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Protein

Guanine nucleotide-binding protein subunit alpha-11

Gene

GNA11

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

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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi53MagnesiumBy similarity1
Metal bindingi186MagnesiumBy similarity1
Binding sitei331GTP; via amide nitrogenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi46 – 53GTPBy similarity8
Nucleotide bindingi180 – 186GTPBy similarity7
Nucleotide bindingi205 – 209GTPBy similarity5
Nucleotide bindingi274 – 277GTPBy similarity4

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionTransducer
LigandGTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-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)
SIGNORiP29992

Names & Taxonomyi

Protein namesi
Recommended name:
Guanine nucleotide-binding protein subunit alpha-11
Short 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000088256.8
HGNCiHGNC:4379 GNA11
MIMi139313 gene
neXtProtiNX_P29992

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

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Hypocalciuric hypercalcemia, familial 2 (HHC2)1 Publication
The disease is caused by mutations 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.
See also OMIM:145981
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070166135L → Q in HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations. 1 PublicationCorresponds to variant dbSNP:rs587777019EnsemblClinVar.1
Natural variantiVAR_070168200Missing in HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations. 1 Publication1
Hypocalcemia, autosomal dominant 2 (HYPOC2)2 Publications
The disease is caused by mutations 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.
See also OMIM:615361
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07016560R → C in HYPOC2. 1 PublicationCorresponds to variant dbSNP:rs587777021EnsemblClinVar.1
Natural variantiVAR_070167181R → Q in HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations. 1 PublicationCorresponds to variant dbSNP:rs587777020EnsemblClinVar.1
Natural variantiVAR_070169211S → W in HYPOC2. 1 PublicationCorresponds to variant dbSNP:rs587777022EnsemblClinVar.1
Natural variantiVAR_070170341F → L in HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations. 1 PublicationCorresponds to variant dbSNP:rs140749796EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2767
MalaCardsiGNA11
MIMi145981 phenotype
615361 phenotype
OpenTargetsiENSG00000088256
Orphaneti428 Autosomal dominant hypocalcemia
101049 Familial hypocalciuric hypercalcemia type 2
PharmGKBiPA28764

Polymorphism and mutation databases

DMDMi3041682

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002037461 – 359Guanine nucleotide-binding protein subunit alpha-11Add BLAST359

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi9S-palmitoyl cysteine1 Publication1
Lipidationi10S-palmitoyl cysteine1 Publication1
Modified residuei183ADP-ribosylarginine; by cholera toxinBy similarity1
Modified residuei209Deamidated glutamine; by Photorhabdus PAU_022301 Publication1

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, Palmitate

Proteomic databases

EPDiP29992
MaxQBiP29992
PaxDbiP29992
PeptideAtlasiP29992
PRIDEiP29992

PTM databases

iPTMnetiP29992
PhosphoSitePlusiP29992
SwissPalmiP29992

Expressioni

Tissue specificityi

Expressed in testis.1 Publication

Gene expression databases

BgeeiENSG00000088256
CleanExiHS_GNA11
ExpressionAtlasiP29992 baseline and differential
GenevisibleiP29992 HS

Organism-specific databases

HPAiHPA048886

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 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109029, 39 interactors
CORUMiP29992
IntActiP29992, 7 interactors
STRINGi9606.ENSP00000078429

Structurei

3D structure databases

ProteinModelPortaliP29992
SMRiP29992
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the G-alpha family. G(q) subfamily.Curated

Phylogenomic databases

eggNOGiKOG0085 Eukaryota
ENOG410XNVQ LUCA
GeneTreeiENSGT00760000118851
HOGENOMiHOG000038729
HOVERGENiHBG063184
InParanoidiP29992
KOiK04635
OMAiFEHQYVN
OrthoDBiEOG091G0VUT
PhylomeDBiP29992
TreeFamiTF300673

Family and domain databases

CDDicd00066 G-alpha, 1 hit
Gene3Di1.10.400.10, 1 hit
InterProiView protein in InterPro
IPR000654 Gprotein_alpha_Q
IPR001019 Gprotein_alpha_su
IPR011025 GproteinA_insert
IPR027417 P-loop_NTPase
PANTHERiPTHR10218 PTHR10218, 1 hit
PfamiView protein in Pfam
PF00503 G-alpha, 1 hit
PRINTSiPR00318 GPROTEINA
PR00442 GPROTEINAQ
SMARTiView protein in SMART
SM00275 G_alpha, 1 hit
SUPFAMiSSF47895 SSF47895, 1 hit
SSF52540 SSF52540, 2 hits

Sequencei

Sequence statusi: Complete.

P29992-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:359
Mass (Da):42,123
Last modified:July 15, 1998 - v2
Checksum:iDD37176589E66046
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti6M → I in AAB64303 (Ref. 2) Curated1
Sequence conflicti266N → H in AAA99949 (PubMed:7492305).Curated1
Sequence conflicti285Y → H in AAA99949 (PubMed:7492305).Curated1
Sequence conflicti301 – 302DA → EP in AAA58624 (PubMed:1902575).Curated2
Sequence conflicti310L → P in AAB64303 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07016560R → C in HYPOC2. 1 PublicationCorresponds to variant dbSNP:rs587777021EnsemblClinVar.1
Natural variantiVAR_070166135L → Q in HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations. 1 PublicationCorresponds to variant dbSNP:rs587777019EnsemblClinVar.1
Natural variantiVAR_070167181R → Q in HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations. 1 PublicationCorresponds to variant dbSNP:rs587777020EnsemblClinVar.1
Natural variantiVAR_070168200Missing in HHC2; induces a decrease in sensitivity to changes in extracellular calcium concentrations. 1 Publication1
Natural variantiVAR_070169211S → W in HYPOC2. 1 PublicationCorresponds to variant dbSNP:rs587777022EnsemblClinVar.1
Natural variantiVAR_070170341F → 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
CCDSiCCDS12103.1
PIRiA39394 RGHUGY
RefSeqiNP_002058.2, NM_002067.4
UniGeneiHs.650575
Hs.654784

Genome annotation databases

EnsembliENST00000078429; ENSP00000078429; ENSG00000088256
GeneIDi2767
KEGGihsa:2767
UCSCiuc010xhe.5 human

Similar proteinsi

Entry informationi

Entry nameiGNA11_HUMAN
AccessioniPrimary (citable) accession number: P29992
Secondary accession number(s): O15109, Q14350, Q6IB00
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: July 15, 1998
Last modified: March 28, 2018
This is version 177 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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

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