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    SLC24A5 solute carrier family 24 member 5 [ Homo sapiens (human) ]

    Gene ID: 283652, updated on 12-Mar-2017
    Official Symbol
    SLC24A5provided by HGNC
    Official Full Name
    solute carrier family 24 member 5provided by HGNC
    Primary source
    HGNC:HGNC:20611
    See related
    Ensembl:ENSG00000188467 MIM:609802; Vega:OTTHUMG00000131494
    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
    JSX; OCA6; NCKX5; SHEP4
    Summary
    This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    15q21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (48120972..48142392)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (48413169..48434926)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370805 Neighboring gene uncharacterized LOC102724553 Neighboring gene uncharacterized LOC107984792 Neighboring gene uncharacterized LOC107984136 Neighboring gene myelin expression factor 2 Neighboring gene uncharacterized LOC105370807 Neighboring gene cortexin 2 Neighboring gene uncharacterized LOC107984756 Neighboring gene solute carrier family 12 member 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?

    Associated conditions

    Description Tests
    Skin/hair/eye pigmentation, variation in, 4
    MedGen: C2676042 OMIM: 113750 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genomewide association study of skin pigmentation in a South Asian population.
    NHGRI GWA Catalog
    Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
    NHGRI GWA Catalog

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium, potassium:sodium antiporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium, potassium:sodium antiporter activity TAS
    Traceable Author Statement
    more info
     
    potassium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sodium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    symporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ion transport TAS
    Traceable Author Statement
    more info
     
    negative regulation of melanin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    potassium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    sodium/potassium/calcium exchanger 5
    Names
    Na(+)/K(+)/Ca(2+)-exchange protein 5
    ion transporter JSX
    oculocutaneous albinism 6 (autosomal recessive)
    solute carrier family 24 (sodium/potassium/calcium exchanger), member 5

    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_011500.1 RefSeqGene

      Range
      5001..26421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_205850.2NP_995322.1  sodium/potassium/calcium exchanger 5 precursor

      See identical proteins and their annotated locations for NP_995322.1

      Status: REVIEWED

      Source sequence(s)
      AF348468, BC073944
      Consensus CDS
      CCDS10128.1
      UniProtKB/Swiss-Prot
      Q71RS6
      Related
      ENSP00000341550, OTTHUMP00000162219, ENST00000341459, OTTHUMT00000254340
      Conserved Domains (2) summary
      TIGR00367
      Location:77476
      TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein
      pfam01699
      Location:333484
      Na_Ca_ex; Sodium/calcium exchanger protein

    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_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      48120972..48142392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022080.1XP_016877569.1  sodium/potassium/calcium exchanger 5 isoform X1

    2. XM_017022079.1XP_016877568.1  sodium/potassium/calcium exchanger 5 isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      48531372..48552781
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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