver (RPKM 7.9) and 4 other tissues See more
Orthologs
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Genomic context

See SLC30A10 in Genome Data Viewer
Location:
1q41
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (219910395..219959098, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (220083787..220132440, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 297 Neighboring gene uncharacterized LOC105372926 Neighboring gene RNA, 5S ribosomal pseudogene 76 Neighboring gene uncharacterized LOC107985281 Neighboring gene glutamyl-prolyl-tRNA synthetase 1 Neighboring gene 3'(2'), 5'-bisphosphate nucleotidase 1

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hypermanganesemia with dystonia, polycythemia, and cirrhosis Compare labs
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp547M236

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables manganese ion transmembrane transporter activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to angiotensin IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular zinc ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in detoxification of zinc ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in epidermal growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in manganese ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in manganese ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in manganese ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cellular senescence IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of reactive oxygen species biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cellular response to manganese ion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of zinc ion transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in zinc ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in recycling endosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
zinc transporter 10
Names
manganese transporter SLC30A10
zinc transporter 8

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.

Genomic

  1. NG_032153.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001376929.1NP_001363858.1  zinc transporter 10 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC093562, AC103590
    Conserved Domains (1) summary
    COG1230
    Location:22320
    CzcD; Co/Zn/Cd efflux system component [Inorganic ion transport and metabolism]
  2. NM_018713.3NP_061183.2  zinc transporter 10 isoform 1

    See identical proteins and their annotated locations for NP_061183.2

    Status: VALIDATED

    Source sequence(s)
    AC093562
    Consensus CDS
    CCDS31026.1
    UniProtKB/Swiss-Prot
    Q6XR72
    UniProtKB/TrEMBL
    B3KR19
    Related
    ENSP00000355893.4, ENST00000366926.4
    Conserved Domains (1) summary
    COG1230
    Location:10383
    CzcD; Co/Zn/Cd efflux system component [Inorganic ion transport and metabolism]

RNA

  1. NR_046437.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC093562
  2. NR_165031.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC093562

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    219910395..219959098 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001684.2XP_016857173.1  zinc transporter 10 isoform X2

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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