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P30531 (SC6A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length599 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processNeurotransmitter transport
Symport
Transport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processgamma-aminobutyric acid import

Inferred from electronic annotation. Source: Ensembl

learning

Inferred from electronic annotation. Source: Ensembl

negative regulation of synaptic transmission, GABAergic

Inferred from electronic annotation. Source: Ensembl

neurotransmitter secretion

Traceable author statement. Source: Reactome

positive regulation of gamma-aminobutyric acid secretion

Inferred from electronic annotation. Source: Ensembl

protein homooligomerization

Inferred from electronic annotation. Source: Ensembl

response to calcium ion

Inferred from electronic annotation. Source: Ensembl

response to cocaine

Inferred from electronic annotation. Source: Ensembl

response to estradiol

Inferred from electronic annotation. Source: Ensembl

response to lead ion

Inferred from electronic annotation. Source: Ensembl

response to purine-containing compound

Inferred from electronic annotation. Source: Ensembl

response to sucrose

Inferred from electronic annotation. Source: Ensembl

response to toxic substance

Inferred from electronic annotation. Source: Ensembl

synaptic transmission

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

transport

Non-traceable author statement PubMed 8530094. Source: ProtInc

   Cellular_componentaxon

Inferred from electronic annotation. Source: Ensembl

cell surface

Inferred from electronic annotation. Source: Ensembl

integral component of membrane

Traceable author statement PubMed 8530094. Source: ProtInc

integral component of plasma membrane

Inferred from electronic annotation. Source: InterPro

membrane

Traceable author statement Ref.1. Source: ProtInc

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functiongamma-aminobutyric acid:sodium symporter activity

Inferred from electronic annotation. Source: Ensembl

neurotransmitter:sodium symporter activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 599599Sodium- and chloride-dependent GABA transporter 1
PRO_0000214743

Regions

Topological domain1 – 5252Cytoplasmic Potential
Transmembrane53 – 7321Helical; Name=1; Potential
Transmembrane81 – 10020Helical; Name=2; Potential
Transmembrane124 – 14421Helical; Name=3; Potential
Topological domain145 – 21167Extracellular Potential
Transmembrane212 – 23019Helical; Name=4; Potential
Transmembrane239 – 25618Helical; Name=5; Potential
Transmembrane292 – 30918Helical; Name=6; Potential
Transmembrane321 – 34222Helical; Name=7; Potential
Transmembrane375 – 39420Helical; Name=8; Potential
Transmembrane422 – 44019Helical; Name=9; Potential
Transmembrane457 – 47721Helical; Name=10; Potential
Transmembrane498 – 51720Helical; Name=11; Potential
Transmembrane536 – 55419Helical; Name=12; Potential
Topological domain555 – 59945Cytoplasmic Potential
Motif597 – 5993PDZ-binding

Amino acid modifications

Glycosylation1761N-linked (GlcNAc...) Potential
Glycosylation1811N-linked (GlcNAc...) Potential
Glycosylation1841N-linked (GlcNAc...) Potential

Natural variations

Natural variant5211P → Q. Ref.3
Corresponds to variant rs17855574 [ dbSNP | Ensembl ].
VAR_055088

Experimental info

Sequence conflict5581T → A in CAA38484. Ref.1
Sequence conflict5771I → T in CAA38484. Ref.1
Sequence conflict586 – 5872QP → HA in CAA38484. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P30531 [UniParc].

Last modified May 5, 2009. Version 2.
Checksum: 094DB39C1D3B75D2

FASTA59967,074
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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.
CCDSCCDS2603.1.
PIRS11073.
RefSeqNP_003033.3. NM_003042.3.
XP_005265467.1. XM_005265410.2.
XP_005265468.1. XM_005265411.2.
XP_006713369.1. XM_006713306.1.
UniGeneHs.443874.

3D structure databases

ProteinModelPortalP30531.
SMRP30531. Positions 43-576.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112420. 2 interactions.
IntActP30531. 1 interaction.
STRING9606.ENSP00000287766.

Chemistry

BindingDBP30531.
ChEMBLCHEMBL1903.
DrugBankDB00907. Cocaine.
DB00906. Tiagabine.
GuidetoPHARMACOLOGY929.

Protein family/group databases

TCDB2.A.22.3.2. the neurotransmitter:sodium symporter (nss) family.

PTM databases

PhosphoSiteP30531.

Polymorphism databases

DMDM229462780.

Proteomic databases

PaxDbP30531.
PRIDEP30531.

Protocols and materials databases

DNASU6529.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000287766; ENSP00000287766; ENSG00000157103.
GeneID6529.
KEGGhsa:6529.
UCSCuc010hdq.3. human.

Organism-specific databases

CTD6529.
GeneCardsGC03P011009.
HGNCHGNC:11042. SLC6A1.
HPACAB022293.
HPA013341.
MIM137165. gene.
neXtProtNX_P30531.
PharmGKBPA309.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0733.
HOGENOMHOG000116406.
HOVERGENHBG071421.
InParanoidP30531.
KOK05034.
OMAFFFNIVQ.
OrthoDBEOG793B71.
PhylomeDBP30531.
TreeFamTF343812.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.
REACT_15518. Transmembrane transport of small molecules.
REACT_20679. Amine compound SLC transporters.
SABIO-RKP30531.

Gene expression databases

ArrayExpressP30531.
BgeeP30531.
CleanExHS_SLC6A1.
GenevestigatorP30531.

Family and domain databases

InterProIPR000175. Na/ntran_symport.
IPR002980. Na/ntran_symport_GABA_GAT1.
[Graphical view]
PANTHERPTHR11616. PTHR11616. 1 hit.
PfamPF00209. SNF. 1 hit.
[Graphical view]
PRINTSPR01195. GAT1TRNSPORT.
PR00176. NANEUSMPORT.
PROSITEPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGABA_transporter_1.
GenomeRNAi6529.
NextBio25403.
PROP30531.
SOURCESearch...

Entry information

Entry nameSC6A1_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 123 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM