SLC6A6 - solute carrier family 6 member 6 Gene

Also Known as TAUT; HTRDC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6533

About SLC6A6

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:14,402,576-14,489,349 (from NCBI)

This gene has 12 transcripts (splice variants), 298 orthologues, 19 paralogues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 26.5), spleen (RPKM 20.3) and 23 other tissues.

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]

SLC6A6 Products (3)

mRNA	Protein	Name
NM_001134367.3	NP_001127839.2	sodium- and chloride-dependent taurine transporter isoform c
NM_001134368.4	NP_001127840.1	sodium- and chloride-dependent taurine transporter isoform b
NM_003043.6	NP_003034.2	sodium- and chloride-dependent taurine transporter isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables alanine transmembrane transporter activity	IDA IDA: Inferred from direct assay	19074966	GOA
enables amino acid transmembrane transporter activity	IDA IDA: Inferred from direct assay	24842606	GOA
enables amino acid:sodium symporter activity	IDA IDA: Inferred from direct assay	8010975	GOA
enables taurine transmembrane transporter activity	IDA IDA: Inferred from direct assay	19074966	GOA
enables taurine transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	23519128	GOA
enables taurine:sodium symporter activity	IDA IDA: Inferred from direct assay	8010975	GOA
enables taurine:sodium symporter activity	IMP IMP: Inferred from mutant phenotype	31345061	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in alanine transport	IDA IDA: Inferred from direct assay	19074966	GOA
involved in amino acid import across plasma membrane	IDA IDA: Inferred from direct assay	19074966	GOA
acts upstream of nitrogen compound transport	IDA IDA: Inferred from direct assay	24842606	GOA
acts upstream of positive regulation of cell differentiation	IMP IMP: Inferred from mutant phenotype	23519128	GOA
involved in taurine transmembrane transport	IDA IDA: Inferred from direct assay	19074966	GOA
involved in taurine transmembrane transport	IMP IMP: Inferred from mutant phenotype	23519128	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	31791063	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	31791063	GOA
located in microvillus membrane	IDA IDA: Inferred from direct assay	15166008	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	28112518	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC6A6 Protein Structure

SNF

0
100
200
300
400
500
620 a.a.

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

Related Diseases

Diseases	Alias
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	HTRDC
Retinal Degeneration	Degeneration Of Retina
Megacolon	Dilatation Of Colon
Cerebral Creatine Deficiency Syndrome 2	Guanidinoacetate Methyltransferase Deficiency Gamt Deficiency Creatine Deficiency Syndrome Due To Gamt Deficiency Deficiency Of Guanidinoacetate Methyltransferase CCDS2 Guanidinoacetate Methyltransferase Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 2 Language Development Disorders
Placental Choriocarcinoma	Choriocarcinoma Of The Placenta
Cerebral Creatine Deficiency Syndrome	Deficiency, Cerebral Creatine, Syndrome
Gestational Choriocarcinoma	Gestational Chorionepithelioma Molar Pregnancy With Choriocarcinoma
Iminoglycinuria	Iminoglycinuria, Digenic IG
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-179581	SLC6A19-IN-4	Inhibitor	99.55%	Unkown
HY-RS13317	SLC6A6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16229	Slc6a6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25565	Slc6a6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC6A6	RGD	RGD:61912
Macaca mulatta	SLC6A6	VGNC	VGNC:77622
Mus musculus	SLC6A6	MGD	MGI:98488
Felis catus	SLC6A6	VGNC	VGNC:65418
Bos taurus	SLC6A6	VGNC	VGNC:34922
Canis familiaris	SLC6A6	VGNC	VGNC:46467
Others	SLC6A6	NCBI