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    SLC31A1 solute carrier family 31 member 1 [ Homo sapiens (human) ]

    Gene ID: 1317, updated on 7-Jan-2024

    Summary

    Official Symbol
    SLC31A1provided by HGNC
    Official Full Name
    solute carrier family 31 member 1provided by HGNC
    Primary source
    HGNC:HGNC:11016
    See related
    Ensembl:ENSG00000136868 MIM:603085; AllianceGenome:HGNC:11016
    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
    CTR1; NSCT; COPT1
    Summary
    The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in liver (RPKM 33.0), duodenum (RPKM 22.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC31A1 in Genome Data Viewer
    Location:
    9q32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (113221544..113264492)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (125420370..125463332)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (115983824..116026772)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 225 member A Neighboring gene Sharpr-MPRA regulatory region 7760 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:115900615-115900810 Neighboring gene Sharpr-MPRA regulatory region 5302 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:115920203-115920404 Neighboring gene solute carrier family 31 member 2 Neighboring gene FKBP prolyl isomerase family member 15 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:115949815-115951014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28835 Neighboring gene uncharacterized LOC107987119 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116036963-116037818 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106320 Neighboring gene cell division cycle 26 Neighboring gene pre-mRNA splicing tri-snRNP complex factor PRPF4

    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
    Neurodegeneration and seizures due to copper transport defect
    MedGen: C5830385 OMIM: 620306 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association study of serum albumin:globulin ratio in Korean populations.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC75487

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables copper ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables copper ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables copper ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables silver ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables silver ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables xenobiotic transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in copper ion import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in copper ion import ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in copper ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular copper ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in plasma membrane copper ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein complex oligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in silver ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in silver ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vascular endothelial growth factor receptor-2 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in xenobiotic transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in xenobiotic transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in early endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intercalated disc IEA
    Inferred from Electronic Annotation
    more info
     
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in recycling endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    high affinity copper uptake protein 1
    Names
    copper transport 1 homolog
    copper transporter 1
    solute carrier family 31 (copper transporter), member 1
    solute carrier family 31 (copper transporters), member 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001859.4NP_001850.1  high affinity copper uptake protein 1

      See identical proteins and their annotated locations for NP_001850.1

      Status: REVIEWED

      Source sequence(s)
      AL449305, AL831843, BC013611
      Consensus CDS
      CCDS6789.1
      UniProtKB/Swiss-Prot
      A8K8Z6, O15431, Q53GR5, Q5T1M4
      Related
      ENSP00000363329.4, ENST00000374212.5
      Conserved Domains (1) summary
      pfam04145
      Location:45175
      Ctr; Ctr copper transporter family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      113221544..113264492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      125420370..125463332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)