GNA11
entrez
2767
canonical
uniprot
P29992
canonical
ensembl
ENSG00000088256
resolver
ensp
ENSP00000078429
resolver
enst
ENST00000078429
resolver
genesymbol
GNA11
resolver
genesymbol_syn
GA11
resolver
hgnc
HGNC:4379
resolver
uniprot
O15109
resolver
uniprot
Q14350
resolver
uniprot
Q6IB00
resolver
uniprot_entry
GNA11_HUMAN
resolver
uniprot_sec
O15109
resolver
uniprot_sec
Q14350
resolver
uniprot_sec
Q6IB00
resolver
amino_acid_sequence
MTLESMMACCLSDEVKESKRINAEIEKQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGAGYSEEDKRGFTKLVYQNIFTAMQAMIRAMETLKILYKYEQNKANALLIREVDVEKVTTFEHQYVSAIKTLWEDPGIQECYDRRREYQLSDSAKYYLTDVDRIATLGYLPTQQDVLRVRVPTTGIIEYPFDLENIIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLVESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEDKILYSHLVDYFPEFDGPQRDAQAAREFILKMFVDLNPDSDKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV
uniprot
proteins
disease_involvement
DISEASE: Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981]: A 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. {ECO:0000269|PubMed:23802516}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]: A 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. {ECO:0000269|PubMed:23782177, ECO:0000269|PubMed:23802516}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.-
uniprot
proteins
function
FUNCTION: Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:31073061). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:31073061). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:31073061). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal (PubMed:31073061). Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:31073061). Signaling is mediated via phospholipase C-beta-dependent inositol lipid hydrolysis for signal propagation: activates phospholipase C-beta: following GPCR activation, GNA11 activates PLC-beta (PLCB1, PLCB2, PLCB3 or PLCB4), leading to production of diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) (PubMed:31073061). Transduces FFAR4 signaling in response to long-chain fatty acids (LCFAs) (PubMed:27852822). Together with GNAQ, required for heart development (By similarity). In the respiratory epithelium, transmits OXGR1-dependent signals that lead to downstream intracellular Ca(2+) release and mucocilliary clearance of airborne pathogens. {ECO:0000250|UniProtKB:P21278, ECO:0000269|PubMed:27852822, ECO:0000269|PubMed:31073061, ECO:0000269|PubMed:36919698}.
uniprot
proteins
mass_dalton
42123
uniprot
proteins
post_translational_modification
PTM: (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. {ECO:0000269|PubMed:24141704}.
uniprot
proteins
protein_family
G(q) subfamily
uniprot
proteins
protein_family
G-alpha family
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18703424
uniprot
proteins
pubmed
1902575
uniprot
proteins
pubmed
21044946
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21725197
uniprot
proteins
pubmed
23782177
uniprot
proteins
pubmed
23802516
uniprot
proteins
pubmed
24141704
uniprot
proteins
pubmed
27852822
uniprot
proteins
pubmed
31073061
uniprot
proteins
pubmed
35061538
uniprot
proteins
pubmed
36919698
uniprot
proteins
pubmed
7492305
uniprot
proteins
sequence_length
359
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:18703424}; Lipid-anchor {ECO:0000305|PubMed:18703424}. Cytoplasm {ECO:0000269|PubMed:18703424}. Note=In testicular cells, expressed exclusively in the cytoplasm. {ECO:0000269|PubMed:18703424}.
uniprot
proteins