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    SLC7A14 solute carrier family 7 member 14 [ Homo sapiens (human) ]

    Gene ID: 57709, updated on 28-Oct-2024

    Summary

    Official Symbol
    SLC7A14provided by HGNC
    Official Full Name
    solute carrier family 7 member 14provided by HGNC
    Primary source
    HGNC:HGNC:29326
    See related
    Ensembl:ENSG00000013293 MIM:615720; AllianceGenome:HGNC:29326
    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
    PPP1R142
    Summary
    This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]
    Expression
    Biased expression in brain (RPKM 21.6) and adrenal (RPKM 2.0) See more
    Orthologs
    NEW
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    Genomic context

    See SLC7A14 in Genome Data Viewer
    Location:
    3q26.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (170459548..170586075, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (173243852..173370405, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (170177336..170303864, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:170079595-170080095 Neighboring gene MPRA-validated peak4917 silencer Neighboring gene SKI like proto-oncogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:170136404-170137356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:170143143-170143644 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:170143645-170144144 Neighboring gene microRNA 6828 Neighboring gene claudin 11 Neighboring gene SLC7A14 antisense RNA 1 Neighboring gene keratin 8 pseudogene 13 Neighboring gene Sharpr-MPRA regulatory region 6075 Neighboring gene MPRA-validated peak4918 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20806 Neighboring gene NANOG hESC enhancer GRCh37_chr3:170395666-170396167 Neighboring gene ribosomal protein L28 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:170399438-170400156 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:170406280-170406852 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:170406853-170407425 Neighboring gene uncharacterized LOC124906302 Neighboring gene Sharpr-MPRA regulatory region 4779

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ37228, KIAA1613

    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 gamma-aminobutyric acid transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in amino acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amino acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in gamma-aminobutyric acid import ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    solute carrier family 7 member 14
    Names
    gamma-aminobutyric acid transporter SLC7A14
    probable cationic amino acid transporter
    protein phosphatase 1, regulatory subunit 142
    solute carrier family 7 (cationic amino acid transporter, y+ system), member 14
    solute carrier family 7 (orphan transporter), member 14

    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_034121.1 RefSeqGene

      Range
      5000..131527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020949.3NP_066000.2  solute carrier family 7 member 14

      See identical proteins and their annotated locations for NP_066000.2

      Status: REVIEWED

      Source sequence(s)
      AB046833, AC008041, AK122655, DA475001, N64525
      Consensus CDS
      CCDS33892.1
      UniProtKB/Swiss-Prot
      B3KV33, Q8TBB6, Q9HCF9
      Related
      ENSP00000231706.4, ENST00000231706.6
      Conserved Domains (2) summary
      TIGR00906
      Location:48677
      2A0303; cationic amino acid transport permease
      pfam13906
      Location:627677
      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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      170459548..170586075 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      173243852..173370405 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_175917.2: Suppressed sequence

      Description
      NM_175917.2: This RefSeq was permanently suppressed because it is primarily UTR sequence.