Tauriinin ja beta-alaniinin kuljettaja SLC6A (3p25.1) , TAUT

https://www.ncbi.nlm.nih.gov/gene/6533
SLC6A  (3p25.1)

Official Symbol

SLC6A6provided by HGNC

Official Full Name

solute carrier family 6 member 6provided by HGNC

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

Preferred Names

sodium- and chloride-dependent taurine transporter

Names

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

Conserved Domains (1) summary

cd11510
Location:142 → 683

SLC6sbd_TauT; Na(+)- and Cl(-)-dependent taurine transporter; solute-binding domain TauT is a Na(+)- and Cl(-)-dependent, high-affinity, low-capacity transporter of taurine and beta-alanine. Human TauT is encoded by the SLC6A6 gene. TauT is expressed in brain, retina, liver, kidney, heart, spleen, and pancreas. It may play a part in the supply of taurine to the intestinal epithelium and in the between-meal-capture of taurine. It may also participate in re-absorbing taurine that has been deconjugated from bile acids in the distal lumen. Functional TauT protects kidney cells from nephrotoxicity caused by the chemotherapeutic agent cisplatin; cisplatin down-regulates TauT in a p53-dependent manner. In mice, TauT has been shown to be important for the maintenance of skeletal muscle function and total exercise capacity. TauT-/- mice develop additional clinically important diseases, some of which are characterized by apoptosis, including vision loss, olfactory dysfunction, and chronic liver disease. This subgroup belongs to the solute carrier 6 (SLC6) transporter family.

ORIGIN      
        1 mgdaescllr qqtrevrkkp linyrflraa anaeprgpqa qrtscakrec gaftqrvrer
       61 agrqppaggt rhsraergrr rshprsrtrt tallrssqtk ematkeklqc lkdfhkdilk
      121 pspgkspgtr pedeaegkpp qrekwsskid fvlsvaggfv glgnvwrfpy lcykngggaf
      181 lipyfiflfg sglpvfflei iigqytsegg itcwekicpl fsgigyasvv ivsllnvyyi
      241 vilawatyyl fqsfqkelpw ahcnhswntp hcmedtmrkn ksvwitisst nftspviefw
      301 ernvlslspg idhpgslkwd lalclllvwl vcffciwkgv rstgkvvyft atfpfamllv
      361 llvrgltlpg agagikfyly pditrledpq vwidagtqif fsyaiclgam tslgsynkyk
      421 ynsyrdcmll gclnsgtsfv sgfaifsilg fmaqeqgvdi advaesgpgl afiaypkavt
      481 mmplptfwsi lffimllllg ldsqfveveg qitslvdlyp sflrkgyrre ifiafvcsis
      541 yllgltmvte ggmyvfqlfd yyaasgvcll wvaffecfvi awiyggdnly dgiedmigyr
      601 pgpwmkyswa vitpvlcvgc fifslvkyvp ltynktyvyp nwaiglgwsl alssmlcvpl
      661 vivirlcqte gpflvrvkyl ltprepnrwa veregatpyn srtvmngalv kpthiivetm
      721 m
//

Related articles in PubMed

1. Taurine Transporter Gene Expression in Mononuclear Blood Cells of Type 1 Diabetes Patients. Napoli Z, et al. J Diabetes Res, 2016. PMID 26955642, Free PMC Article
2. Chondrocytic cells express the taurine transporter on their plasma membrane and regulate its expression under anisotonic conditions. Karjalainen HM, et al. Amino Acids, 2015 Mar. PMID 25501278
3. Immunization method for multi-pass membrane proteins using highly metastatic cell lines. Satofuka H, et al. Biochem Biophys Res Commun, 2014 Jul 18. PMID 24866236
4. Taurine transport in human placental trophoblast is important for regulation of cell differentiation and survival. Desforges M, et al. Cell Death Dis, 2013 Mar 21. PMID 23519128, Free PMC Article
5. Knockdown of TauT expression impairs human embryonic kidney 293 cell development. Han X, et al. Adv Exp Med Biol, 2013. PMID 23392892

See all (54) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

1. 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.
2. 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
3. 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.
4. 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.
5. Immunocytochemistry and flow cytometry analyses revealed that these mAbs recognized the native form of the extracellular domain of SLC6A6 on the cell surface.
6. Taurine transporter is a novel pathological marker for stressed motor neurons in amyotrophic lateral sclerosis.
7. Taurine transporter deficiency results in aberrant trophoblast turnover and fetal growth restriction.
8. Knockdown of TauT impairs kidney development, possibly through regulation of cell cycle-related genes.
9. Expression of TauT is differentially regulated by Vitamin D(3) and retinoic acid via formation of VDR and RXR complexes in the nuclei in a cell type-dependent manner.
10. Syncytiotrophoblast TauT activity is reduced in maternal obesity and pre-eclampsia compared to normal pregnancy.

  Katson vielä  yksityiskohtia "Features" tästä proteiinista: Siinä on jakso jossa on  näitöä prys- tyyppisiä ja myös  runsaasti w aminohappoa.
Natriumjonia  kiinnittää kohdat: 

(G157,V160,L499,D502..S503)

            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..721
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.1"
     Protein         1..721
                     /product="sodium- and chloride-dependent taurine
                     transporter isoform c"
                     /note="sodium- and chloride-dependent taurine transporter;
                     solute carrier family 6 (neurotransmitter transporter,
                     taurine), member 6"
                     /calculated_mol_wt=81208
     Region          142..683
                     /region_name="SLC6sbd_TauT"
                     /note="Na(+)- and Cl(-)-dependent taurine transporter;
                     solute-binding domain; cd11510"
                     /db_xref="CDD:271398"
     Site            order(157,160,499,502..503)
                     /site_type="other"
                     /note="Na binding site 2 [ion binding]"
                     /db_xref="CDD:271398"
     Site            order(158..159,161..164,239,401..402,407,409,503,506..507)
                     /site_type="other"
                     /note="putative substrate binding site 1 [chemical
                     binding]"
                     /db_xref="CDD:271398"
     Site            order(159,164,402,434)
                     /site_type="other"
                     /note="Na binding site 1 [ion binding]"
                     /db_xref="CDD:271398"
     Site            order(166..167,238,242,245,468,472)
                     /site_type="other"
                     /note="putative substrate binding site 2 [chemical
                     binding]"
                     /db_xref="CDD:271398"
     Site            264
                     /site_type="other"
                     /note="putative glycosylation site [posttranslational
                     modification]"
                     /db_xref="CDD:271398"
     Site            280
                     /site_type="other"
                     /note="putative glycosylation site [posttranslational
                     modification]"
                     /db_xref="CDD:271398"
     Site            291
                     /site_type="other"
                     /note="putative glycosylation site [posttranslational
                     modification]"
                     /db_xref="CDD:271398"
     Site            634
                     /site_type="other"
                     /note="putative glycosylation site [posttranslational
                     modification]"
                     /db_xref="CDD:271398"
     CDS             1..721
                     /gene="SLC6A6"
                     /gene_synonym="TAUT"
                     /coded_by="NM_001134367.3:19..2184"
                     /note="isoform c is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS77704.1"
                     /db_xref="GeneID:6533"
                     /db_xref="HGNC:HGNC:11052"
                     /db_xref="MIM:186854"