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Q16445 (GBRA6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 131. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gamma-aminobutyric acid receptor subunit alpha-6
Alternative name(s):
GABA(A) receptor subunit alpha-6
Gene names
Name:GABRA6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length453 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

Subunit structure

Binds UBQLN1 By similarity. Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.

Subcellular location

Cell junctionsynapsepostsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Sequence similarities

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA6 sub-subfamily. [View classification]

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell junction
Cell membrane
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityPolymorphism
   DomainSignal
Transmembrane
Transmembrane helix
   LigandChloride
   Molecular functionChloride channel
Ion channel
Ligand-gated ion channel
Receptor
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processgamma-aminobutyric acid signaling pathway

Inferred from electronic annotation. Source: InterPro

ion transmembrane transport

Traceable author statement. Source: Reactome

signal transduction

Traceable author statement Ref.1. Source: ProtInc

synaptic transmission

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

transport

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentcell junction

Inferred from electronic annotation. Source: UniProtKB-KW

chloride channel complex

Inferred from electronic annotation. Source: UniProtKB-KW

integral component of plasma membrane

Traceable author statement Ref.1. Source: ProtInc

plasma membrane

Traceable author statement. Source: Reactome

postsynaptic membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionGABA-A receptor activity

Inferred from electronic annotation. Source: InterPro

benzodiazepine receptor activity

Traceable author statement Ref.1. Source: ProtInc

chloride channel activity

Inferred from electronic annotation. Source: UniProtKB-KW

extracellular ligand-gated ion channel activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Potential
Chain20 – 453434Gamma-aminobutyric acid receptor subunit alpha-6
PRO_0000000447

Regions

Topological domain20 – 242223Extracellular Probable
Transmembrane243 – 26422Helical; Probable
Transmembrane269 – 29022Helical; Probable
Transmembrane301 – 32424Helical; Probable
Topological domain325 – 41995Cytoplasmic Probable
Transmembrane420 – 44122Helical; Probable

Amino acid modifications

Glycosylation311N-linked (GlcNAc...) Potential
Glycosylation1281N-linked (GlcNAc...) Potential
Glycosylation1411N-linked (GlcNAc...) Potential
Disulfide bond156 ↔ 170 By similarity

Natural variations

Natural variant1801P → H in a colorectal cancer sample; somatic mutation. Ref.5
VAR_036033
Natural variant1871T → M.
Corresponds to variant rs3811993 [ dbSNP | Ensembl ].
VAR_036782
Natural variant4041P → S.
Corresponds to variant rs34907804 [ dbSNP | Ensembl ].
VAR_036783

Experimental info

Sequence conflict4081S → P in AAB36480. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q16445 [UniParc].

Last modified February 20, 2007. Version 2.
Checksum: 5C9F85845BC8E3B0

FASTA45351,024
        10         20         30         40         50         60 
MASSLPWLCI ILWLENALGK LEVEGNFYSE NVSRILDNLL EGYDNRLRPG FGGAVTEVKT 

        70         80         90        100        110        120 
DIYVTSFGPV SDVEMEYTMD VFFRQTWTDE RLKFGGPTEI LSLNNLMVSK IWTPDTFFRN 

       130        140        150        160        170        180 
GKKSIAHNMT TPNKLFRIMQ NGTILYTMRL TINADCPMRL VNFPMDGHAC PLKFGSYAYP 

       190        200        210        220        230        240 
KSEIIYTWKK GPLYSVEVPE ESSSLLQYDL IGQTVSSETI KSNTGEYVIM TVYFHLQRKM 

       250        260        270        280        290        300 
GYFMIQIYTP CIMTVILSQV SFWINKESVP ARTVFGITTV LTMTTLSISA RHSLPKVSYA 

       310        320        330        340        350        360 
TAMDWFIAVC FAFVFSALIE FAAVNYFTNL QTQKAKRKAQ FAAPPTVTIS KATEPLEAEI 

       370        380        390        400        410        420 
VLHPDSKYHL KKRITSLSLP IVSSSEANKV LTRAPILQST PVTPPPLSPA FGGTSKIDQY 

       430        440        450 
SRILFPVAFA GFNLVYWVVY LSKDTMEVSS SVE 

« Hide

References

« Hide 'large scale' references
[1]"Cloning of cDNAs encoding the human gamma-aminobutyric acid type A receptor alpha 6 subunit and characterization of the pharmacology of alpha 6-containing receptors."
Hadingham K.L., Garrett E.M., Wafford K.A., Bain C., Heavens R.P., Sirinathsinghji D.J., Whiting P.J.
Mol. Pharmacol. 49:253-259(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Cerebellum.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Cerebellum.
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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].
[5]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-180.
+Additional computationally mapped references.

Web resources

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
S81944 mRNA. Translation: AAB36480.1.
AK289461 mRNA. Translation: BAF82150.1.
CH471062 Genomic DNA. Translation: EAW61542.1.
BC096241 mRNA. Translation: AAH96241.1.
BC096242 mRNA. Translation: AAH96242.1.
BC099640 mRNA. Translation: AAH99640.1.
BC099641 mRNA. Translation: AAH99641.1.
CCDSCCDS4356.1.
RefSeqNP_000802.2. NM_000811.2.
UniGeneHs.90791.

3D structure databases

ProteinModelPortalQ16445.
SMRQ16445. Positions 33-334.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108833. 1 interaction.
STRING9606.ENSP00000274545.

Chemistry

BindingDBQ16445.
ChEMBLCHEMBL2111370.
DrugBankDB00404. Alprazolam.
DB00189. Ethchlorvynol.
DB01544. Flunitrazepam.
DB00690. Flurazepam.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB00683. Midazolam.
GuidetoPHARMACOLOGY409.

PTM databases

PhosphoSiteQ16445.

Polymorphism databases

DMDM126302548.

Proteomic databases

PaxDbQ16445.
PRIDEQ16445.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000274545; ENSP00000274545; ENSG00000145863.
GeneID2559.
KEGGhsa:2559.
UCSCuc003lyu.2. human.

Organism-specific databases

CTD2559.
GeneCardsGC05P161045.
H-InvDBHIX0005382.
HGNCHGNC:4080. GABRA6.
HPACAB022462.
HPA019188.
HPA058329.
MIM137143. gene.
neXtProtNX_Q16445.
PharmGKBPA28494.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG238757.
HOGENOMHOG000231337.
HOVERGENHBG051707.
InParanoidQ16445.
KOK05175.
OMATRAPILQ.
OrthoDBEOG7JX342.
PhylomeDBQ16445.
TreeFamTF315453.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ16445.
BgeeQ16445.
CleanExHS_GABRA6.
GenevestigatorQ16445.

Family and domain databases

Gene3D2.70.170.10. 1 hit.
InterProIPR006028. GABAA/Glycine_rcpt.
IPR001390. GABAAa_rcpt.
IPR005436. GABBAa6_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERPTHR18945. PTHR18945. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSPR01079. GABAARALPHA.
PR01619. GABAARALPHA6.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGABRA6.
GenomeRNAi2559.
NextBio10107.
PROQ16445.
SOURCESearch...

Entry information

Entry nameGBRA6_HUMAN
AccessionPrimary (citable) accession number: Q16445
Secondary accession number(s): A8K096, Q4VAV2
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 20, 2007
Last modified: July 9, 2014
This is version 131 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

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

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 5

Human chromosome 5: entries, gene names and cross-references to MIM