ID:S6A13_HUMAN DESCRIPTION: RecName: Full=Sodium- and chloride-dependent GABA transporter 2; Short=GAT-2; AltName: Full=Solute carrier family 6 member 13; FUNCTION: Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=3.7 uM for GABA; KM=20.2 uM for beta-alanine; SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed in brain, kidney, lung, liver and testis. SIMILARITY: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A13 subfamily. SEQUENCE CAUTION: Sequence=AAF64247.1; Type=Frameshift; Positions=542;
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SLC6A13 CDC HuGE Published Literature: SLC6A13 Positive Disease Associations: Creatinine Related Studies:
Creatinine Anna Kottgen et al. Nature genetics 2010, New loci associated with kidney function and chronic kidney disease., Nature genetics.
[PubMed 20383146]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00209 - Sodium:neurotransmitter symporter family
ModBase Predicted Comparative 3D Structure on Q9NSD5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK296127 - Homo sapiens cDNA FLJ59549 complete cds, highly similar to Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13, mRNA. AK296209 - Homo sapiens cDNA FLJ55695 complete cds, highly similar to Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13, mRNA. BC022392 - Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13, mRNA (cDNA clone MGC:24098 IMAGE:4612245), complete cds. JD408432 - Sequence 389456 from Patent EP1572962. JD164392 - Sequence 145416 from Patent EP1572962. JD218493 - Sequence 199517 from Patent EP1572962. JD188736 - Sequence 169760 from Patent EP1572962. JD081224 - Sequence 62248 from Patent EP1572962. U76343 - Homo sapiens GABA transport protein mRNA, complete cds. JD252189 - Sequence 233213 from Patent EP1572962. JD415428 - Sequence 396452 from Patent EP1572962. JD397369 - Sequence 378393 from Patent EP1572962. JD460145 - Sequence 441169 from Patent EP1572962. JD273958 - Sequence 254982 from Patent EP1572962. JD519681 - Sequence 500705 from Patent EP1572962. JD195152 - Sequence 176176 from Patent EP1572962. JD089413 - Sequence 70437 from Patent EP1572962. JD475957 - Sequence 456981 from Patent EP1572962. DQ892025 - Synthetic construct clone IMAGE:100004655; FLH182439.01X; RZPDo839G03138D solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13) gene, encodes complete protein. AK313511 - Homo sapiens cDNA, FLJ94069, Homo sapiens solute carrier family 6 (neurotransmitter transporter,GABA), member 13 (SLC6A13), mRNA. DQ895217 - Synthetic construct Homo sapiens clone IMAGE:100009677; FLH182435.01L; RZPDo839G03137D solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13) gene, encodes complete protein. AK295904 - Homo sapiens cDNA FLJ59902 complete cds, highly similar to Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13, mRNA. CQ873768 - Sequence 187 from Patent WO2004076622. DD413605 - Regulation of Mammalian Cells. CU692600 - Synthetic construct Homo sapiens gateway clone IMAGE:100022260 5' read SLC6A13 mRNA. BC020867 - Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13, mRNA (cDNA clone IMAGE:4594185), complete cds. AF462445 - Homo sapiens hypothetical protein mRNA, complete cds. KJ905924 - Synthetic construct Homo sapiens clone ccsbBroadEn_15594 SLC6A13 gene, encodes complete protein. JD058674 - Sequence 39698 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9NSD5 (Reactome details) participates in the following event(s):
R-HSA-444007 GAT1-3 mediate Na+/Cl- dependent GABA transport R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters R-HSA-888593 Reuptake of GABA R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds R-HSA-425428 Amine compound SLC transporters R-HSA-888590 GABA synthesis, release, reuptake and degradation R-HSA-425407 SLC-mediated transmembrane transport R-HSA-112310 Neurotransmitter release cycle R-HSA-382551 Transport of small molecules R-HSA-112315 Transmission across Chemical Synapses R-HSA-112316 Neuronal System
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