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    SLC6A19 solute carrier family 6 member 19 [ Homo sapiens (human) ]

    Gene ID: 340024, updated on 9-Dec-2024

    Summary

    Official Symbol
    SLC6A19provided by HGNC
    Official Full Name
    solute carrier family 6 member 19provided by HGNC
    Primary source
    HGNC:HGNC:27960
    See related
    Ensembl:ENSG00000174358 MIM:608893; AllianceGenome:HGNC:27960
    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
    HND; B0AT1
    Summary
    This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene may result in Hartnup disorder, an inherited disease with symptoms such as pellagra, cerebellar ataxia, and psychosis. The expression and function of B0AT1 (SLC6A19) in intestinal cells depends on the presence of the accessory protein angiotensin-converting enzyme 2 (ACE2) which, among other functions, acts as a chaperone for membrane trafficking of B0AT1. The ACE2 is also the cellular receptor for severe acute respiratory syndrome-coronavirus (SARS-CoV) and for SARS-CoV-2 that is causing the coronavirus 2019 (COVID-19) pandemic [provided by RefSeq, Jul 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
    Expression
    Biased expression in small intestine (RPKM 76.0), duodenum (RPKM 71.7) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See SLC6A19 in Genome Data Viewer
    Location:
    5p15.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (1201595..1225111)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (1108484..1132085)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1201710..1225226)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 12 member 7 Neighboring gene uncharacterized LOC107986396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1131579-1132112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1137285-1137817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1140609-1141452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1152429-1152954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1167671-1168192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1168193-1168712 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80773 Neighboring gene uncharacterized LOC124900189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1187033-1187726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1187727-1188419 Neighboring gene TERT regulating lncRNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1195313-1196120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1196121-1196928 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1204178-1204741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1225890-1226432 Neighboring gene solute carrier family 6 member 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1264322-1264939 Neighboring gene MNS16A minisatellite promoter Neighboring gene Sharpr-MPRA regulatory region 13256 Neighboring gene telomerase reverse transcriptase Neighboring gene TERT enhancer in intron 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1290609-1291360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1291361-1292111 Neighboring gene TERT 5' regulatory region

    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
    Neutral 1 amino acid transport defect
    MedGen: C0018609 OMIM: 234500 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ20680, FLJ34635

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amino acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables neutral L-amino acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables neutral L-amino acid transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables symporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in amino acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amino acid transport TAS
    Traceable Author Statement
    more info
     
    involved_in neutral amino acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in viral life cycle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in brush border membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in brush border membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    sodium-dependent neutral amino acid transporter B(0)AT1
    Names
    broad neutral amino acid transporter 1
    sodium-dependent amino acid transporter system B0
    solute carrier family 6 (neurotransmitter transporter), member 19
    solute carrier family 6 (neutral amino acid transporter), member 19
    system B(0) neutral amino acid transporter AT1
    system B0 neutral amino acid transporter

    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_008282.1 RefSeqGene

      Range
      5001..28517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001003841.3NP_001003841.1  sodium-dependent neutral amino acid transporter B(0)AT1

      See identical proteins and their annotated locations for NP_001003841.1

      Status: REVIEWED

      Source sequence(s)
      AC114291, AI015994, AK290811, AY596807
      Consensus CDS
      CCDS34130.1
      UniProtKB/Swiss-Prot
      A8K446, Q695T7
      Related
      ENSP00000305302.10, ENST00000304460.11
      Conserved Domains (1) summary
      cl00456
      Location:32612
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      1201595..1225111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      1108484..1132085
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352501.1XP_054208476.1  sodium-dependent neutral amino acid transporter B(0)AT1 isoform X1

      UniProtKB/Swiss-Prot
      A8K446, Q695T7