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    SLC7A4 solute carrier family 7 member 4 [ Homo sapiens (human) ]

    Gene ID: 6545, updated on 27-Nov-2024

    Summary

    Official Symbol
    SLC7A4provided by HGNC
    Official Full Name
    solute carrier family 7 member 4provided by HGNC
    Primary source
    HGNC:HGNC:11062
    See related
    Ensembl:ENSG00000099960 MIM:603752; AllianceGenome:HGNC:11062
    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
    VH; CAT4; CAT-4; HCAT3
    Summary
    Predicted to enable amino acid transmembrane transporter activity. Predicted to be involved in amino acid transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 11.6), esophagus (RPKM 3.0) and 12 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC7A4 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21028718..21032561, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21437477..21441320, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21383007..21386850, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21353453-21354008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13506 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21357012-21357402 Neighboring gene THAP domain containing 7 Neighboring gene THAP7 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21363733-21363878 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:21364621-21365436 Neighboring gene tubulin alpha 3f pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18695 Neighboring gene purinergic receptor P2X 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21386396-21386906 Neighboring gene microRNA 649 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21395566-21395794 Neighboring gene purinergic receptor P2X 6 pseudogene

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The CDR1, FR2, and CDR3 regions of the VH3 family gene significantly contribute to its binding to HIV-1 gp120 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC129976, MGC129977

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amino acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables basic amino acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in amino acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in basic amino acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    cationic amino acid transporter 4
    Names
    Ig heavy chain variable region
    VH 3 family
    solute carrier family 7 (cationic amino acid transporter, y+ system), member 4
    solute carrier family 7 (orphan transporter), member 4

    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_004173.3NP_004164.2  cationic amino acid transporter 4

      See identical proteins and their annotated locations for NP_004164.2

      Status: VALIDATED

      Source sequence(s)
      AC002472, BC008814, BC062565
      Consensus CDS
      CCDS33608.1
      UniProtKB/Swiss-Prot
      O43246, Q0P5U2, Q3KNQ6, Q4VC45, Q6IBY8, Q96H88
      UniProtKB/TrEMBL
      A0A994J565
      Related
      ENSP00000372390.2, ENST00000382932.3
      Conserved Domains (2) summary
      TIGR00906
      Location:26592
      2A0303; cationic amino acid transport permease
      pfam13906
      Location:540590
      AA_permease_C; C-terminus of AA_permease

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      21028718..21032561 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441472.1XP_047297428.1  cationic amino acid transporter 4 isoform X1

      UniProtKB/Swiss-Prot
      O43246, Q0P5U2, Q3KNQ6, Q4VC45, Q6IBY8, Q96H88

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      21437477..21441320 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)