P31644 (GBRA5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gamma-aminobutyric acid receptor subunit alpha-5

Alternative name(s):
GABA(A) receptor subunit alpha-5

Gene names

Name:

GABRA5

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	462 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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	Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.
Subcellular location	Cell junction › synapse › postsynaptic 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. GABRA5 sub-subfamily. [View classification]

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Domain	Signal Transmembrane Transmembrane helix
Ligand	Chloride
Molecular function	Chloride channel Ion channel Ligand-gated ion channel Receptor
PTM	Disulfide bond Glycoprotein Isopeptide bond Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	associative learning Inferred from electronic annotation. Source: Compara behavioral fear response Inferred from electronic annotation. Source: Compara brain development Inferred from electronic annotation. Source: Compara cochlea development Inferred from electronic annotation. Source: Compara gamma-aminobutyric acid signaling pathway Inferred from electronic annotation. Source: InterPro inner ear receptor cell development Inferred from electronic annotation. Source: Compara innervation Inferred from electronic annotation. Source: Compara ion transmembrane transport Traceable author statement. Source: Reactome sensory perception of sound Inferred from electronic annotation. Source: Compara signal transduction Traceable author statement Ref.2. Source: ProtInc synaptic transmission Traceable author statement. Source: Reactome
Cellular_component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW chloride channel complex Inferred from electronic annotation. Source: UniProtKB-KW dendrite Inferred from electronic annotation. Source: Compara integral to plasma membrane Traceable author statement Ref.2. Source: ProtInc neuronal cell body membrane Inferred from electronic annotation. Source: Compara postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-SubCell receptor complex Inferred from electronic annotation. Source: Compara
Molecular_function	GABA-A receptor activity Inferred from electronic annotation. Source: Compara chloride channel activity Inferred from electronic annotation. Source: UniProtKB-KW extracellular ligand-gated ion channel activity Inferred from electronic annotation. Source: InterPro receptor activity Traceable author statement Ref.2. Source: ProtInc transporter activity Traceable author statement Ref.2. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 31	31	Potential
	Chain	32 – 462	431	Gamma-aminobutyric acid receptor subunit alpha-5		PRO_0000000444
Regions
	Topological domain	32 – 259	228	Extracellular Potential
	Transmembrane	260 – 281	22	Helical; Potential
	Transmembrane	286 – 307	22	Helical; Potential
	Transmembrane	319 – 341	23	Helical; Potential
	Topological domain	342 – 427	86	Cytoplasmic Potential
	Transmembrane	428 – 449	22	Helical; Potential
Amino acid modifications
	Glycosylation	45	1	N-linked (GlcNAc...) Potential
	Glycosylation	145	1	N-linked (GlcNAc...) Potential
	Glycosylation	207	1	N-linked (GlcNAc...) Potential
	Glycosylation	236	1	N-linked (GlcNAc...) Potential
	Disulfide bond	173 ↔ 187		By similarity
	Cross-link	355		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.8

Sequences

	Sequence		Length	Mass (Da)
	P31644 [UniParc]. Last modified July 1, 1993. Version 1. Checksum: 260A8B554113AFF9	FASTA	462	52,146
	10 20 30 40 50 60 MDNGMFSGFI MIKNLLLFCI SMNLSSHFGF SQMPTSSVKD ETNDNITIFT RILDGLLDGY 70 80 90 100 110 120 DNRLRPGLGE RITQVRTDIY VTSFGPVSDT EMEYTIDVFF RQSWKDERLR FKGPMQRLPL 130 140 150 160 170 180 NNLLASKIWT PDTFFHNGKK SIAHNMTTPN KLLRLEDDGT LLYTMRLTIS AECPMQLEDF 190 200 210 220 230 240 PMDAHACPLK FGSYAYPNSE VVYVWTNGST KSVVVAEDGS RLNQYHLMGQ TVGTENISTS 250 260 270 280 290 300 TGEYTIMTAH FHLKRKIGYF VIQTYLPCIM TVILSQVSFW LNRESVPART VFGVTTVLTM 310 320 330 340 350 360 TTLSISARNS LPKVAYATAM DWFIAVCYAF VFSALIEFAT VNYFTKRGWA WDGKKALEAA 370 380 390 400 410 420 KIKKKREVIL NKSTNAFTTG KMSHPPNIPK EQTPAGTSNT TSVSVKPSEE KTSESKKTYN 430 440 450 460 SISKIDKMSR IVFPVLFGTF NLVYWATYLN REPVIKGAAS PK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions." Knoll J.H., Sinnett D., Wagstaff J., Glatt K.A., Wilcox A.S., Whiting P.J., Wingrove P., Sikela J.M., Lalande M. Hum. Mol. Genet. 2:183-189(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Cloning and expression of a cDNA encoding the human GABA-A receptor alpha 5 subunit." Wingrove P., Hadingham K., Wafford K., Kemp J.A., Ragan C.I., Whiting P. Biochem. Soc. Trans. 20:18S-18S(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"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. , 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: Brain.
[4]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	"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]. Tissue: Brain.
[6]	"Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region." Kim Y., Glatt H., Xie W., Sinnett D., Lalande M. Genomics 42:378-387(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-29. Tissue: Fetal brain.
[7]	"Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 subunit gene (GABRA5)." Kim S.-J., Gonen D., Yang Z.-Y., Reliford A., Dy A., Leventhal B.L., Cook E.H. Jr. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 71-166; 195-241 AND 294-363.
[8]	"Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry." Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D. Proteomics 7:868-874(2007) [PubMed] [Europe PMC] [Abstract] Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-355, MASS SPECTROMETRY. Tissue: Mammary cancer.
+	Additional computationally mapped references.

Web resources

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Cross-references

Sequence databases
EMBL GenBank DDBJ	L08485 mRNA. Translation: AAA58490.1. AK290453 mRNA. Translation: BAF83142.1. BT009830 mRNA. Translation: AAP88832.1. BC111979 mRNA. Translation: AAI11980.1. BC113422 mRNA. Translation: AAI13423.1. AF061785 Genomic DNA. Translation: AAC31809.1. AF228447 Genomic DNA. Translation: AAF62508.1. AF228448 Genomic DNA. Translation: AAF62509.1. AF228449 Genomic DNA. Translation: AAF62510.1.
IPI	IPI00012471.
PIR	A48933.
RefSeq	NP_000801.1. NM_000810.3. NP_001158509.1. NM_001165037.1.
UniGene	Hs.24969.
3D structure databases
ProteinModelPortal	P31644.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000335592.
PTM databases
PhosphoSite	P31644.
Polymorphism databases
DMDM	399519.
Proteomic databases
PaxDb	P31644.
PRIDE	P31644.
Protocols and materials databases
DNASU	2558.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000335625; ENSP00000335592; ENSG00000186297. ENST00000355395; ENSP00000347557; ENSG00000186297. ENST00000400081; ENSP00000382953; ENSG00000186297.
GeneID	2558.
KEGG	hsa:2558.
UCSC	uc001zbd.2. human.
Organism-specific databases
CTD	2558.
GeneCards	GC15P027112.
HGNC	HGNC:4079. GABRA5.
MIM	137142. gene.
neXtProt	NX_P31644.
PharmGKB	PA28493.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG238757.
HOGENOM	HOG000231337.
HOVERGEN	HBG051707.
InParanoid	P31644.
KO	K05175.
OMA	WTNGTTK.
OrthoDB	EOG4X0MSC.
PhylomeDB	P31644.
Enzyme and pathway databases
Reactome	REACT_13685. Neuronal System. REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	P31644.
Bgee	P31644.
CleanEx	HS_GABRA5.
Genevestigator	P31644.
GermOnline	ENSG00000186297. Homo sapiens.
Family and domain databases
Gene3D	2.70.170.10. 1 hit.
InterPro	IPR006028. GABAA_rcpt. IPR001390. GABAAa_rcpt. IPR005435. GABBAa5_rcpt. IPR006202. Neur_chan_lig-bd. IPR006201. Neur_channel. IPR006029. Neurotrans-gated_channel_TM. IPR018000. Neurotransmitter_ion_chnl_CS. [Graphical view]
PANTHER	PTHR18945. PTHR18945. 1 hit.
Pfam	PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 2 hits. [Graphical view]
PRINTS	PR01079. GABAARALPHA. PR01618. GABAARALPHA5. PR00253. GABAARECEPTR. PR00252. NRIONCHANNEL.
SUPFAM	SSF90112. Neu_channel_TM. 1 hit. SSF63712. Neur_chan_LBD. 1 hit.
TIGRFAMs	TIGR00860. LIC. 1 hit.
PROSITE	PS00236. NEUROTR_ION_CHANNEL. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	P31644.
ChEMBL	CHEMBL5112.
DrugBank	DB00404. Alprazolam. DB00189. Ethchlorvynol. DB01544. Flunitrazepam. DB00690. Flurazepam. DB00186. Lorazepam. DB00371. Meprobamate. DB00683. Midazolam.
GenomeRNAi	2558.
NextBio	10103.
SOURCE	Search...

Entry information

Entry name

GBRA5_HUMAN

Accession

Primary (citable) accession number: P31644
Secondary accession number(s): A8K338 , Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	July 1, 1993
Last modified:	May 1, 2013
This is version 136 of the entry and version 1 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.