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    SLC13A1 solute carrier family 13 (sodium/sulfate symporters), member 1 [ Homo sapiens (human) ]

    Gene ID: 6561, updated on 26-Feb-2013
    Official Symbol
    SLC13A1provided by HGNC
    Official Full Name
    solute carrier family 13 (sodium/sulfate symporters), member 1provided by HGNC
    Primary source
    HGNC:10916
    See related
    Ensembl:ENSG00000081800; HPRD:08394; MIM:606193; Vega:OTTHUMG00000157087
    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
    NAS1; NaSi-1
    Location :
    7q31.32
    Sequence :
    Chromosome: 7; NC_000007.13 (122753588..122840025, complement)
    See SLC13A1 in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene Ca++-dependent secretion activator 2 Neighboring gene v-rel reticuloendotheliosis viral oncogene homolog A (avian) pseudogene Neighboring gene taste receptor, type 2, member 16 Neighboring gene lysophospholipase I pseudogene 1 Neighboring gene IQ motif and ubiquitin domain containing

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Association of genetic polymorphisms with hepatotoxicity in patients with childhood acute lymphoblastic leukemia or lymphoma. Horinouchi M, et al. Pediatr Hematol Oncol, 2010 Aug. PMID 20670164.
    2. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. Maestrini E, et al. Mol Psychiatry, 2010 Sep. PMID 19401682.
    3. Molecular properties of the SLC13 family of dicarboxylate and sulfate transporters. Pajor AM. Pflugers Arch, 2006 Feb. PMID 16211368.
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039.
    5. Mutagenesis of the N-glycosylation site of hNaSi-1 reduces transport activity. Li H, et al. Am J Physiol Cell Physiol, 2003 Nov. PMID 12867358.

    See all (10) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Association of genetic polymorphisms with hepatotoxicity in patients with childhood acute lymphoblastic leukemia or lymphoma.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.
    3. Serines 260 and 288 are involved in sulfate transport by hNaSi-1.
      Title: Serines 260 and 288 are involved in sulfate transport by hNaSi-1.
    4. Amino acid residue Asn591, located in the carboxyl (COOH) terminus of NaSi-1, is used as the glycosylation site and is critical for transport activity in NaSi-1.
      Title: Mutagenesis of the N-glycosylation site of hNaSi-1 reduces transport activity.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    sodium:sulfate symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    sulfate transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    Preferred Names
    solute carrier family 13 member 1
    Names
    solute carrier family 13 member 1
    hNaSi-1
    Na(+)/sulfate cotransporter
    renal sodium/sulfate cotransporter
    solute carrier family 13 (sodium/sulphate symporters), member 1

    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_022444.3 → NP_071889.2  solute carrier family 13 member 1

      Status: VALIDATED

      Source sequence(s)
      AF260824, AI209074, AI469201, AK026413
      Consensus CDS
      CCDS5786.1
      UniProtKB/TrEMBL
      A4D0X1
      UniProtKB/Swiss-Prot
      Q9BZW2
      Related
      ENSP00000194130, OTTHUMP00000211446, ENST00000194130, OTTHUMT00000347404
      Conserved Domains (2) summary
      COG0471
      Location:333 – 577
      Blast Score: 282
      CitT; Di- and tricarboxylate transporters [Inorganic ion transport and metabolism]
      cl15356
      Location:279 – 577
      Blast Score: 303
      ArsB_NhaD_permease; Anion permease ArsB/NhaD. These permeases have been shown to translocate sodium, arsenate, antimonite, sulfate and organic anions across biological membranes in all three kingdoms of life. A typical anion permease contains 8-13 transmembrane helices ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p10 Primary Assembly

      Range
      122753588..122840025, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      117116540..117203253, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      122142198..122228657, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018918.1 Alternate CHM1_1.0

      Range
      126102207..126188680, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic AACC02000001.1 (5257801..5344260) None
    genomic ABBA01057738.1 (10422..80247) None
    genomic ABBA01057739.1 None
    genomic AC073054.2 AAS01997.1
    genomic AC091319.5 AAS01993.1
    genomic AMYH01017902.1 (6321..92794) None
    genomic CH236947.1 EAL24337.1
    genomic CH471070.1 EAW83582.1
    mRNA AF260824.1 AAG60583.1
    mRNA AI209074.1 None
    mRNA AI469201.1 None
    mRNA AK026413.1 BAB15477.1
    mRNA AK314537.1 BAG37127.1
    mRNA BC111775.1 AAI11776.1
    other-genetic BC140317.1 AAI40318.1
    other-genetic BC148686.1 AAI48687.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BZW2.1 GenPept UniProtKB/Swiss-Prot:Q9BZW2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
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      • BioProjects
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      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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