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Q9HAV0

- GBB4_HUMAN

UniProt

Q9HAV0 - GBB4_HUMAN

Protein

Guanine nucleotide-binding protein subunit beta-4

Gene

GNB4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

    GO - Molecular functioni

    1. protein complex binding Source: MGI
    2. signal transducer activity Source: UniProtKB-KW

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. cellular response to glucagon stimulus Source: Reactome
    3. energy reserve metabolic process Source: Reactome
    4. small molecule metabolic process Source: Reactome
    5. substantia nigra development Source: UniProt

    Keywords - Molecular functioni

    Transducer

    Enzyme and pathway databases

    ReactomeiREACT_15457. G-protein activation.
    REACT_1665. Glucagon signaling in metabolic regulation.
    REACT_172761. Ca2+ pathway.
    REACT_18274. Glucagon-like Peptide-1 (GLP1) regulates insulin secretion.
    REACT_18283. G alpha (q) signalling events.
    REACT_18339. Adrenaline,noradrenaline inhibits insulin secretion.
    REACT_18377. Glucagon-type ligand receptors.
    REACT_18407. G alpha (12/13) signalling events.
    REACT_19140. ADP signalling through P2Y purinoceptor 1.
    REACT_19145. G beta:gamma signalling through PLC beta.
    REACT_19231. G alpha (i) signalling events.
    REACT_19290. G beta:gamma signalling through PI3Kgamma.
    REACT_19327. G alpha (s) signalling events.
    REACT_19333. G alpha (z) signalling events.
    REACT_20647. Thromboxane signalling through TP receptor.
    REACT_20653. ADP signalling through P2Y purinoceptor 12.
    REACT_21254. Presynaptic function of Kainate receptors.
    REACT_21384. Thrombin signalling through proteinase activated receptors (PARs).
    REACT_23946. Prostacyclin signalling through prostacyclin receptor.
    REACT_24023. Regulation of water balance by renal Aquaporins.
    SignaLinkiQ9HAV0.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Guanine nucleotide-binding protein subunit beta-4
    Alternative name(s):
    Transducin beta chain 4
    Gene namesi
    Name:GNB4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:20731. GNB4.

    Subcellular locationi

    GO - Cellular componenti

    1. lysosomal membrane Source: UniProtKB
    2. plasma membrane Source: Reactome

    Pathology & Biotechi

    Involvement in diseasei

    Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) [MIM:615185]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIF is characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti53 – 531G → D in CMTDIF; the mutant protein has impaired bradykinin-induced G-protein-coupled receptor intracellular signaling compared to the wild-type protein. 1 Publication
    VAR_069908
    Natural varianti89 – 891K → E in CMTDIF; the mutant protein has impaired bradykinin-induced G-protein-coupled receptor intracellular signaling compared to the wild-type protein. 1 Publication
    VAR_069909

    Keywords - Diseasei

    Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

    Organism-specific databases

    MIMi615185. phenotype.
    Orphaneti352670. Autosomal dominant intermediate Charcot-Marie-Tooth disease type F.
    PharmGKBiPA134864200.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 340339Guanine nucleotide-binding protein subunit beta-4PRO_0000127702Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylserine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9HAV0.
    PeptideAtlasiQ9HAV0.
    PRIDEiQ9HAV0.

    2D gel databases

    OGPiQ9HAV0.

    PTM databases

    PhosphoSiteiQ9HAV0.

    Expressioni

    Tissue specificityi

    Strongly expressed in lung and placenta, whereas it is weakly expressed in brain and heart. Abundantly expressed in the axons and Schwann cells of peripheral nerves.2 Publications

    Gene expression databases

    ArrayExpressiQ9HAV0.
    BgeeiQ9HAV0.
    CleanExiHS_GNB4.
    GenevestigatoriQ9HAV0.

    Organism-specific databases

    HPAiCAB018383.
    CAB018737.
    HPA040736.

    Interactioni

    Subunit structurei

    G proteins are composed of 3 units, alpha, beta and gamma.

    Protein-protein interaction databases

    BioGridi121887. 31 interactions.
    IntActiQ9HAV0. 16 interactions.
    MINTiMINT-1135986.
    STRINGi9606.ENSP00000232564.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HAV0.
    SMRiQ9HAV0. Positions 1-340.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati53 – 9240WD 1Add
    BLAST
    Repeati95 – 13440WD 2Add
    BLAST
    Repeati141 – 17939WD 3Add
    BLAST
    Repeati182 – 22140WD 4Add
    BLAST
    Repeati224 – 26340WD 5Add
    BLAST
    Repeati268 – 30740WD 6Add
    BLAST
    Repeati310 – 33930WD 7Add
    BLAST

    Sequence similaritiesi

    Belongs to the WD repeat G protein beta family.Curated
    Contains 7 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    HOGENOMiHOG000176356.
    HOVERGENiHBG000188.
    InParanoidiQ9HAV0.
    KOiK04538.
    OMAiATSFTGH.
    OrthoDBiEOG7GN2N5.
    PhylomeDBiQ9HAV0.
    TreeFamiTF106149.

    Family and domain databases

    Gene3Di2.130.10.10. 1 hit.
    InterProiIPR020472. G-protein_beta_WD-40_rep.
    IPR001632. Gprotein_B.
    IPR016346. Guanine_nucleotide-bd_bsu.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF00400. WD40. 7 hits.
    [Graphical view]
    PIRSFiPIRSF002394. GN-bd_beta. 1 hit.
    PRINTSiPR00319. GPROTEINB.
    PR00320. GPROTEINBRPT.
    SMARTiSM00320. WD40. 7 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 1 hit.
    PROSITEiPS00678. WD_REPEATS_1. 3 hits.
    PS50082. WD_REPEATS_2. 6 hits.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q9HAV0-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSELEQLRQE AEQLRNQIQD ARKACNDATL VQITSNMDSV GRIQMRTRRT    50
    LRGHLAKIYA MHWGYDSRLL VSASQDGKLI IWDSYTTNKM HAIPLRSSWV 100
    MTCAYAPSGN YVACGGLDNI CSIYNLKTRE GNVRVSRELP GHTGYLSCCR 150
    FLDDSQIVTS SGDTTCALWD IETAQQTTTF TGHSGDVMSL SLSPDMRTFV 200
    SGACDASSKL WDIRDGMCRQ SFTGHVSDIN AVSFFPNGYA FATGSDDATC 250
    RLFDLRADQE LLLYSHDNII CGITSVAFSK SGRLLLAGYD DFNCNVWDTL 300
    KGDRAGVLAG HDNRVSCLGV TDDGMAVATG SWDSFLRIWN 340
    Length:340
    Mass (Da):37,567
    Last modified:January 23, 2007 - v3
    Checksum:iEDF085155A1EDC89
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti53 – 531G → D in CMTDIF; the mutant protein has impaired bradykinin-induced G-protein-coupled receptor intracellular signaling compared to the wild-type protein. 1 Publication
    VAR_069908
    Natural varianti89 – 891K → E in CMTDIF; the mutant protein has impaired bradykinin-induced G-protein-coupled receptor intracellular signaling compared to the wild-type protein. 1 Publication
    VAR_069909

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF300648 mRNA. Translation: AAG18442.1.
    AK001890 mRNA. Translation: BAG50987.1.
    CH471052 Genomic DNA. Translation: EAW78403.1.
    CH471052 Genomic DNA. Translation: EAW78404.1.
    BC000873 mRNA. Translation: AAH00873.1.
    CCDSiCCDS3230.1.
    RefSeqiNP_067642.1. NM_021629.3.
    XP_005247749.1. XM_005247692.1.
    XP_006713784.1. XM_006713721.1.
    UniGeneiHs.173030.

    Genome annotation databases

    EnsembliENST00000232564; ENSP00000232564; ENSG00000114450.
    ENST00000468623; ENSP00000419693; ENSG00000114450.
    GeneIDi59345.
    KEGGihsa:59345.
    UCSCiuc003fjv.4. human.

    Polymorphism databases

    DMDMi22256759.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF300648 mRNA. Translation: AAG18442.1 .
    AK001890 mRNA. Translation: BAG50987.1 .
    CH471052 Genomic DNA. Translation: EAW78403.1 .
    CH471052 Genomic DNA. Translation: EAW78404.1 .
    BC000873 mRNA. Translation: AAH00873.1 .
    CCDSi CCDS3230.1.
    RefSeqi NP_067642.1. NM_021629.3.
    XP_005247749.1. XM_005247692.1.
    XP_006713784.1. XM_006713721.1.
    UniGenei Hs.173030.

    3D structure databases

    ProteinModelPortali Q9HAV0.
    SMRi Q9HAV0. Positions 1-340.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121887. 31 interactions.
    IntActi Q9HAV0. 16 interactions.
    MINTi MINT-1135986.
    STRINGi 9606.ENSP00000232564.

    PTM databases

    PhosphoSitei Q9HAV0.

    Polymorphism databases

    DMDMi 22256759.

    2D gel databases

    OGPi Q9HAV0.

    Proteomic databases

    MaxQBi Q9HAV0.
    PeptideAtlasi Q9HAV0.
    PRIDEi Q9HAV0.

    Protocols and materials databases

    DNASUi 59345.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000232564 ; ENSP00000232564 ; ENSG00000114450 .
    ENST00000468623 ; ENSP00000419693 ; ENSG00000114450 .
    GeneIDi 59345.
    KEGGi hsa:59345.
    UCSCi uc003fjv.4. human.

    Organism-specific databases

    CTDi 59345.
    GeneCardsi GC03M179113.
    HGNCi HGNC:20731. GNB4.
    HPAi CAB018383.
    CAB018737.
    HPA040736.
    MIMi 610863. gene.
    615185. phenotype.
    neXtProti NX_Q9HAV0.
    Orphaneti 352670. Autosomal dominant intermediate Charcot-Marie-Tooth disease type F.
    PharmGKBi PA134864200.
    GenAtlasi Search...

    Phylogenomic databases

    HOGENOMi HOG000176356.
    HOVERGENi HBG000188.
    InParanoidi Q9HAV0.
    KOi K04538.
    OMAi ATSFTGH.
    OrthoDBi EOG7GN2N5.
    PhylomeDBi Q9HAV0.
    TreeFami TF106149.

    Enzyme and pathway databases

    Reactomei REACT_15457. G-protein activation.
    REACT_1665. Glucagon signaling in metabolic regulation.
    REACT_172761. Ca2+ pathway.
    REACT_18274. Glucagon-like Peptide-1 (GLP1) regulates insulin secretion.
    REACT_18283. G alpha (q) signalling events.
    REACT_18339. Adrenaline,noradrenaline inhibits insulin secretion.
    REACT_18377. Glucagon-type ligand receptors.
    REACT_18407. G alpha (12/13) signalling events.
    REACT_19140. ADP signalling through P2Y purinoceptor 1.
    REACT_19145. G beta:gamma signalling through PLC beta.
    REACT_19231. G alpha (i) signalling events.
    REACT_19290. G beta:gamma signalling through PI3Kgamma.
    REACT_19327. G alpha (s) signalling events.
    REACT_19333. G alpha (z) signalling events.
    REACT_20647. Thromboxane signalling through TP receptor.
    REACT_20653. ADP signalling through P2Y purinoceptor 12.
    REACT_21254. Presynaptic function of Kainate receptors.
    REACT_21384. Thrombin signalling through proteinase activated receptors (PARs).
    REACT_23946. Prostacyclin signalling through prostacyclin receptor.
    REACT_24023. Regulation of water balance by renal Aquaporins.
    SignaLinki Q9HAV0.

    Miscellaneous databases

    GeneWikii GNB4.
    GenomeRNAii 59345.
    NextBioi 65246.
    PROi Q9HAV0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9HAV0.
    Bgeei Q9HAV0.
    CleanExi HS_GNB4.
    Genevestigatori Q9HAV0.

    Family and domain databases

    Gene3Di 2.130.10.10. 1 hit.
    InterProi IPR020472. G-protein_beta_WD-40_rep.
    IPR001632. Gprotein_B.
    IPR016346. Guanine_nucleotide-bd_bsu.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF00400. WD40. 7 hits.
    [Graphical view ]
    PIRSFi PIRSF002394. GN-bd_beta. 1 hit.
    PRINTSi PR00319. GPROTEINB.
    PR00320. GPROTEINBRPT.
    SMARTi SM00320. WD40. 7 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 1 hit.
    PROSITEi PS00678. WD_REPEATS_1. 3 hits.
    PS50082. WD_REPEATS_2. 6 hits.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning, tissue distribution, and functional expression of the human G protein beta 4-subunit."
      Ruiz-Velasco V., Ikeda S.R., Puhl H.L. III
      Physiol. Genomics 8:41-50(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Brain.
    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].
      Tissue: Placenta.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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: Cervix.
    5. Bienvenut W.V., Quadroni M.
      Submitted (JUL-2005) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 2-15 AND 58-78, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Melanoma.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. "Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease."
      Soong B.W., Huang Y.H., Tsai P.C., Huang C.C., Pan H.C., Lu Y.C., Chien H.J., Liu T.T., Chang M.H., Lin K.P., Tu P.H., Kao L.S., Lee Y.C.
      Am. J. Hum. Genet. 92:422-430(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, VARIANTS CMTDIF ASP-53 AND GLU-89, CHARACTERIZATION OF VARIANTS CMTDIF ASP-53 AND GLU-89.

    Entry informationi

    Entry nameiGBB4_HUMAN
    AccessioniPrimary (citable) accession number: Q9HAV0
    Secondary accession number(s): B3KMH5, D3DNR8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 13, 2002
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 129 of the entry and version 3 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3