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    SLC3A1 solute carrier family 3 member 1 [ Homo sapiens (human) ]

    Gene ID: 6519, updated on 6-Sep-2021

    Summary

    Official Symbol
    SLC3A1provided by HGNC
    Official Full Name
    solute carrier family 3 member 1provided by HGNC
    Primary source
    HGNC:HGNC:11025
    See related
    Ensembl:ENSG00000138079 MIM:104614
    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
    D2H; ATR1; NBAT; RBAT; CSNU1
    Summary
    This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in kidney (RPKM 175.5), small intestine (RPKM 50.6) and 6 other tissues See more
    Orthologs
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    Genomic context

    See SLC3A1 in Genome Data Viewer
    Location:
    2p21
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (44275464..44321494)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44502619..44548633)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723904 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1B Neighboring gene ribosomal protein L12 pseudogene 19 Neighboring gene prolyl endopeptidase like Neighboring gene calmodulin-lysine N-methyltransferase Neighboring gene uncharacterized LOC107985878 Neighboring gene VISTA enhancer hs541

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ34681

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-cystine transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables amino acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables basic amino acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in L-cystine transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in L-glutamate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amino acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in aspartate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in basic amino acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in basic amino acid transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in brush border membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in integral component of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in vacuolar membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    neutral and basic amino acid transport protein rBAT
    Names
    B(0,+)-type amino acid transport protein
    SLC3A1 variant B
    SLC3A1 variant C
    SLC3A1 variant D
    SLC3A1 variant E
    SLC3A1 variant F
    SLC3A1 variant G
    amino acid transporter 1
    solute carrier family 3 (amino acid transporter heavy chain), member 1
    solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1
    solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), 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.

    Genomic

    1. NG_008233.1 RefSeqGene

      Range
      5023..51037
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000341.4NP_000332.2  neutral and basic amino acid transport protein rBAT

      See identical proteins and their annotated locations for NP_000332.2

      Status: REVIEWED

      Source sequence(s)
      AC013717, AK223146, BC093626
      Consensus CDS
      CCDS1819.1
      UniProtKB/Swiss-Prot
      Q07837
      UniProtKB/TrEMBL
      A0A0S2Z4E1
      Related
      ENSP00000260649.6, ENST00000260649.11
      Conserved Domains (1) summary
      cd11359
      Location:116569
      AmyAc_SLC3A1; Alpha amylase catalytic domain found in Solute Carrier family 3 member 1 proteins

    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_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      44275464..44321494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533047.3XP_011531349.1  neutral and basic amino acid transport protein rBAT isoform X1

      UniProtKB/TrEMBL
      B8ZZK1
      Related
      ENSP00000387308.1, ENST00000409387.5
      Conserved Domains (3) summary
      cd11359
      Location:116539
      AmyAc_SLC3A1; Alpha amylase catalytic domain found in Solute Carrier family 3 member 1 proteins
      pfam00128
      Location:140488
      Alpha-amylase; Alpha amylase, catalytic domain
      pfam13900
      Location:543564
      GVQW; Putative domain of unknown function
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