GNAQ_HUMAN
Source:
hRBCD
; ID:
IPI00288947
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Membrane associated protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
GNAQ
, GAQ
Protein names and data:
GNAQ_HUMAN
, Guanine nucleotide-binding protein G(q) subunit alpha
, Guanine nucleotide-binding protein alpha-q
Lenght: 359 a.a.
Mass: 42142 Da
fasta formatted sequence
Function:
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity).
Disease:
( OMIM:
163000
185300
600998
)
Capillary malformations, congenital (CMC) [MIM:163000]: A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity. Note=The disease is caused by mutations affecting the gene represented in this entry. Sturge-Weber syndrome (SWS) [MIM:185300]: A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Nucleus (By similarity). Membrane (By similarity). Nucleus membrane (By similarity). Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes (By similarity).
Tissue specificity:
Predominantly expressed in ovary, prostate, testis and colon. Down-regulated in the peripheral blood lymphocytes (PBLs) of rheumatoid arthritis patients (at protein level).
Genetic variants
183 - 183
R -> Q (in SWS; found as somatic mosaic mutation in CMC; also found in melanocytomas sample; somatic mutation; shows significant activation of EPHB2 compared to control). VAR_067270
209 - 209
Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation). VAR_067271
355 - 355
E -> D (in dbSNP:rs1059531). VAR_059319
1059531
Database cross-references
UniProt:
P50148
Ensembl:
ENST00000286548
MIM:
163000
MIM:
185300
MIM:
600998
neXtProt:
NX_P50148
Antibodypedia:
P50148
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.