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Protein

Gamma-aminobutyric acid receptor subunit alpha-5

Gene

GABRA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. chloride channel activity Source: UniProtKB-KW
  2. extracellular ligand-gated ion channel activity Source: InterPro
  3. GABA-A receptor activity Source: Ensembl
  4. receptor activity Source: ProtInc
  5. transporter activity Source: ProtInc

GO - Biological processi

  1. associative learning Source: Ensembl
  2. behavioral fear response Source: Ensembl
  3. brain development Source: Ensembl
  4. cochlea development Source: Ensembl
  5. gamma-aminobutyric acid signaling pathway Source: InterPro
  6. inner ear receptor cell development Source: Ensembl
  7. innervation Source: Ensembl
  8. ion transmembrane transport Source: Reactome
  9. negative regulation of neuron apoptotic process Source: Ensembl
  10. sensory perception of sound Source: Ensembl
  11. signal transduction Source: ProtInc
  12. synaptic transmission Source: Reactome
  13. transmembrane transport Source: Reactome
  14. transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

ReactomeiREACT_24987. GABA A receptor activation.
REACT_25387. Ligand-gated ion channel transport.
REACT_267716. Orphan transporters.

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit alpha-5
Alternative name(s):
GABA(A) receptor subunit alpha-5
Gene namesi
Name:GABRA5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:4079. GABRA5.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini32 – 259228ExtracellularSequence AnalysisAdd
BLAST
Transmembranei260 – 28122HelicalSequence AnalysisAdd
BLAST
Transmembranei286 – 30722HelicalSequence AnalysisAdd
BLAST
Transmembranei319 – 34123HelicalSequence AnalysisAdd
BLAST
Topological domaini342 – 42786CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei428 – 44922HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. chloride channel complex Source: UniProtKB-KW
  3. dendrite Source: Ensembl
  4. integral component of plasma membrane Source: ProtInc
  5. neuronal cell body membrane Source: Ensembl
  6. plasma membrane Source: Reactome
  7. postsynaptic membrane Source: UniProtKB-SubCell
  8. receptor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28493.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3131Sequence AnalysisAdd
BLAST
Chaini32 – 462431Gamma-aminobutyric acid receptor subunit alpha-5PRO_0000000444Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi45 – 451N-linked (GlcNAc...)Sequence Analysis
Glycosylationi145 – 1451N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi173 ↔ 187By similarity
Glycosylationi207 – 2071N-linked (GlcNAc...)Sequence Analysis
Glycosylationi236 – 2361N-linked (GlcNAc...)Sequence Analysis
Cross-linki355 – 355Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiP31644.
PaxDbiP31644.
PRIDEiP31644.

PTM databases

PhosphoSiteiP31644.

Expressioni

Gene expression databases

BgeeiP31644.
CleanExiHS_GABRA5.
ExpressionAtlasiP31644. baseline and differential.
GenevestigatoriP31644.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi108832. 1 interaction.
STRINGi9606.ENSP00000335592.

Structurei

3D structure databases

ProteinModelPortaliP31644.
SMRiP31644. Positions 53-364.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG238757.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiP31644.
KOiK05175.
OMAiWTNGTTK.
OrthoDBiEOG7JX342.
PhylomeDBiP31644.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_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]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 2 hits.
[Graphical view]
PRINTSiPR01079. GABAARALPHA.
PR01618. GABAARALPHA5.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P31644-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDNGMFSGFI MIKNLLLFCI SMNLSSHFGF SQMPTSSVKD ETNDNITIFT
60 70 80 90 100
RILDGLLDGY DNRLRPGLGE RITQVRTDIY VTSFGPVSDT EMEYTIDVFF
110 120 130 140 150
RQSWKDERLR FKGPMQRLPL NNLLASKIWT PDTFFHNGKK SIAHNMTTPN
160 170 180 190 200
KLLRLEDDGT LLYTMRLTIS AECPMQLEDF PMDAHACPLK FGSYAYPNSE
210 220 230 240 250
VVYVWTNGST KSVVVAEDGS RLNQYHLMGQ TVGTENISTS TGEYTIMTAH
260 270 280 290 300
FHLKRKIGYF VIQTYLPCIM TVILSQVSFW LNRESVPART VFGVTTVLTM
310 320 330 340 350
TTLSISARNS LPKVAYATAM DWFIAVCYAF VFSALIEFAT VNYFTKRGWA
360 370 380 390 400
WDGKKALEAA KIKKKREVIL NKSTNAFTTG KMSHPPNIPK EQTPAGTSNT
410 420 430 440 450
TSVSVKPSEE KTSESKKTYN SISKIDKMSR IVFPVLFGTF NLVYWATYLN
460
REPVIKGAAS PK
Length:462
Mass (Da):52,146
Last modified:July 1, 1993 - v1
Checksum:i260A8B554113AFF9
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS45194.1.
PIRiA48933.
RefSeqiNP_000801.1. NM_000810.3.
NP_001158509.1. NM_001165037.1.
XP_005268315.1. XM_005268258.1.
XP_006720522.1. XM_006720459.1.
UniGeneiHs.24969.

Genome annotation databases

EnsembliENST00000335625; ENSP00000335592; ENSG00000186297.
ENST00000355395; ENSP00000347557; ENSG00000186297.
ENST00000400081; ENSP00000382953; ENSG00000186297.
GeneIDi2558.
KEGGihsa:2558.
UCSCiuc001zbd.2. human.

Polymorphism databases

DMDMi399519.

Cross-referencesi

Web resourcesi

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS45194.1.
PIRiA48933.
RefSeqiNP_000801.1. NM_000810.3.
NP_001158509.1. NM_001165037.1.
XP_005268315.1. XM_005268258.1.
XP_006720522.1. XM_006720459.1.
UniGeneiHs.24969.

3D structure databases

ProteinModelPortaliP31644.
SMRiP31644. Positions 53-364.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108832. 1 interaction.
STRINGi9606.ENSP00000335592.

Chemistry

BindingDBiP31644.
ChEMBLiCHEMBL2093872.
DrugBankiDB00659. Acamprosate.
DB00546. Adinazolam.
DB00404. Alprazolam.
DB01351. Amobarbital.
DB00543. Amoxapine.
DB01352. Aprobarbital.
DB01558. Bromazepam.
DB00237. Butabarbital.
DB00241. Butalbital.
DB01353. Butethal.
DB00475. Chlordiazepoxide.
DB01594. Cinolazepam.
DB00349. Clobazam.
DB01068. Clonazepam.
DB00628. Clorazepate.
DB01559. Clotiazepam.
DB01189. Desflurane.
DB00829. Diazepam.
DB00228. Enflurane.
DB01049. Ergoloid mesylate.
DB01215. Estazolam.
DB00402. Eszopiclone.
DB00189. Ethchlorvynol.
DB00292. Etomidate.
DB01567. Fludiazepam.
DB01205. Flumazenil.
DB01544. Flunitrazepam.
DB00690. Flurazepam.
DB01437. Glutethimide.
DB00801. Halazepam.
DB01159. Halothane.
DB01354. Heptabarbital.
DB01355. Hexobarbital.
DB00753. Isoflurane.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB01028. Methoxyflurane.
DB00849. Methylphenobarbital.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00818. Propofol.
DB01589. Quazepam.
DB00418. Secobarbital.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
DB00599. Thiopental.
DB00273. Topiramate.
DB00897. Triazolam.
DB01198. Zopiclone.
GuidetoPHARMACOLOGYi408.

PTM databases

PhosphoSiteiP31644.

Polymorphism databases

DMDMi399519.

Proteomic databases

MaxQBiP31644.
PaxDbiP31644.
PRIDEiP31644.

Protocols and materials databases

DNASUi2558.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335625; ENSP00000335592; ENSG00000186297.
ENST00000355395; ENSP00000347557; ENSG00000186297.
ENST00000400081; ENSP00000382953; ENSG00000186297.
GeneIDi2558.
KEGGihsa:2558.
UCSCiuc001zbd.2. human.

Organism-specific databases

CTDi2558.
GeneCardsiGC15P027112.
GeneReviewsiGABRA5.
HGNCiHGNC:4079. GABRA5.
MIMi137142. gene.
neXtProtiNX_P31644.
PharmGKBiPA28493.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG238757.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiP31644.
KOiK05175.
OMAiWTNGTTK.
OrthoDBiEOG7JX342.
PhylomeDBiP31644.
TreeFamiTF315453.

Enzyme and pathway databases

ReactomeiREACT_24987. GABA A receptor activation.
REACT_25387. Ligand-gated ion channel transport.
REACT_267716. Orphan transporters.

Miscellaneous databases

GeneWikiiGABRA5.
GenomeRNAii2558.
NextBioi10103.
PROiP31644.
SOURCEiSearch...

Gene expression databases

BgeeiP31644.
CleanExiHS_GABRA5.
ExpressionAtlasiP31644. baseline and differential.
GenevestigatoriP31644.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_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]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 2 hits.
[Graphical view]
PRINTSiPR01079. GABAARALPHA.
PR01618. GABAARALPHA5.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    Tissue: Mammary cancer.

Entry informationi

Entry nameiGBRA5_HUMAN
AccessioniPrimary (citable) accession number: P31644
Secondary accession number(s): A8K338
, Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: January 7, 2015
This is version 152 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.