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Q9HAV0

- GBB4_HUMAN

UniProt

Q9HAV0 - GBB4_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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. 11 interactions.
MINTiMINT-1135986.
STRINGi9606.ENSP00000232564.

Structurei

3D structure databases

ProteinModelPortaliQ9HAV0.
SMRiQ9HAV0. Positions 1-340.

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

Contains 7 WD repeats.

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. 11 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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 128 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

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