Reactome | UniProt:O14775-1 GNB5

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UniProt:O14775-1 GNB5 Show undefined attributes

chain	chain:1-395
checksum	E001B07FCFA587AD
comment	FUNCTION Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, such as RGS7 and RGS9, 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 (PubMed:27677260). Increases RGS7 GTPase-activating protein (GAP) activity, thereby regulating mood and cognition (By similarity). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) 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).SUBUNIT 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 (PubMed:27677260). Interacts with RGS7, forming the RGS7-GNB5 complex; within this complex, the presence of GNB5 increases RGS7 GTPase-activating protein (GAP) activity (PubMed:34815401). Interacts with GPR158; promotes the GTPase activator activity of the RGS7-GNB5 complex in absence of glycine, in contrast GTPase activator activity of the RGS7-GNB5 complex is inhibited in presence of glycine (PubMed:10339615, PubMed:10521509, PubMed:34815401). Interacts with RGS6 (PubMed:10339615, PubMed:10521509).SUBCELLULAR LOCATION Widely expressed.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the WD repeat G protein beta family.
crossReference	[DatabaseIdentifier:10978323] Pharos - Targets:O14775 [DatabaseIdentifier:11073102] OpenTargets:ENSG00000069966 [DatabaseIdentifier:11611726] RefSeq:NP_006569.1 [DatabaseIdentifier:11611740] RefSeq:NP_057278.2 [DatabaseIdentifier:11781579] PDB:7EWP [DatabaseIdentifier:11781590] PDB:7EWR [DatabaseIdentifier:11837164] PRO:O14775 [DatabaseIdentifier:11848655] GeneCards:O14775 [DatabaseIdentifier:11884104] Orphanet:28419 [DatabaseIdentifier:11887388] HMDB Protein:HMDBP08402 [DatabaseIdentifier:11901902] HPA:ENSG00000069966-GNB5 [DatabaseIdentifier:12101783] Ensembl:ENSP00000379626 [DatabaseIdentifier:12101784] Ensembl:ENST00000396335 [DatabaseIdentifier:12101785] Ensembl:ENST00000358784 [DatabaseIdentifier:12101786] Ensembl:ENST00000261837 [DatabaseIdentifier:12101787] Ensembl:ENSG00000069966 [DatabaseIdentifier:12101788] Ensembl:ENSP00000351635 [DatabaseIdentifier:12101789] Ensembl:ENSP00000261837
databaseName	UniProt
dbId	55390
description	recommendedName: Guanine nucleotide-binding protein subunit beta-5 alternativeName: Gbeta5 alternativeName: Transducin beta chain 5
displayName	UniProt:O14775-1 GNB5
geneName	GNB5
identifier	O14775
isSequenceChanged	false
isoformParent	[ReferenceGeneProduct:401258] UniProt:O14775 GNB5
keyword	3D-structure Alternative splicing Disease variant Intellectual disability Membrane Reference proteome Repeat Transducer WD repeat
modified	[InstanceEdit:12187927] Wright, Adam, 2024-03-12
name	GNB5
otherIdentifier	10681 11722344_s_at 11727555_a_at 11756013_a_at 11759436_at 1561019_PM_at 1561019_at 16809369 16809374 204000_PM_at 204000_at 207124_PM_s_at 207124_s_at 211871_PM_x_at 211871_x_at 221320_PM_at 221320_at 236491_PM_at 236491_at 242404_PM_at 242404_at 3624413 3624414 3624415 3624416 3624417 3624418 3624419 3624420 3624435 3624436 3624442 3624444 3624446 3624447 3624449 3624450 3624451 3624452 3624453 3624454 3624455 3624458 3624459 3624461 3624463 3624468 3624470 3624479 3624484 3624489 3624496 3624502 3624503 3624504 3624506 3624508 38176_at 50421_at 51025_at 59007_at 7988852 7988859 90035_at A_21_P0008848 A_23_P163209 A_23_P205778 GE56478 GE803932 GE80623 GE81655 GE900555 GO:0003824 GO:0003924 GO:0005096 GO:0005515 GO:0005634 GO:0005737 GO:0005829 GO:0005834 GO:0005886 GO:0007165 GO:0007186 GO:0007212 GO:0016020 GO:0016787 GO:0023052 GO:0030159 GO:0031682 GO:0036367 GO:0043226 GO:0043547 GO:0051087 GO:0055085 GO:0060090 GO:0098772 GO:0098793 GO:1901386 GO:1902773 GO:1990603 HMNXSV003010031 HMNXSV003030977 HMNXSV003039770 HMNXSV003043208 Hs.23565.0.A1_3p_at Hs.40937.0.A1_3p_x_at Hs2.407348.1.S1_3p_s_at ILMN_1698395 ILMN_1712348 ILMN_2412294 PH_hs_0009338 PH_hs_0014661 TC15001452.hg TC15001453.hg TC15002538.hg TC15002539.hg g10505351_3p_s_at g7705366_3p_at g9966782_3p_at g9966782_3p_x_at p19583 p26688
physicalEntity	[EntityWithAccessionedSequence:R-HSA-74598] GNB5-1 [photoreceptor disc membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8995993] ENSEMBL:ENSG00000069966 GNB5 [ReferenceDNASequence:11246226] NCBI Gene:10681 GNB5 [ReferenceDNASequence:11246227] BioGPS Gene:10681 GNB5 [ReferenceDNASequence:11246228] CTD Gene:10681 GNB5 [ReferenceDNASequence:11246229] dbSNP Gene:10681 GNB5 [ReferenceDNASequence:11246230] Monarch:10681 GNB5 [ReferenceDNASequence:11347390] ENSEMBL_homo_sapiens_GENE:ENSG00000069966.19 GNB5 [ReferenceDNASequence:11519868] UCSC:O14775 GNB5 [ReferenceDNASequence:11801809] OMIM:604447 GNB5 [ReferenceDNASequence:11876011] HGNC:4401 GNB5 [ReferenceDNASequence:12194118] COSMIC (genes):GNB5 GNB5
referenceTranscript	[ReferenceRNASequence:11471355] RefSeq:NM_006578.3 GNB5 [ReferenceRNASequence:11471361] RefSeq:NM_016194.3 GNB5
schemaClass	ReferenceIsoform
secondaryIdentifier	GNB5_HUMAN B2RBR5 Q9HAU9 Q9UFT3
sequenceLength	395
species	[Species:48887] Homo sapiens
url	https://purl.uniprot.org/uniprot/O14775-1
variantIdentifier	O14775-1

Referrals

(referenceEntity)

[EntityWithAccessionedSequence:R-HSA-74598] GNB5-1 [photoreceptor disc membrane]