Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P48169

- GBRA4_HUMAN

UniProt

P48169 - GBRA4_HUMAN

Protein

Gamma-aminobutyric acid receptor subunit alpha-4

Gene

GABRA4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 142 (01 Oct 2014)
      Sequence version 2 (23 Sep 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

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

    GO - Biological processi

    1. central nervous system development Source: Ensembl
    2. gamma-aminobutyric acid signaling pathway Source: ProtInc
    3. ion transmembrane transport Source: Reactome
    4. regulation of response to drug Source: Ensembl
    5. synaptic transmission Source: Reactome
    6. transmembrane transport Source: Reactome
    7. 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-4
    Alternative name(s):
    GABA(A) receptor subunit alpha-4
    Gene namesi
    Name:GABRA4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:4078. GABRA4.

    Subcellular locationi

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. chloride channel complex Source: UniProtKB-KW
    3. integral component of plasma membrane Source: ProtInc
    4. plasma membrane Source: Reactome
    5. postsynaptic membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28492.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3535Sequence AnalysisAdd
    BLAST
    Chaini36 – 554519Gamma-aminobutyric acid receptor subunit alpha-4PRO_0000000441Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi47 – 471N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi144 – 1441N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi157 – 1571N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi172 ↔ 186By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP48169.
    PRIDEiP48169.

    PTM databases

    PhosphoSiteiP48169.

    Expressioni

    Inductioni

    The alpha4 beta2 gamma 2L receptor is not repressed by diazepam.1 Publication

    Gene expression databases

    ArrayExpressiP48169.
    BgeeiP48169.
    CleanExiHS_GABRA4.
    GenevestigatoriP48169.

    Organism-specific databases

    HPAiHPA057756.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi108831. 3 interactions.
    IntActiP48169. 1 interaction.
    STRINGi9606.ENSP00000264318.

    Structurei

    3D structure databases

    ProteinModelPortaliP48169.
    SMRiP48169. Positions 49-345.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini36 – 258223ExtracellularCuratedAdd
    BLAST
    Topological domaini341 – 523183CytoplasmicCuratedAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei259 – 28022HelicalCuratedAdd
    BLAST
    Transmembranei285 – 30622HelicalCuratedAdd
    BLAST
    Transmembranei318 – 34023HelicalCuratedAdd
    BLAST
    Transmembranei524 – 54320HelicalCuratedAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG238757.
    HOGENOMiHOG000231337.
    HOVERGENiHBG051707.
    InParanoidiP48169.
    KOiK05175.
    OMAiPNPFSHA.
    OrthoDBiEOG7JX342.
    PhylomeDBiP48169.
    TreeFamiTF315453.

    Family and domain databases

    Gene3Di2.70.170.10. 1 hit.
    InterProiIPR006028. GABAA/Glycine_rcpt.
    IPR001390. GABAAa_rcpt.
    IPR005434. GABBAa4_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. 1 hit.
    [Graphical view]
    PRINTSiPR01079. GABAARALPHA.
    PR01617. GABAARALPHA4.
    PR00253. GABAARECEPTR.
    PR00252. NRIONCHANNEL.
    SUPFAMiSSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 2 hits.
    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.

    P48169-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVSAKKVPAI ALSAGVSFAL LRFLCLAVCL NESPGQNQKE EKLCTENFTR    50
    ILDSLLDGYD NRLRPGFGGP VTEVKTDIYV TSFGPVSDVE MEYTMDVFFR 100
    QTWIDKRLKY DGPIEILRLN NMMVTKVWTP DTFFRNGKKS VSHNMTAPNK 150
    LFRIMRNGTI LYTMRLTISA ECPMRLVDFP MDGHACPLKF GSYAYPKSEM 200
    IYTWTKGPEK SVEVPKESSS LVQYDLIGQT VSSETIKSIT GEYIVMTVYF 250
    HLRRKMGYFM IQTYIPCIMT VILSQVSFWI NKESVPARTV FGITTVLTMT 300
    TLSISARHSL PKVSYATAMD WFIAVCFAFV FSALIEFAAV NYFTNIQMEK 350
    AKRKTSKPPQ EVPAAPVQRE KHPEAPLQNT NANLNMRKRT NALVHSESDV 400
    GNRTEVGNHS SKSSTVVQES SKGTPRSYLA SSPNPFSRAN AAETISAARA 450
    LPSASPTSIR TGYMPRKASV GSASTRHVFG SRLQRIKTTV NTIGATGKLS 500
    ATPPPSAPPP SGSGTSKIDK YARILFPVTF GAFNMVYWVV YLSKDTMEKS 550
    ESLM 554
    Length:554
    Mass (Da):61,623
    Last modified:September 23, 2008 - v2
    Checksum:iB159F9934FB02390
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti316 – 3161A → L in AAB52519. (PubMed:8719416)Curated
    Sequence conflicti379 – 3791N → D in AAB52519. (PubMed:8719416)Curated
    Sequence conflicti463 – 4631Y → H in AAB52519. (PubMed:8719416)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 191A → T.
    Corresponds to variant rs16859837 [ dbSNP | Ensembl ].
    VAR_046552
    Natural varianti26 – 261L → M.
    Corresponds to variant rs2229940 [ dbSNP | Ensembl ].
    VAR_046553
    Natural varianti516 – 5161S → R in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036032

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U30461 mRNA. Translation: AAB52519.1.
    AK090780 mRNA. Translation: BAG52228.1.
    AC107383 Genomic DNA. No translation available.
    CH471069 Genomic DNA. Translation: EAW93029.1.
    BC035055 mRNA. Translation: AAH35055.1.
    U20166 Genomic DNA. Translation: AAA74743.1.
    CCDSiCCDS3473.1.
    PIRiG01928.
    RefSeqiNP_000800.2. NM_000809.3.
    NP_001191195.1. NM_001204266.1.
    NP_001191196.1. NM_001204267.1.
    UniGeneiHs.248112.

    Genome annotation databases

    EnsembliENST00000264318; ENSP00000264318; ENSG00000109158.
    GeneIDi2557.
    KEGGihsa:2557.
    UCSCiuc003gxg.3. human.

    Polymorphism databases

    DMDMi206729865.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Protein Spotlight

    Forbidden fruit - Issue 56 of March 2005

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U30461 mRNA. Translation: AAB52519.1 .
    AK090780 mRNA. Translation: BAG52228.1 .
    AC107383 Genomic DNA. No translation available.
    CH471069 Genomic DNA. Translation: EAW93029.1 .
    BC035055 mRNA. Translation: AAH35055.1 .
    U20166 Genomic DNA. Translation: AAA74743.1 .
    CCDSi CCDS3473.1.
    PIRi G01928.
    RefSeqi NP_000800.2. NM_000809.3.
    NP_001191195.1. NM_001204266.1.
    NP_001191196.1. NM_001204267.1.
    UniGenei Hs.248112.

    3D structure databases

    ProteinModelPortali P48169.
    SMRi P48169. Positions 49-345.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108831. 3 interactions.
    IntActi P48169. 1 interaction.
    STRINGi 9606.ENSP00000264318.

    Chemistry

    BindingDBi P48169.
    ChEMBLi CHEMBL2093872.
    DrugBanki DB00659. Acamprosate.
    DB00404. Alprazolam.
    DB01351. Amobarbital.
    DB00543. Amoxapine.
    DB01352. Aprobarbital.
    DB01558. Bromazepam.
    DB00237. Butabarbital.
    DB00241. Butalbital.
    DB01353. Butethal.
    DB00475. Chlordiazepoxide.
    DB00349. Clobazam.
    DB01068. Clonazepam.
    DB00628. Clorazepate.
    DB01189. Desflurane.
    DB00829. Diazepam.
    DB00228. Enflurane.
    DB01049. Ergoloid mesylate.
    DB01215. Estazolam.
    DB00402. Eszopiclone.
    DB00189. Ethchlorvynol.
    DB00292. Etomidate.
    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.
    GuidetoPHARMACOLOGYi 407.

    PTM databases

    PhosphoSitei P48169.

    Polymorphism databases

    DMDMi 206729865.

    Proteomic databases

    PaxDbi P48169.
    PRIDEi P48169.

    Protocols and materials databases

    DNASUi 2557.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264318 ; ENSP00000264318 ; ENSG00000109158 .
    GeneIDi 2557.
    KEGGi hsa:2557.
    UCSCi uc003gxg.3. human.

    Organism-specific databases

    CTDi 2557.
    GeneCardsi GC04M046836.
    HGNCi HGNC:4078. GABRA4.
    HPAi HPA057756.
    MIMi 137141. gene.
    neXtProti NX_P48169.
    PharmGKBi PA28492.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG238757.
    HOGENOMi HOG000231337.
    HOVERGENi HBG051707.
    InParanoidi P48169.
    KOi K05175.
    OMAi PNPFSHA.
    OrthoDBi EOG7JX342.
    PhylomeDBi P48169.
    TreeFami TF315453.

    Enzyme and pathway databases

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

    Miscellaneous databases

    GeneWikii GABRA4.
    GenomeRNAii 2557.
    NextBioi 10099.
    PROi P48169.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P48169.
    Bgeei P48169.
    CleanExi HS_GABRA4.
    Genevestigatori P48169.

    Family and domain databases

    Gene3Di 2.70.170.10. 1 hit.
    InterProi IPR006028. GABAA/Glycine_rcpt.
    IPR001390. GABAAa_rcpt.
    IPR005434. GABBAa4_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. 1 hit.
    [Graphical view ]
    PRINTSi PR01079. GABAARALPHA.
    PR01617. GABAARALPHA4.
    PR00253. GABAARECEPTR.
    PR00252. NRIONCHANNEL.
    SUPFAMi SSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 2 hits.
    TIGRFAMsi TIGR00860. LIC. 1 hit.
    PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of the human GABAA receptor alpha 4 subunit: identification of a unique diazepam-insensitive binding site."
      Yang W., Drewe J.A., Lan N.C.
      Eur. J. Pharmacol. 291:319-325(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], INDUCTION.
      Tissue: Brain cortex.
    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.
      , 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].
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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. "Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha 2-alpha 4-beta 1-gamma 1 gene cluster: further evidence that modern GABAA receptor gene clusters are derived from an ancestral cluster."
      McLean P.J., Farb D.H., Russek S.J.
      Genomics 26:580-586(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-57.
    7. Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-516.

    Entry informationi

    Entry nameiGBRA4_HUMAN
    AccessioniPrimary (citable) accession number: P48169
    Secondary accession number(s): Q8IYR7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: September 23, 2008
    Last modified: October 1, 2014
    This is version 142 of the entry and version 2 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 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3