P30531 (SC6A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sodium- and chloride-dependent GABA transporter 1
Short name=GAT-1

Alternative name(s):
Solute carrier family 6 member 1

Gene names

Name:	SLC6A1
Synonyms:	GABATR, GABT1, GAT1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	599 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals.
Subunit structure	Interacts with MPP5 By similarity.
Subcellular location	Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Note: Localized at the plasma membrane and in a subset of intracellular vesicles. Localized at the presynaptic terminals of interneurons By similarity.
Domain	The PDZ domain-binding motif is involved in the interaction with MPP5.
Miscellaneous	This protein is the target of psychomotor stimulants such as amphetamines or cocaine.
Sequence similarities	Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A1 subfamily. [View classification]

Ontologies

Keywords
Biological process	Neurotransmitter transport Symport Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	gamma-aminobutyric acid import Inferred from electronic annotation. Source: Compara learning Inferred from electronic annotation. Source: Compara negative regulation of synaptic transmission, GABAergic Inferred from electronic annotation. Source: Compara neurotransmitter secretion Traceable author statement. Source: Reactome positive regulation of gamma-aminobutyric acid secretion Inferred from electronic annotation. Source: Compara protein homooligomerization Inferred from electronic annotation. Source: Compara response to calcium ion Inferred from electronic annotation. Source: Compara response to cocaine Inferred from electronic annotation. Source: Compara response to estradiol stimulus Inferred from electronic annotation. Source: Compara response to lead ion Inferred from electronic annotation. Source: Compara response to purine-containing compound Inferred from electronic annotation. Source: Compara response to sucrose stimulus Inferred from electronic annotation. Source: Compara response to toxin Inferred from electronic annotation. Source: Compara transmembrane transport Traceable author statement. Source: Reactome
Cellular_component	axon Inferred from electronic annotation. Source: Compara cell surface Inferred from electronic annotation. Source: Compara integral to membrane Traceable author statement PubMed 8530094. Source: ProtInc integral to plasma membrane Inferred from electronic annotation. Source: InterPro plasma membrane Traceable author statement. Source: Reactome
Molecular_function	gamma-aminobutyric acid:sodium symporter activity Inferred from electronic annotation. Source: Compara neurotransmitter:sodium symporter activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 599	599	Sodium- and chloride-dependent GABA transporter 1		PRO_0000214743
Regions
	Topological domain	1 – 52	52	Cytoplasmic Potential
	Transmembrane	53 – 73	21	Helical; Name=1; Potential
	Transmembrane	81 – 100	20	Helical; Name=2; Potential
	Transmembrane	124 – 144	21	Helical; Name=3; Potential
	Topological domain	145 – 211	67	Extracellular Potential
	Transmembrane	212 – 230	19	Helical; Name=4; Potential
	Transmembrane	239 – 256	18	Helical; Name=5; Potential
	Transmembrane	292 – 309	18	Helical; Name=6; Potential
	Transmembrane	321 – 342	22	Helical; Name=7; Potential
	Transmembrane	375 – 394	20	Helical; Name=8; Potential
	Transmembrane	422 – 440	19	Helical; Name=9; Potential
	Transmembrane	457 – 477	21	Helical; Name=10; Potential
	Transmembrane	498 – 517	20	Helical; Name=11; Potential
	Transmembrane	536 – 554	19	Helical; Name=12; Potential
	Topological domain	555 – 599	45	Cytoplasmic Potential
	Motif	597 – 599	3	PDZ-binding
Amino acid modifications
	Glycosylation	176	1	N-linked (GlcNAc...) Potential
	Glycosylation	181	1	N-linked (GlcNAc...) Potential
	Glycosylation	184	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	521	1	P → Q. Ref.3 Corresponds to variant rs17855574 [ dbSNP | Ensembl ].		VAR_055088
Experimental info
	Sequence conflict	558	1	T → A in CAA38484. Ref.1
	Sequence conflict	577	1	I → T in CAA38484. Ref.1
	Sequence conflict	586 – 587	2	QP → HA in CAA38484. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P30531 [UniParc]. Last modified May 5, 2009. Version 2. Checksum: 094DB39C1D3B75D2	FASTA	599	67,074
	10 20 30 40 50 60 MATNGSKVAD GQISTEVSEA PVANDKPKTL VVKVQKKAAD LPDRDTWKGR FDFLMSCVGY 70 80 90 100 110 120 AIGLGNVWRF PYLCGKNGGG AFLIPYFLTL IFAGVPLFLL ECSLGQYTSI GGLGVWKLAP 130 140 150 160 170 180 MFKGVGLAAA VLSFWLNIYY IVIISWAIYY LYNSFTTTLP WKQCDNPWNT DRCFSNYSMV 190 200 210 220 230 240 NTTNMTSAVV EFWERNMHQM TDGLDKPGQI RWPLAITLAI AWILVYFCIW KGVGWTGKVV 250 260 270 280 290 300 YFSATYPYIM LIILFFRGVT LPGAKEGILF YITPNFRKLS DSEVWLDAAT QIFFSYGLGL 310 320 330 340 350 360 GSLIALGSYN SFHNNVYRDS IIVCCINSCT SMFAGFVIFS IVGFMAHVTK RSIADVAASG 370 380 390 400 410 420 PGLAFLAYPE AVTQLPISPL WAILFFSMLL MLGIDSQFCT VEGFITALVD EYPRLLRNRR 430 440 450 460 470 480 ELFIAAVCII SYLIGLSNIT QGGIYVFKLF DYYSASGMSL LFLVFFECVS ISWFYGVNRF 490 500 510 520 530 540 YDNIQEMVGS RPCIWWKLCW SFFTPIIVAG VFIFSAVQMT PLTMGNYVFP KWGQGVGWLM 550 560 570 580 590 ALSSMVLIPG YMAYMFLTLK GSLKQRIQVM VQPSEDIVRP ENGPEQPQAG SSTSKEAYI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of the human brain GABA transporter." Nelson H., Mandiyan S., Nelson N. FEBS Lett. 269:181-184(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A. Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-521. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X54673 mRNA. Translation: CAA38484.1. AC024910 Genomic DNA. No translation available. BC033904 mRNA. Translation: AAH33904.1.
IPI	IPI00026846.
PIR	S11073.
RefSeq	NP_003033.3. NM_003042.3.
UniGene	Hs.443874.
3D structure databases
ProteinModelPortal	P30531.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000287766.
Protein family/group databases
TCDB	2.A.22.3.2. neurotransmitter:sodium symporter (NSS) family.
PTM databases
PhosphoSite	P30531.
Polymorphism databases
DMDM	229462780.
Proteomic databases
PaxDb	P30531.
PRIDE	P30531.
Protocols and materials databases
DNASU	6529.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000287766; ENSP00000287766; ENSG00000157103.
GeneID	6529.
KEGG	hsa:6529.
UCSC	uc010hdq.3. human.
Organism-specific databases
CTD	6529.
GeneCards	GC03P011009.
HGNC	HGNC:11042. SLC6A1.
HPA	CAB022293. HPA013341.
MIM	137165. gene.
neXtProt	NX_P30531.
PharmGKB	PA309.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0733.
HOGENOM	HOG000116406.
HOVERGEN	HBG071421.
InParanoid	P30531.
KO	K05034.
OMA	NSFTTEL.
OrthoDB	EOG4JQ3X4.
Enzyme and pathway databases
Reactome	REACT_13685. Neuronal System. REACT_15518. Transmembrane transport of small molecules. REACT_20679. Amine compound SLC transporters.
Gene expression databases
ArrayExpress	P30531.
Bgee	P30531.
CleanEx	HS_SLC6A1.
Genevestigator	P30531.
GermOnline	ENSG00000157103. Homo sapiens.
Family and domain databases
InterPro	IPR000175. Na/ntran_symport. IPR002980. Na/ntran_symport_GABA_GAT1. [Graphical view]
PANTHER	PTHR11616. PTHR11616. 1 hit.
Pfam	PF00209. SNF. 1 hit. [Graphical view]
PRINTS	PR01195. GAT1TRNSPORT. PR00176. NANEUSMPORT.
PROSITE	PS00610. NA_NEUROTRAN_SYMP_1. 1 hit. PS00754. NA_NEUROTRAN_SYMP_2. 1 hit. PS50267. NA_NEUROTRAN_SYMP_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	P30531.
ChEMBL	CHEMBL1903.
DrugBank	DB00907. Cocaine. DB00906. Tiagabine.
GenomeRNAi	6529.
NextBio	25403.
SOURCE	Search...

Entry information

Entry name

SC6A1_HUMAN

Accession

Primary (citable) accession number: P30531
Secondary accession number(s): Q8N4K8

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1993
Last sequence update:	May 5, 2009
Last modified:	April 3, 2013
This is version 111 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.