GPATCH3
entrez
63906
canonical
uniprot
Q96I76
canonical
ensembl
ENSG00000198746
resolver
ensp
ENSP00000354645
resolver
enst
ENST00000361720
resolver
genesymbol
GPATCH3
resolver
genesymbol_syn
GPATC3
resolver
hgnc
HGNC:25720
resolver
uniprot
Q5JYH2
resolver
uniprot
Q8NDJ2
resolver
uniprot
Q9H9Z3
resolver
uniprot_entry
GPTC3_HUMAN
resolver
uniprot_sec
Q5JYH2
resolver
uniprot_sec
Q8NDJ2
resolver
uniprot_sec
Q9H9Z3
resolver
amino_acid_sequence
MAVPGEAEEEATVYLVVSGIPSVLRSAHLRSYFSQFREERGGGFLCFHYRHRPERAPPQAAPNSALIPTDPAAEGQLLSQTSATDVRPLSTRDSTPIQTRTCCCVISVRGLAQAQRLIRMYSGRRWLDSHGTWLPGRCLIRRLRLPTEASGLGSFPFKTRKELQSWKAENEAFTLADLKQLPELNPPVLMPRGNVGTPLRVFLELIRACRLPPRIITQLQLQFPKTGSSRRYGNVPFEYEDSETVEQEELVYTAEGEEIPQGTYLADIPASPCGEPEEEVGKEEEEESHSDEDDDRGEEWERHEALHEDVTGQERTTEQLFEEEIELKWEKGGSGLVFYTDAQFWQEEEGDFDEQTADDWDVDMSVYYDRDGGDKDARDSVQMRLEQRLRDGQEDGSVIERQVGTFERHTKGIGRKVMERQGWAEGQGLGCRCSGVPEALDSDGQHPRCKRGLGYHGEKLQPFGQLKRPRRNGLGLISTIYDEPLPQDQTESLLRRQPPTSMKFRTDMAFVRGSSCASDSPSLPD
uniprot
proteins
disease_involvement
DISEASE: Note=GPATCH3 variants may be involved in the pathogenesis of congenital glaucoma, an ocular disease characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. {ECO:0000269|PubMed:28397860}.
uniprot
proteins
function
FUNCTION: Involved in transcriptional regulation. It is able to activate transcription from the CXCR4 promoter and therefore it might control neural crest cell migration involved in ocular and craniofacial development (PubMed:28397860). Is a negative regulator of immune antiviral response, acting via down-regulation of RIG-I-like receptors signaling and inhibition of type I interferon production. The control mechanism involves interaction with mitochondrial MAVS and inhibition of MAVS assembly with downstream proteins implicated in antiviral response, such as TBK1 and TRAF6 (PubMed:28414768). {ECO:0000269|PubMed:28397860, ECO:0000269|PubMed:28414768}.
uniprot
proteins
mass_dalton
59338
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
28397860
uniprot
proteins
pubmed
28414768
uniprot
proteins
sequence_length
525
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28397860}. Cytoplasm {ECO:0000269|PubMed:28397860}.
uniprot
proteins