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P31644

- GBRA5_HUMAN

UniProt

P31644 - GBRA5_HUMAN

Protein

Gamma-aminobutyric acid receptor subunit alpha-5

Gene

GABRA5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 149 (01 Oct 2014)
      Sequence version 1 (01 Jul 1993)
      Previous versions | rss
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    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

    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.

    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

    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

    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

    ArrayExpressiP31644.
    BgeeiP31644.
    CleanExiHS_GABRA5.
    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 59-364.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini32 – 259228ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini342 – 42786CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei260 – 28122HelicalSequence AnalysisAdd
    BLAST
    Transmembranei286 – 30722HelicalSequence AnalysisAdd
    BLAST
    Transmembranei319 – 34123HelicalSequence AnalysisAdd
    BLAST
    Transmembranei428 – 44922HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG238757.
    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

    MDNGMFSGFI MIKNLLLFCI SMNLSSHFGF SQMPTSSVKD ETNDNITIFT    50
    RILDGLLDGY DNRLRPGLGE RITQVRTDIY VTSFGPVSDT EMEYTIDVFF 100
    RQSWKDERLR FKGPMQRLPL NNLLASKIWT PDTFFHNGKK SIAHNMTTPN 150
    KLLRLEDDGT LLYTMRLTIS AECPMQLEDF PMDAHACPLK FGSYAYPNSE 200
    VVYVWTNGST KSVVVAEDGS RLNQYHLMGQ TVGTENISTS TGEYTIMTAH 250
    FHLKRKIGYF VIQTYLPCIM TVILSQVSFW LNRESVPART VFGVTTVLTM 300
    TTLSISARNS LPKVAYATAM DWFIAVCYAF VFSALIEFAT VNYFTKRGWA 350
    WDGKKALEAA KIKKKREVIL NKSTNAFTTG KMSHPPNIPK EQTPAGTSNT 400
    TSVSVKPSEE KTSESKKTYN SISKIDKMSR IVFPVLFGTF NLVYWATYLN 450
    REPVIKGAAS PK 462
    Length:462
    Mass (Da):52,146
    Last modified:July 1, 1993 - v1
    Checksum:i260A8B554113AFF9
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS45194.1.
    PIRi A48933.
    RefSeqi NP_000801.1. NM_000810.3.
    NP_001158509.1. NM_001165037.1.
    XP_005268315.1. XM_005268258.1.
    XP_006720522.1. XM_006720459.1.
    UniGenei Hs.24969.

    3D structure databases

    ProteinModelPortali P31644.
    SMRi P31644. Positions 59-364.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108832. 1 interaction.
    STRINGi 9606.ENSP00000335592.

    Chemistry

    BindingDBi P31644.
    ChEMBLi CHEMBL2094122.
    DrugBanki DB00659. 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.
    GuidetoPHARMACOLOGYi 408.

    PTM databases

    PhosphoSitei P31644.

    Polymorphism databases

    DMDMi 399519.

    Proteomic databases

    MaxQBi P31644.
    PaxDbi P31644.
    PRIDEi P31644.

    Protocols and materials databases

    DNASUi 2558.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000335625 ; ENSP00000335592 ; ENSG00000186297 .
    ENST00000355395 ; ENSP00000347557 ; ENSG00000186297 .
    ENST00000400081 ; ENSP00000382953 ; ENSG00000186297 .
    GeneIDi 2558.
    KEGGi hsa:2558.
    UCSCi uc001zbd.2. human.

    Organism-specific databases

    CTDi 2558.
    GeneCardsi GC15P027112.
    GeneReviewsi GABRA5.
    HGNCi HGNC:4079. GABRA5.
    MIMi 137142. gene.
    neXtProti NX_P31644.
    PharmGKBi PA28493.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG238757.
    HOGENOMi HOG000231337.
    HOVERGENi HBG051707.
    InParanoidi P31644.
    KOi K05175.
    OMAi WTNGTTK.
    OrthoDBi EOG7JX342.
    PhylomeDBi P31644.
    TreeFami TF315453.

    Enzyme and pathway databases

    Reactomei REACT_24987. GABA A receptor activation.
    REACT_25387. Ligand-gated ion channel transport.

    Miscellaneous databases

    GeneWikii GABRA5.
    GenomeRNAii 2558.
    NextBioi 10103.
    PROi P31644.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P31644.
    Bgeei P31644.
    CleanExi HS_GABRA5.
    Genevestigatori P31644.

    Family and domain databases

    Gene3Di 2.70.170.10. 1 hit.
    InterProi IPR006028. 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 ]
    PANTHERi PTHR18945. PTHR18945. 1 hit.
    Pfami PF02931. Neur_chan_LBD. 1 hit.
    PF02932. Neur_chan_memb. 2 hits.
    [Graphical view ]
    PRINTSi PR01079. GABAARALPHA.
    PR01618. GABAARALPHA5.
    PR00253. GABAARECEPTR.
    PR00252. NRIONCHANNEL.
    SUPFAMi SSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 1 hit.
    TIGRFAMsi TIGR00860. LIC. 1 hit.
    PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 149 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