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P48169

- GBRA4_HUMAN

UniProt

P48169 - GBRA4_HUMAN

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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

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

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini36 – 258223Extracellular Inferred
Add
BLAST
Transmembranei259 – 28022Helical; Inferred
Add
BLAST
Transmembranei285 – 30622Helical; Inferred
Add
BLAST
Transmembranei318 – 34023Helical; Inferred
Add
BLAST
Topological domaini341 – 523183Cytoplasmic Inferred
Add
BLAST
Transmembranei524 – 54320Helical; Inferred
Add
BLAST

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
Complete GO annotation...

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 – 3535 Reviewed prediction
Add
BLAST
Chaini36 – 554519Gamma-aminobutyric acid receptor subunit alpha-4
PRO_0000000441Add
BLAST

Amino acid modifications

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

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti316 – 3161A → L in AAB52519. 1 Publication
Sequence conflicti379 – 3791N → D in AAB52519. 1 Publication
Sequence conflicti463 – 4631Y → H in AAB52519. 1 Publication

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 DB00404. Alprazolam.
DB00189. Ethchlorvynol.
DB01544. Flunitrazepam.
DB00690. Flurazepam.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB00683. Midazolam.
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 141 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

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