U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 6533, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:11052
    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; HTRDC
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC6A6 in Genome Data Viewer
    Location:
    3p25.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (14402576..14489349)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (14405068..14491755)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (14444076..14530857)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14394065-14394622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14395183-14395740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14395741-14396298 Neighboring gene long intergenic non-protein coding RNA 1267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14408879-14409397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14417978-14418496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14418497-14419013 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14424454-14424979 Neighboring gene uncharacterized LOC105376959 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14435811-14436550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19508 Neighboring gene RNA, 5S ribosomal pseudogene 124 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:14447712-14447882 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:14451820-14453019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14462886-14463709 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14463710-14464532 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:14469801-14469955 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14473371-14474282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14476107-14477018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14477019-14477930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14480905-14481405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14492974-14493781 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14500879-14501379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14501865-14502386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14502387-14502908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14502909-14503430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14513531-14514422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14537432-14537994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14539103-14539603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14546947-14547448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14547449-14547948 Neighboring gene Sharpr-MPRA regulatory region 227/3570 Neighboring gene glutamate receptor interacting protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14555415-14555916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14559661-14560465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14562934-14563775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14563776-14564616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14566631-14567132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14567133-14567632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14573046-14573836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14573837-14574627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14577662-14578621 Neighboring gene RNA, U6 small nuclear 905, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14584584-14585084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14589426-14589926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14605328-14605895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14615395-14615896 Neighboring gene RHBDF1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (19 hits/1287 screens)

    Associated conditions

    Description Tests
    Hypotaurinemic retinal degeneration and cardiomyopathy
    MedGen: C5542181 OMIM: 145350 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    EBI GWAS 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.
    EBI GWAS 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

    General gene information

    Clone Names

    • MGC10619, MGC131729

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in alanine transport PubMed 
    involved_in amino acid import across plasma membrane PubMed 
    involved_in amino acid transport  
    involved_in amino acid transport  
    involved_in gamma-aminobutyric acid import  
    involved_in import across plasma membrane  
    involved_in modulation of chemical synaptic transmission  
    involved_in neurotransmitter transport  
    acts_upstream_of nitrogen compound transport PubMed 
    acts_upstream_of positive regulation of cell differentiation PubMed 
    involved_in sodium ion transmembrane transport  
    involved_in taurine transmembrane transport  
    involved_in taurine transmembrane transport PubMed 
    involved_in taurine transmembrane transport PubMed 
    involved_in taurine transmembrane transport  
    involved_in taurine transmembrane transport PubMed 
    involved_in transport across blood-brain barrier PubMed 
    Component Evidence Code Pubs
    located_in GABA-ergic synapse  
    located_in apical plasma membrane PubMed 
    located_in basolateral plasma membrane PubMed 
    is_active_in cell projection  
    located_in dendrite  
    located_in membrane PubMed 
    located_in microvillus membrane PubMed 
    located_in neuronal cell body  
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in plasma membrane  
    part_of plasma membrane protein complex  
    located_in postsynaptic membrane  

    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)

    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_001134367.3 → NP_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/TrEMBL
      A0A087WY96
      Related
      ENSP00000481625.1, ENST00000613060.4
      Conserved Domains (1) summary
      cd11510
      Location:142 → 683
      SLC6sbd_TauT; Na(+)- and Cl(-)-dependent taurine transporter; solute-binding domain
    2. NM_001134368.4 → NP_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:41 → 200
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
    3. NM_003043.6 → NP_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
      B2RNU7, P31641, Q9BRI2, Q9BXB0
      Related
      ENSP00000480890.1, ENST00000622186.5
      Conserved Domains (1) summary
      cd11510
      Location:41 → 582
      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: 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
      14402576..14489349
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534030.2 → XP_011532332.1  sodium- and chloride-dependent taurine transporter isoform X2

      See identical proteins and their annotated locations for XP_011532332.1

      UniProtKB/Swiss-Prot
      B2RNU7, P31641, Q9BRI2, Q9BXB0
      Conserved Domains (1) summary
      cd11510
      Location:41 → 582
      SLC6sbd_TauT; Na(+)- and Cl(-)-dependent taurine transporter; solute-binding domain
    2. XM_006713307.3 → XP_006713370.1  sodium- and chloride-dependent taurine transporter isoform X1

      Conserved Domains (1) summary
      cd11510
      Location:70 → 611
      SLC6sbd_TauT; Na(+)- and Cl(-)-dependent taurine transporter; solute-binding domain
    3. XM_047448763.1 → XP_047304719.1  sodium- and chloride-dependent taurine transporter isoform X4

      UniProtKB/TrEMBL
      Q59GD7
    4. XM_047448762.1 → XP_047304718.1  sodium- and chloride-dependent taurine transporter isoform X3

    RNA

    1. XR_940495.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      14405068..14491755
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347620.1 → XP_054203595.1  sodium- and chloride-dependent taurine transporter isoform X4

      UniProtKB/TrEMBL
      Q59GD7
    2. XM_054347618.1 → XP_054203593.1  sodium- and chloride-dependent taurine transporter isoform X1

    3. XM_054347619.1 → XP_054203594.1  sodium- and chloride-dependent taurine transporter isoform X3

    RNA

    1. XR_008486778.1 RNA Sequence

    External link. Please review our privacy policy.