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Protein

Guanine nucleotide-binding protein subunit beta-4

Gene

GNB4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • protein-containing complex binding Source: MGI
  • signal transducer activity Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionTransducer

Enzyme and pathway databases

ReactomeiR-HSA-163359 Glucagon signaling in metabolic regulation
R-HSA-202040 G-protein activation
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-392170 ADP signalling through P2Y purinoceptor 12
R-HSA-392451 G beta:gamma signalling through PI3Kgamma
R-HSA-392851 Prostacyclin signalling through prostacyclin receptor
R-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-4086398 Ca2+ pathway
R-HSA-416476 G alpha (q) signalling events
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-418217 G beta:gamma signalling through PLC beta
R-HSA-418555 G alpha (s) signalling events
R-HSA-418592 ADP signalling through P2Y purinoceptor 1
R-HSA-418594 G alpha (i) signalling events
R-HSA-418597 G alpha (z) signalling events
R-HSA-420092 Glucagon-type ligand receptors
R-HSA-428930 Thromboxane signalling through TP receptor
R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-456926 Thrombin signalling through proteinase activated receptors (PARs)
R-HSA-500657 Presynaptic function of Kainate receptors
R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
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
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000114450.9
HGNCiHGNC:20731 GNB4
MIMi610863 gene
neXtProtiNX_Q9HAV0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615185
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06990853G → D in CMTDIF; the mutant protein has impaired bradykinin-induced G-protein-coupled receptor intracellular signaling compared to the wild-type protein. 1 PublicationCorresponds to variant dbSNP:rs387907340EnsemblClinVar.1
Natural variantiVAR_06990989K → E in CMTDIF; the mutant protein has impaired bradykinin-induced G-protein-coupled receptor intracellular signaling compared to the wild-type protein. 1 PublicationCorresponds to variant dbSNP:rs387907341EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi59345
MalaCardsiGNB4
MIMi615185 phenotype
OpenTargetsiENSG00000114450
Orphaneti352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
PharmGKBiPA134864200

Polymorphism and mutation databases

BioMutaiGNB4
DMDMi22256759

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00001277022 – 340Guanine nucleotide-binding protein subunit beta-4Add BLAST339

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserine1 Publication1
Modified residuei2PhosphoserineBy similarity1
Modified residuei266PhosphohistidineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9HAV0
MaxQBiQ9HAV0
PaxDbiQ9HAV0
PeptideAtlasiQ9HAV0
PRIDEiQ9HAV0

2D gel databases

OGPiQ9HAV0

PTM databases

iPTMnetiQ9HAV0
PhosphoSitePlusiQ9HAV0
SwissPalmiQ9HAV0

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

BgeeiENSG00000114450
CleanExiHS_GNB4
ExpressionAtlasiQ9HAV0 baseline and differential
GenevisibleiQ9HAV0 HS

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, 70 interactors
IntActiQ9HAV0, 19 interactors
STRINGi9606.ENSP00000232564

Structurei

3D structure databases

ProteinModelPortaliQ9HAV0
SMRiQ9HAV0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati53 – 92WD 1Add BLAST40
Repeati95 – 134WD 2Add BLAST40
Repeati141 – 179WD 3Add BLAST39
Repeati182 – 221WD 4Add BLAST40
Repeati224 – 263WD 5Add BLAST40
Repeati268 – 307WD 6Add BLAST40
Repeati310 – 339WD 7Add BLAST30

Sequence similaritiesi

Belongs to the WD repeat G protein beta family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0286 Eukaryota
ENOG410XQUX LUCA
GeneTreeiENSGT00760000119239
HOGENOMiHOG000176356
HOVERGENiHBG000188
InParanoidiQ9HAV0
KOiK04538
OMAiDYKTFVS
OrthoDBiEOG091G0A7T
PhylomeDBiQ9HAV0
TreeFamiTF106149

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR001632 Gprotein_B
IPR016346 Guanine_nucleotide-bd_bsu
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR19850 PTHR19850, 1 hit
PfamiView protein in Pfam
PF00400 WD40, 7 hits
PRINTSiPR00319 GPROTEINB
PR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00320 WD40, 7 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 3 hits
PS50082 WD_REPEATS_2, 6 hits
PS50294 WD_REPEATS_REGION, 1 hit

Sequencei

Sequence statusi: Complete.

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

Q9HAV0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSELEQLRQE AEQLRNQIQD ARKACNDATL VQITSNMDSV GRIQMRTRRT
60 70 80 90 100
LRGHLAKIYA MHWGYDSRLL VSASQDGKLI IWDSYTTNKM HAIPLRSSWV
110 120 130 140 150
MTCAYAPSGN YVACGGLDNI CSIYNLKTRE GNVRVSRELP GHTGYLSCCR
160 170 180 190 200
FLDDSQIVTS SGDTTCALWD IETAQQTTTF TGHSGDVMSL SLSPDMRTFV
210 220 230 240 250
SGACDASSKL WDIRDGMCRQ SFTGHVSDIN AVSFFPNGYA FATGSDDATC
260 270 280 290 300
RLFDLRADQE LLLYSHDNII CGITSVAFSK SGRLLLAGYD DFNCNVWDTL
310 320 330 340
KGDRAGVLAG HDNRVSCLGV TDDGMAVATG SWDSFLRIWN
Length:340
Mass (Da):37,567
Last modified:January 23, 2007 - v3
Checksum:iEDF085155A1EDC89
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06990853G → D in CMTDIF; the mutant protein has impaired bradykinin-induced G-protein-coupled receptor intracellular signaling compared to the wild-type protein. 1 PublicationCorresponds to variant dbSNP:rs387907340EnsemblClinVar.1
Natural variantiVAR_06990989K → E in CMTDIF; the mutant protein has impaired bradykinin-induced G-protein-coupled receptor intracellular signaling compared to the wild-type protein. 1 PublicationCorresponds to variant dbSNP:rs387907341EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005247692.2
XP_006713784.1, XM_006713721.2
UniGeneiHs.173030

Genome annotation databases

EnsembliENST00000232564; ENSP00000232564; ENSG00000114450
ENST00000468623; ENSP00000419693; ENSG00000114450
GeneIDi59345
KEGGihsa:59345
UCSCiuc003fjv.5 human

Entry informationi

Entry nameiGBB4_HUMAN
AccessioniPrimary (citable) accession number: Q9HAV0
Secondary accession number(s): B3KMH5, D3DNR8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 2002
Last sequence update: January 23, 2007
Last modified: May 23, 2018
This is version 160 of the entry and version 3 of the sequence. See 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

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