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

Gene ID: 11254, updated on 12-Oct-2019

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
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

Genomic context

See SLC6A14 in Genome Data Viewer
Location:
Xq23
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (116436606..116461458)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (115567747..115592625)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene angiotensin II receptor type 2 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 BioSystems

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
 
neurotransmitter:sodium symporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
amino acid transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
amino acid transport TAS
Traceable Author Statement
more info
 
neurotransmitter transport IEA
Inferred from Electronic Annotation
more info
 
response to toxic substance IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
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)

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
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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