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SLC6A6 solute carrier family 6 member 6 [ Homo sapiens (human) ]

Gene ID: 6533, updated on 9-Jun-2020

Summary

Official Symbol
SLC6A6provided by HGNC
Official Full Name
solute carrier family 6 member 6provided by HGNC
Primary source
HGNC:HGNC:11052
See related
Ensembl:ENSG00000131389 MIM:186854
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
TAUT
Summary
This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Expression
Ubiquitous expression in ovary (RPKM 26.5), spleen (RPKM 20.3) and 23 other tissues See more
Orthologs

Genomic context

See SLC6A6 in Genome Data Viewer
Location:
3p25.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (14402576..14489349)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (14444076..14530857)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1267 Neighboring gene uncharacterized LOC105376959 Neighboring gene RNA, 5S ribosomal pseudogene 124 Neighboring gene glutamate receptor interacting protein 2 Neighboring gene RNA, U6 small nuclear 905, pseudogene Neighboring gene RHBDF1 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?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
NHGRI GWA Catalog
Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC6A6 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

Homology

Clone Names

  • MGC10619, MGC131729

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
 
gamma-aminobutyric acid transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
taurine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
taurine:sodium symporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
amino acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
amino acid transport TAS
Traceable Author Statement
more info
 
gamma-aminobutyric acid import ISS
Inferred from Sequence or Structural Similarity
more info
 
import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
taurine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
taurine transport IDA
Inferred from Direct Assay
more info
PubMed 
taurine transport TAS
Traceable Author Statement
more info
PubMed 
transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
plasma membrane protein complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
sodium- and chloride-dependent taurine transporter
Names
solute carrier family 6 (neurotransmitter transporter, taurine), member 6

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.

mRNA and Protein(s)

  1. NM_001134367.3NP_001127839.2  sodium- and chloride-dependent taurine transporter isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' region and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (c) has a longer N-terminus than isoform a.
    Source sequence(s)
    AB209172, AC090941, AK303649, BC137129, CA448606
    Consensus CDS
    CCDS77704.1
    UniProtKB/Swiss-Prot
    P31641
    UniProtKB/TrEMBL
    A0A087WY96, B4E140, Q59GD7
    Related
    ENSP00000481625.1, ENST00000613060.4
    Conserved Domains (1) summary
    cd11510
    Location:142683
    SLC6sbd_TauT; Na(+)- and Cl(-)-dependent taurine transporter; solute-binding domain
  2. NM_001134368.4NP_001127840.1  sodium- and chloride-dependent taurine transporter isoform b

    See identical proteins and their annotated locations for NP_001127840.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks multiple 3' coding exons and its transcription extends past a splice site used in variant 1, resulting in a distinct 3' UTR. The encoded isoform (b) has a shorter C-terminus, compared to isoform a.
    Source sequence(s)
    AK303649, BC111489
    Consensus CDS
    CCDS46765.1
    UniProtKB/Swiss-Prot
    P31641
    UniProtKB/TrEMBL
    B4E140
    Related
    ENSP00000482560.1, ENST00000621751.4
    Conserved Domains (1) summary
    cl00456
    Location:41200
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  3. NM_003043.5NP_003034.2  sodium- and chloride-dependent taurine transporter isoform a

    See identical proteins and their annotated locations for NP_003034.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
    Source sequence(s)
    AB209172, AC090941, AK303649, BM149397, CA448606, U09220
    Consensus CDS
    CCDS33705.1
    UniProtKB/Swiss-Prot
    P31641
    UniProtKB/TrEMBL
    B4E140, Q59GD7
    Related
    ENSP00000480890.1, ENST00000622186.4
    Conserved Domains (1) summary
    cd11510
    Location:41582
    SLC6sbd_TauT; Na(+)- and Cl(-)-dependent taurine transporter; solute-binding domain

RNA

  1. NR_103507.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the translational start codon used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB209172, AC090941, AK303649, CD366732
    Related
    ENST00000618278.4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    14402576..14489349
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534031.2XP_011532333.1  sodium- and chloride-dependent taurine transporter isoform X3

    Conserved Domains (1) summary
    cl00456
    Location:1411
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  2. XM_011534030.2XP_011532332.1  sodium- and chloride-dependent taurine transporter isoform X2

    See identical proteins and their annotated locations for XP_011532332.1

    UniProtKB/Swiss-Prot
    P31641
    Conserved Domains (1) summary
    cd11510
    Location:41582
    SLC6sbd_TauT; Na(+)- and Cl(-)-dependent taurine transporter; solute-binding domain
  3. XM_006713307.2XP_006713370.1  sodium- and chloride-dependent taurine transporter isoform X1

    Conserved Domains (1) summary
    cd11510
    Location:70611
    SLC6sbd_TauT; Na(+)- and Cl(-)-dependent taurine transporter; solute-binding domain

RNA

  1. XR_427286.2 RNA Sequence

  2. XR_940495.3 RNA Sequence

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