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    SLC6A14 solute carrier family 6 member 14 [ Homo sapiens (human) ]

    Gene ID: 11254, updated on 27-Nov-2024

    Summary

    Official Symbol
    SLC6A14provided by HGNC
    Official Full Name
    solute carrier family 6 member 14provided by HGNC
    Primary source
    HGNC:HGNC:11047
    See related
    Ensembl:ENSG00000268104 MIM:300444; AllianceGenome:HGNC:11047
    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
    BMIQ11
    Summary
    This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010]
    Expression
    Biased expression in lung (RPKM 8.9), salivary gland (RPKM 4.7) and 7 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SLC6A14 in Genome Data Viewer
    Location:
    Xq23
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (116436606..116461458)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (114846229..114871074)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (115567774..115592625)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene angiotensin II receptor type 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:115376237-115376764 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:115403048-115404247 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:115462947-115463872 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:115465875-115466567 Neighboring gene NANOG hESC enhancer GRCh37_chrX:115467427-115467937 Neighboring gene NANOG hESC enhancer GRCh37_chrX:115506523-115507090 Neighboring gene RNA, U6 small nuclear 154, pseudogene Neighboring gene cancer/testis antigen 83 Neighboring gene SLC6A14 pseudogene 1

    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in (R)-carnitine transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in (R)-carnitine transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in (R)-carnitine transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in alanine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in amino acid import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in amino acid transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in amino acid transport TAS
    Traceable Author Statement
    more info
     
    involved_in aromatic amino acid transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in beta-alanine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in beta-alanine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in branched-chain amino acid transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chloride transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycine import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to toxic substance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    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
     
    located_in vesicle HDA PubMed 

    General protein information

    Preferred Names
    sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)
    Names
    amino acid transporter ATB0+
    amino acid transporter B0+
    solute carrier family 6 (amino acid transporter), member 14
    solute carrier family 6 (neurotransmitter 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_021305.2 RefSeqGene

      Range
      5020..29872
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007231.5NP_009162.1  sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)

      See identical proteins and their annotated locations for NP_009162.1

      Status: REVIEWED

      Source sequence(s)
      AC241580, AF151978, AK313390, BC093710, BU686768, DB207722
      Consensus CDS
      CCDS14570.1
      UniProtKB/Swiss-Prot
      Q5H942, Q9UN76
      UniProtKB/TrEMBL
      B2R8J1
      Related
      ENSP00000470801.1, ENST00000598581.3
      Conserved Domains (1) summary
      cd11501
      Location:36641
      SLC6sbd_ATB0; Na(+)- and Cl(-)-dependent beta-alanine transporter ATB0+; 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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      116436606..116461458
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      114846229..114871074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)