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Protein

Guanine nucleotide-binding protein subunit beta-5

Gene

GNB5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (Probable). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D2 dopamine receptors (PubMed:27677260). May play an important role in neuronal signaling, including in the parasympathetic, but not sympathetic, control of heart rate (By similarity).By similarityCurated1 Publication

GO - Molecular functioni

  • chaperone binding Source: UniProtKB
  • G-protein gamma-subunit binding Source: UniProtKB
  • GTPase activator activity Source: UniProtKB
  • GTPase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionTransducer

Enzyme and pathway databases

ReactomeiR-HSA-202040 G-protein activation
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
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
SignaLinkiO14775

Names & Taxonomyi

Protein namesi
Recommended name:
Guanine nucleotide-binding protein subunit beta-5
Alternative name(s):
Gbeta5
Transducin beta chain 5
Gene namesi
Name:GNB5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000069966.18
HGNCiHGNC:4401 GNB5
MIMi604447 gene
neXtProtiNX_O14775

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Intellectual developmental disorder with cardiac arrhythmia (IDDCA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux.
See also OMIM:617173
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia (LADCI)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurodevelopmental disorder characterized by speech impairment and variable expressivity of attention deficit hyperactivity disorder. Some patients manifest developmental and motor delay, hypotonia, and sinus-node dysfunction.
See also OMIM:617182
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077994123S → L in LADCI; severe, but incomplete loss of activation of RGS9 GTPase activator activity, affecting the deactivation of D(2) dopamine receptor-mediated signaling; decreased stability; decreased RGS9 stabilization. 2 PublicationsCorresponds to variant dbSNP:rs761399728Ensembl.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi10681
MalaCardsiGNB5
MIMi617173 phenotype
617182 phenotype
OpenTargetsiENSG00000069966
PharmGKBiPA28780

Polymorphism and mutation databases

BioMutaiGNB5

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001277051 – 395Guanine nucleotide-binding protein subunit beta-5Add BLAST395

Proteomic databases

EPDiO14775
MaxQBiO14775
PaxDbiO14775
PeptideAtlasiO14775
PRIDEiO14775
ProteomicsDBi48226
48227 [O14775-2]
48228 [O14775-3]

PTM databases

iPTMnetiO14775
PhosphoSitePlusiO14775

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000069966 Expressed in 220 organ(s), highest expression level in middle temporal gyrus
CleanExiHS_GNB5
ExpressionAtlasiO14775 baseline and differential
GenevisibleiO14775 HS

Organism-specific databases

HPAiCAB032353
HPA041942
HPA044198

Interactioni

Subunit structurei

Component of a complex composed of RGS9 (isoform RGS9-1), GNB5 and RGS9BP; within this complex, the presence of GNB5 stabilizes both itself and RGS9 and increases RGS9 GTPase-activating protein (GAP) activity (By similarity) (PubMed:27677260). Interacts with RGS6 and RGS7 (PubMed:10339615, PubMed:10521509).By similarity3 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115920, 38 interactors
IntActiO14775, 27 interactors
MINTiO14775
STRINGi9606.ENSP00000261837

Structurei

3D structure databases

ProteinModelPortaliO14775
SMRiO14775
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati103 – 142WD 1Add BLAST40
Repeati145 – 184WD 2Add BLAST40
Repeati193 – 234WD 3Add BLAST42
Repeati236 – 278WD 4Add BLAST43
Repeati279 – 318WD 5Add BLAST40
Repeati320 – 362WD 6Add BLAST43
Repeati365 – 394WD 7Add BLAST30

Sequence similaritiesi

Belongs to the WD repeat G protein beta family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IU55 Eukaryota
ENOG410YDDC LUCA
GeneTreeiENSGT00760000119239
HOGENOMiHOG000176356
HOVERGENiHBG000188
InParanoidiO14775
KOiK04539
OMAiNVFGSCD
OrthoDBiEOG091G0A7T
PhylomeDBiO14775
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, 5 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

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14775-1) [UniParc]FASTAAdd to basket
Also known as: Long, Beta-5L

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MCDQTFLVNV FGSCDKCFKQ RALRPVFKKS QQLSYCSTCA EIMATEGLHE
60 70 80 90 100
NETLASLKSE AESLKGKLEE ERAKLHDVEL HQVAERVEAL GQFVMKTRRT
110 120 130 140 150
LKGHGNKVLC MDWCKDKRRI VSSSQDGKVI VWDSFTTNKE HAVTMPCTWV
160 170 180 190 200
MACAYAPSGC AIACGGLDNK CSVYPLTFDK NENMAAKKKS VAMHTNYLSA
210 220 230 240 250
CSFTNSDMQI LTASGDGTCA LWDVESGQLL QSFHGHGADV LCLDLAPSET
260 270 280 290 300
GNTFVSGGCD KKAMVWDMRS GQCVQAFETH ESDINSVRYY PSGDAFASGS
310 320 330 340 350
DDATCRLYDL RADREVAIYS KESIIFGASS VDFSLSGRLL FAGYNDYTIN
360 370 380 390
VWDVLKGSRV SILFGHENRV STLRVSPDGT AFCSGSWDHT LRVWA
Length:395
Mass (Da):43,566
Last modified:October 31, 2003 - v2
Checksum:iE001B07FCFA587AD
GO
Isoform 2 (identifier: O14775-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: Missing.

Show »
Length:353
Mass (Da):38,760
Checksum:i982B08C9F2B9976B
GO
Isoform 3 (identifier: O14775-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: Missing.
     140-209: Missing.

Show »
Length:283
Mass (Da):31,247
Checksum:iBC7C4F15B805825B
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YNW7H0YNW7_HUMAN
Guanine nucleotide-binding protein ...
GNB5
100Annotation score:
Q96F32Q96F32_HUMAN
GNB5 protein
GNB5
126Annotation score:
H0YLU1H0YLU1_HUMAN
Guanine nucleotide-binding protein ...
GNB5
103Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti223D → G in BAG37312 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077994123S → L in LADCI; severe, but incomplete loss of activation of RGS9 GTPase activator activity, affecting the deactivation of D(2) dopamine receptor-mediated signaling; decreased stability; decreased RGS9 stabilization. 2 PublicationsCorresponds to variant dbSNP:rs761399728Ensembl.1
Natural variantiVAR_049270213A → V. Corresponds to variant dbSNP:rs34637551Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0087651 – 42Missing in isoform 2 and isoform 3. 5 PublicationsAdd BLAST42
Alternative sequenceiVSP_039101140 – 209Missing in isoform 3. 1 PublicationAdd BLAST70

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF017656 mRNA Translation: AAC63826.1
AL117471 mRNA Translation: CAB55946.1
AF501885 mRNA Translation: AAM15921.1
AF300650 mRNA Translation: AAG18444.1
AK314775 mRNA Translation: BAG37312.1
BC013997 mRNA Translation: AAH13997.1
CCDSiCCDS10149.1 [O14775-1]
CCDS45261.1 [O14775-2]
PIRiT17256
RefSeqiNP_006569.1, NM_006578.3 [O14775-2]
NP_057278.2, NM_016194.3 [O14775-1]
UniGeneiHs.155090

Genome annotation databases

EnsembliENST00000261837; ENSP00000261837; ENSG00000069966 [O14775-1]
ENST00000358784; ENSP00000351635; ENSG00000069966 [O14775-2]
ENST00000396335; ENSP00000379626; ENSG00000069966 [O14775-3]
GeneIDi10681
KEGGihsa:10681
UCSCiuc002abr.2 human [O14775-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF017656 mRNA Translation: AAC63826.1
AL117471 mRNA Translation: CAB55946.1
AF501885 mRNA Translation: AAM15921.1
AF300650 mRNA Translation: AAG18444.1
AK314775 mRNA Translation: BAG37312.1
BC013997 mRNA Translation: AAH13997.1
CCDSiCCDS10149.1 [O14775-1]
CCDS45261.1 [O14775-2]
PIRiT17256
RefSeqiNP_006569.1, NM_006578.3 [O14775-2]
NP_057278.2, NM_016194.3 [O14775-1]
UniGeneiHs.155090

3D structure databases

ProteinModelPortaliO14775
SMRiO14775
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115920, 38 interactors
IntActiO14775, 27 interactors
MINTiO14775
STRINGi9606.ENSP00000261837

PTM databases

iPTMnetiO14775
PhosphoSitePlusiO14775

Polymorphism and mutation databases

BioMutaiGNB5

Proteomic databases

EPDiO14775
MaxQBiO14775
PaxDbiO14775
PeptideAtlasiO14775
PRIDEiO14775
ProteomicsDBi48226
48227 [O14775-2]
48228 [O14775-3]

Protocols and materials databases

DNASUi10681
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261837; ENSP00000261837; ENSG00000069966 [O14775-1]
ENST00000358784; ENSP00000351635; ENSG00000069966 [O14775-2]
ENST00000396335; ENSP00000379626; ENSG00000069966 [O14775-3]
GeneIDi10681
KEGGihsa:10681
UCSCiuc002abr.2 human [O14775-1]

Organism-specific databases

CTDi10681
DisGeNETi10681
EuPathDBiHostDB:ENSG00000069966.18
GeneCardsiGNB5
HGNCiHGNC:4401 GNB5
HPAiCAB032353
HPA041942
HPA044198
MalaCardsiGNB5
MIMi604447 gene
617173 phenotype
617182 phenotype
neXtProtiNX_O14775
OpenTargetsiENSG00000069966
PharmGKBiPA28780
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IU55 Eukaryota
ENOG410YDDC LUCA
GeneTreeiENSGT00760000119239
HOGENOMiHOG000176356
HOVERGENiHBG000188
InParanoidiO14775
KOiK04539
OMAiNVFGSCD
OrthoDBiEOG091G0A7T
PhylomeDBiO14775
TreeFamiTF106149

Enzyme and pathway databases

ReactomeiR-HSA-202040 G-protein activation
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
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
SignaLinkiO14775

Miscellaneous databases

ChiTaRSiGNB5 human
GeneWikiiGNB5
GenomeRNAii10681
PROiPR:O14775
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000069966 Expressed in 220 organ(s), highest expression level in middle temporal gyrus
CleanExiHS_GNB5
ExpressionAtlasiO14775 baseline and differential
GenevisibleiO14775 HS

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, 5 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
ProtoNetiSearch...

Entry informationi

Entry nameiGNB5_HUMAN
AccessioniPrimary (citable) accession number: O14775
Secondary accession number(s): B2RBR5, Q9HAU9, Q9UFT3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: October 31, 2003
Last modified: October 10, 2018
This is version 172 of the entry and version 2 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, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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Main funding by: National Institutes of Health

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