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

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Protein kinases as regulators of osmolyte accumulation under stress conditions: An overview.
Title: Protein kinases as regulators of osmolyte accumulation under stress conditions: An overview.
Significance of taurine transporter (TauT) in homeostasis and its layers of regulation (Review).
Title: Significance of taurine transporter (TauT) in homeostasis and its layers of regulation (Review).
TAUT(SLC6A6) p.A78E still localized in the plasma membrane but is predicted to impact structural stabilization.
Title: Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
Elevated SLC6A6 expression is associated with gastric cancer.
Title: Elevated SLC6A6 expression drives tumorigenesis and affects clinical outcomes in gastric cancer.
TauT gene expression is significantly upregulated in mononuclear leukocytes of type 1 diabetes patients and is related to HbA1c levels and inversely to plasma homocysteine.
Title: Taurine Transporter Gene Expression in Mononuclear Blood Cells of Type 1 Diabetes Patients.
CNDP1 and CARNS are expressed in glomeruli and tubular cells; TauT is expressed in renal epithelial cells; CDNP1 may have a role in diabetic neuropathy
Title: Intrinsic carnosine metabolism in the human kidney.
This is the first study to present information on the transcriptional regulation of taurine transporter gene and the localization of the taurine transporter protein in chondrocytic cells.
Title: Chondrocytic cells express the taurine transporter on their plasma membrane and regulate its expression under anisotonic conditions.
Neurotransmitter transporters including SLC6A6 and SLC6A13 mediate the uptake of 5-aminolevulinic acid (ALA) and can play roles in the enhancement of ALA-induced accumulation of protoporphyrin in cancerous cells.
Title: Neurotransmitter transporter family including SLC6A6 and SLC6A13 contributes to the 5-aminolevulinic acid (ALA)-induced accumulation of protoporphyrin IX and photodamage, through uptake of ALA by cancerous cells.
Immunocytochemistry and flow cytometry analyses revealed that these mAbs recognized the native form of the extracellular domain of SLC6A6 on the cell surface.
Title: Immunization method for multi-pass membrane proteins using highly metastatic cell lines.
Taurine transporter is a novel pathological marker for stressed motor neurons in amyotrophic lateral sclerosis.
Title: Expression of taurine transporter (TauT) is modulated by heat shock factor 1 (HSF1) in motor neurons of ALS.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31156 (e-PCR)
- UniSTS:38432

STS-M78677 (e-PCR)
- UniSTS:78884

D3S2754E (e-PCR)
- UniSTS:150352

G67701 (e-PCR)
- UniSTS:224143

G67700 (e-PCR)
- UniSTS:224144

D3S4548 (e-PCR)
- UniSTS:28603

D3S1325E (e-PCR)
- UniSTS:147436

D3S3892 (e-PCR)
- UniSTS:3580

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alanine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables amino acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables amino acid transmembrane transporter activity	TAS Traceable Author Statement more info
enables amino acid:sodium symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables gamma-aminobutyric acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables gamma-aminobutyric acid:sodium:chloride symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables gamma-aminobutyric acid:sodium:chloride symporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables taurine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables taurine transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables taurine transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables taurine:sodium symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables taurine:sodium symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables taurine:sodium symporter activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
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 transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in amino acid transport	TAS Traceable Author Statement more info
involved_in gamma-aminobutyric acid import	ISS Inferred from Sequence or Structural Similarity more info
involved_in import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of nitrogen compound transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of positive regulation of cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in taurine transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in taurine transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in taurine transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in taurine transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in taurine transmembrane transport	TAS Traceable Author Statement more info	PubMed
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in microvillus membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity 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	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of plasma membrane protein complex	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sodium- and chloride-dependent taurine transporter

Names: solute carrier family 6 (neurotransmitter transporter, taurine), member 6

NCBI Reference Sequences (RefSeq)

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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)

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
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
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

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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

14402576..14489349

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_047448763.1 → XP_047304719.1 sodium- and chloride-dependent taurine transporter isoform X4
XM_047448762.1 → XP_047304718.1 sodium- and chloride-dependent taurine transporter isoform X3

RNA

XR_940495.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

14405068..14491755

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054347620.1 → XP_054203595.1 sodium- and chloride-dependent taurine transporter isoform X4
XM_054347618.1 → XP_054203593.1 sodium- and chloride-dependent taurine transporter isoform X1
XM_054347619.1 → XP_054203594.1 sodium- and chloride-dependent taurine transporter isoform X3