UniProtKB - P29992 (GNA11_HUMAN)
Protein
Guanine nucleotide-binding protein subunit alpha-11
Gene
GNA11
Organism
Homo sapiens (Human)
Status
Functioni
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C. Transduces FFAR4 signaling in response to long-chain fatty acids (LCFAs).1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 53 | MagnesiumBy similarity | 1 | |
Metal bindingi | 186 | MagnesiumBy similarity | 1 | |
Binding sitei | 331 | GTP; via amide nitrogenBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 46 – 53 | GTPBy similarity | 8 | |
Nucleotide bindingi | 180 – 186 | GTPBy similarity | 7 | |
Nucleotide bindingi | 205 – 209 | GTPBy similarity | 5 | |
Nucleotide bindingi | 274 – 277 | GTPBy similarity | 4 |
GO - Molecular functioni
- G-protein beta/gamma-subunit complex binding Source: GO_Central
- G protein-coupled receptor binding Source: GO_Central
- GTPase activity Source: GO_Central
- GTP binding Source: UniProtKB-KW
- metal ion binding Source: UniProtKB-KW
- type 2A serotonin receptor binding Source: GO_Central
GO - Biological processi
- action potential Source: GO_Central
- adenylate cyclase-modulating G protein-coupled receptor signaling pathway Source: GO_Central
- cellular response to pH Source: Ensembl
- developmental pigmentation Source: Ensembl
- entrainment of circadian clock Source: AgBase
- G protein-coupled acetylcholine receptor signaling pathway Source: AgBase
- G protein-coupled receptor signaling pathway Source: Reactome
- heart development Source: Ensembl
- phospholipase C-activating dopamine receptor signaling pathway Source: GO_Central
- phototransduction, visible light Source: AgBase
- platelet activation Source: Reactome
- regulation of melanocyte differentiation Source: Ensembl
- signal transduction Source: ProtInc
- skeletal system development Source: Ensembl
Keywordsi
Molecular function | Transducer |
Ligand | GTP-binding, Magnesium, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | P29992 |
Reactomei | R-HSA-399997, Acetylcholine regulates insulin secretion R-HSA-416476, G alpha (q) signalling events R-HSA-418592, ADP signalling through P2Y purinoceptor 1 R-HSA-428930, Thromboxane signalling through TP receptor R-HSA-434316, Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion R-HSA-456926, Thrombin signalling through proteinase activated receptors (PARs) |
SIGNORi | P29992 |
Protein family/group databases
TCDBi | 8.A.92.1.5, the g-protein AlphaBetaGama complex (gpc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Guanine nucleotide-binding protein subunit alpha-11Short name: G alpha-11 Short name: G-protein subunit alpha-11 Alternative name(s): Guanine nucleotide-binding protein G(y) subunit alpha |
Gene namesi | Name:GNA11 Synonyms:GA11 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4379, GNA11 |
MIMi | 139313, gene |
neXtProti | NX_P29992 |
VEuPathDBi | HostDB:ENSG00000088256.8 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Lipid-anchor 1 Publication
Other locations
- Cytoplasm 1 Publication
Note: In testicular cells, expressed exclusively in the cytoplasm.
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Lysosome
- lysosomal membrane Source: UniProtKB
Plasma Membrane
- heterotrimeric G-protein complex Source: GO_Central
- plasma membrane Source: Reactome
Other locations
- cytoplasm Source: UniProtKB
- photoreceptor outer segment Source: AgBase
- synapse Source: GOC
Keywords - Cellular componenti
Cell membrane, Cytoplasm, MembranePathology & Biotechi
Involvement in diseasei
Hypocalciuric hypercalcemia, familial 2 (HHC2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070166 | 135 | L → Q in HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations. 1 PublicationCorresponds to variant dbSNP:rs587777019EnsemblClinVar. | 1 | |
Natural variantiVAR_070168 | 200 | Missing in HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations. 1 Publication | 1 |
Hypocalcemia, autosomal dominant 2 (HYPOC2)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of hypocalcemia, a disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070165 | 60 | R → C in HYPOC2. 1 PublicationCorresponds to variant dbSNP:rs587777021EnsemblClinVar. | 1 | |
Natural variantiVAR_070167 | 181 | R → Q in HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations. 1 PublicationCorresponds to variant dbSNP:rs587777020EnsemblClinVar. | 1 | |
Natural variantiVAR_070169 | 211 | S → W in HYPOC2. 1 PublicationCorresponds to variant dbSNP:rs587777022EnsemblClinVar. | 1 | |
Natural variantiVAR_070170 | 341 | F → L in HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations. 1 PublicationCorresponds to variant dbSNP:rs140749796EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 2767 |
MalaCardsi | GNA11 |
MIMi | 145981, phenotype 615361, phenotype |
OpenTargetsi | ENSG00000088256 |
Orphaneti | 428, Autosomal dominant hypocalcemia 101049, Familial hypocalciuric hypercalcemia type 2 79483, Phakomatosis cesioflammea 79484, Phakomatosis cesiomarmorata 39044, Uveal melanoma |
PharmGKBi | PA28764 |
Miscellaneous databases
Pharosi | P29992, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4295740 |
Genetic variation databases
BioMutai | GNA11 |
DMDMi | 3041682 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000203746 | 1 – 359 | Guanine nucleotide-binding protein subunit alpha-11Add BLAST | 359 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Lipidationi | 9 | S-palmitoyl cysteine1 Publication | 1 | |
Lipidationi | 10 | S-palmitoyl cysteine1 Publication | 1 | |
Modified residuei | 183 | ADP-ribosylarginine; by cholera toxinBy similarity | 1 | |
Modified residuei | 209 | Deamidated glutamine; by Photorhabdus PAU_022301 Publication | 1 |
Post-translational modificationi
(Microbial infection) Deamidated at Gln-209 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA.1 Publication
Keywords - PTMi
ADP-ribosylation, Lipoprotein, PalmitateProteomic databases
EPDi | P29992 |
jPOSTi | P29992 |
MassIVEi | P29992 |
MaxQBi | P29992 |
PaxDbi | P29992 |
PeptideAtlasi | P29992 |
PRIDEi | P29992 |
ProteomicsDBi | 54615 |
PTM databases
iPTMneti | P29992 |
PhosphoSitePlusi | P29992 |
SwissPalmi | P29992 |
Expressioni
Tissue specificityi
Expressed in testis.1 Publication
Gene expression databases
Bgeei | ENSG00000088256, Expressed in colonic mucosa and 250 other tissues |
ExpressionAtlasi | P29992, baseline and differential |
Genevisiblei | P29992, HS |
Organism-specific databases
HPAi | ENSG00000088256, Tissue enhanced (intestine) |
Interactioni
Subunit structurei
G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.
Interacts with RGS22.
Interacts with NTSR1.
2 PublicationsGO - Molecular functioni
- G protein-coupled receptor binding Source: GO_Central
- type 2A serotonin receptor binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 109029, 49 interactors |
CORUMi | P29992 |
IntActi | P29992, 13 interactors |
MINTi | P29992 |
STRINGi | 9606.ENSP00000078429 |
Chemistry databases
BindingDBi | P29992 |
Miscellaneous databases
RNActi | P29992, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P29992 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 38 – 359 | G-alphaPROSITE-ProRule annotationAdd BLAST | 322 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 41 – 54 | G1 motifPROSITE-ProRule annotationAdd BLAST | 14 | |
Regioni | 178 – 186 | G2 motifPROSITE-ProRule annotation | 9 | |
Regioni | 201 – 210 | G3 motifPROSITE-ProRule annotation | 10 | |
Regioni | 270 – 277 | G4 motifPROSITE-ProRule annotation | 8 | |
Regioni | 329 – 334 | G5 motifPROSITE-ProRule annotation | 6 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0085, Eukaryota |
GeneTreei | ENSGT00940000161033 |
HOGENOMi | CLU_014184_6_0_1 |
InParanoidi | P29992 |
OMAi | QMRYIHT |
OrthoDBi | 754573at2759 |
PhylomeDBi | P29992 |
TreeFami | TF300673 |
Family and domain databases
CDDi | cd00066, G-alpha, 1 hit |
Gene3Di | 1.10.400.10, 1 hit |
InterProi | View protein in InterPro IPR000654, Gprotein_alpha_Q IPR001019, Gprotein_alpha_su IPR011025, GproteinA_insert IPR027417, P-loop_NTPase |
PANTHERi | PTHR10218, PTHR10218, 1 hit |
Pfami | View protein in Pfam PF00503, G-alpha, 1 hit |
PRINTSi | PR00318, GPROTEINA PR00442, GPROTEINAQ |
SMARTi | View protein in SMART SM00275, G_alpha, 1 hit |
SUPFAMi | SSF47895, SSF47895, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS51882, G_ALPHA, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
P29992-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MTLESMMACC LSDEVKESKR INAEIEKQLR RDKRDARREL KLLLLGTGES
60 70 80 90 100
GKSTFIKQMR IIHGAGYSEE DKRGFTKLVY QNIFTAMQAM IRAMETLKIL
110 120 130 140 150
YKYEQNKANA LLIREVDVEK VTTFEHQYVS AIKTLWEDPG IQECYDRRRE
160 170 180 190 200
YQLSDSAKYY LTDVDRIATL GYLPTQQDVL RVRVPTTGII EYPFDLENII
210 220 230 240 250
FRMVDVGGQR SERRKWIHCF ENVTSIMFLV ALSEYDQVLV ESDNENRMEE
260 270 280 290 300
SKALFRTIIT YPWFQNSSVI LFLNKKDLLE DKILYSHLVD YFPEFDGPQR
310 320 330 340 350
DAQAAREFIL KMFVDLNPDS DKIIYSHFTC ATDTENIRFV FAAVKDTILQ
LNLKEYNLV
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7EL62 | K7EL62_HUMAN | Guanine nucleotide-binding protein ... | GNA11 | 236 | Annotation score: | ||
A0A087WVZ3 | A0A087WVZ3_HUMAN | Guanine nucleotide-binding protein ... | GNA11 | 72 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 6 | M → I in AAB64303 (Ref. 2) Curated | 1 | |
Sequence conflicti | 266 | N → H in AAA99949 (PubMed:7492305).Curated | 1 | |
Sequence conflicti | 285 | Y → H in AAA99949 (PubMed:7492305).Curated | 1 | |
Sequence conflicti | 301 – 302 | DA → EP in AAA58624 (PubMed:1902575).Curated | 2 | |
Sequence conflicti | 310 | L → P in AAB64303 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070165 | 60 | R → C in HYPOC2. 1 PublicationCorresponds to variant dbSNP:rs587777021EnsemblClinVar. | 1 | |
Natural variantiVAR_070166 | 135 | L → Q in HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations. 1 PublicationCorresponds to variant dbSNP:rs587777019EnsemblClinVar. | 1 | |
Natural variantiVAR_070167 | 181 | R → Q in HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations. 1 PublicationCorresponds to variant dbSNP:rs587777020EnsemblClinVar. | 1 | |
Natural variantiVAR_070168 | 200 | Missing in HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations. 1 Publication | 1 | |
Natural variantiVAR_070169 | 211 | S → W in HYPOC2. 1 PublicationCorresponds to variant dbSNP:rs587777022EnsemblClinVar. | 1 | |
Natural variantiVAR_070170 | 341 | F → L in HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations. 1 PublicationCorresponds to variant dbSNP:rs140749796EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M69013 mRNA Translation: AAA58624.1 AF011497 mRNA Translation: AAB64303.1 AF493900 mRNA Translation: AAM12614.1 CR457004 mRNA Translation: CAG33285.1 AC005262 Genomic DNA Translation: AAC25615.1 BC089041 mRNA Translation: AAH89041.1 BC096225 mRNA Translation: AAH96225.1 BC096226 mRNA Translation: AAH96226.1 BC096227 mRNA Translation: AAH96227.1 L40630 mRNA Translation: AAA99949.1 |
CCDSi | CCDS12103.1 |
PIRi | A39394, RGHUGY |
RefSeqi | NP_002058.2, NM_002067.4 |
Genome annotation databases
Ensembli | ENST00000078429; ENSP00000078429; ENSG00000088256 |
GeneIDi | 2767 |
KEGGi | hsa:2767 |
UCSCi | uc010xhe.5, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M69013 mRNA Translation: AAA58624.1 AF011497 mRNA Translation: AAB64303.1 AF493900 mRNA Translation: AAM12614.1 CR457004 mRNA Translation: CAG33285.1 AC005262 Genomic DNA Translation: AAC25615.1 BC089041 mRNA Translation: AAH89041.1 BC096225 mRNA Translation: AAH96225.1 BC096226 mRNA Translation: AAH96226.1 BC096227 mRNA Translation: AAH96227.1 L40630 mRNA Translation: AAA99949.1 |
CCDSi | CCDS12103.1 |
PIRi | A39394, RGHUGY |
RefSeqi | NP_002058.2, NM_002067.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6OIJ | electron microscopy | 3.30 | A | 36-359 | [»] | |
SMRi | P29992 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109029, 49 interactors |
CORUMi | P29992 |
IntActi | P29992, 13 interactors |
MINTi | P29992 |
STRINGi | 9606.ENSP00000078429 |
Chemistry databases
BindingDBi | P29992 |
ChEMBLi | CHEMBL4295740 |
Protein family/group databases
TCDBi | 8.A.92.1.5, the g-protein AlphaBetaGama complex (gpc) family |
PTM databases
iPTMneti | P29992 |
PhosphoSitePlusi | P29992 |
SwissPalmi | P29992 |
Genetic variation databases
BioMutai | GNA11 |
DMDMi | 3041682 |
Proteomic databases
EPDi | P29992 |
jPOSTi | P29992 |
MassIVEi | P29992 |
MaxQBi | P29992 |
PaxDbi | P29992 |
PeptideAtlasi | P29992 |
PRIDEi | P29992 |
ProteomicsDBi | 54615 |
Protocols and materials databases
Antibodypediai | 53288, 249 antibodies |
Genome annotation databases
Ensembli | ENST00000078429; ENSP00000078429; ENSG00000088256 |
GeneIDi | 2767 |
KEGGi | hsa:2767 |
UCSCi | uc010xhe.5, human |
Organism-specific databases
CTDi | 2767 |
DisGeNETi | 2767 |
GeneCardsi | GNA11 |
HGNCi | HGNC:4379, GNA11 |
HPAi | ENSG00000088256, Tissue enhanced (intestine) |
MalaCardsi | GNA11 |
MIMi | 139313, gene 145981, phenotype 615361, phenotype |
neXtProti | NX_P29992 |
OpenTargetsi | ENSG00000088256 |
Orphaneti | 428, Autosomal dominant hypocalcemia 101049, Familial hypocalciuric hypercalcemia type 2 79483, Phakomatosis cesioflammea 79484, Phakomatosis cesiomarmorata 39044, Uveal melanoma |
PharmGKBi | PA28764 |
VEuPathDBi | HostDB:ENSG00000088256.8 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0085, Eukaryota |
GeneTreei | ENSGT00940000161033 |
HOGENOMi | CLU_014184_6_0_1 |
InParanoidi | P29992 |
OMAi | QMRYIHT |
OrthoDBi | 754573at2759 |
PhylomeDBi | P29992 |
TreeFami | TF300673 |
Enzyme and pathway databases
PathwayCommonsi | P29992 |
Reactomei | R-HSA-399997, Acetylcholine regulates insulin secretion R-HSA-416476, G alpha (q) signalling events R-HSA-418592, ADP signalling through P2Y purinoceptor 1 R-HSA-428930, Thromboxane signalling through TP receptor R-HSA-434316, Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion R-HSA-456926, Thrombin signalling through proteinase activated receptors (PARs) |
SIGNORi | P29992 |
Miscellaneous databases
BioGRID-ORCSi | 2767, 16 hits in 872 CRISPR screens |
ChiTaRSi | GNA11, human |
GeneWikii | GNA11 |
GenomeRNAii | 2767 |
Pharosi | P29992, Tbio |
PROi | PR:P29992 |
RNActi | P29992, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000088256, Expressed in colonic mucosa and 250 other tissues |
ExpressionAtlasi | P29992, baseline and differential |
Genevisiblei | P29992, HS |
Family and domain databases
CDDi | cd00066, G-alpha, 1 hit |
Gene3Di | 1.10.400.10, 1 hit |
InterProi | View protein in InterPro IPR000654, Gprotein_alpha_Q IPR001019, Gprotein_alpha_su IPR011025, GproteinA_insert IPR027417, P-loop_NTPase |
PANTHERi | PTHR10218, PTHR10218, 1 hit |
Pfami | View protein in Pfam PF00503, G-alpha, 1 hit |
PRINTSi | PR00318, GPROTEINA PR00442, GPROTEINAQ |
SMARTi | View protein in SMART SM00275, G_alpha, 1 hit |
SUPFAMi | SSF47895, SSF47895, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS51882, G_ALPHA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GNA11_HUMAN | |
Accessioni | P29992Primary (citable) accession number: P29992 Secondary accession number(s): O15109, Q14350, Q6IB00 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1993 |
Last sequence update: | July 15, 1998 | |
Last modified: | February 10, 2021 | |
This is version 198 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families