INAVA
entrez
55765
canonical
uniprot
Q3KP66
canonical
ensembl
ENSG00000163362
resolver
ensp
ENSP00000356311
resolver
ensp
ENSP00000392105
resolver
enst
ENST00000367342
resolver
genesymbol
INAVA
resolver
genesymbol_syn
C1orf106
resolver
hgnc
HGNC:25599
resolver
uniprot
A0A8V8N8P9
resolver
uniprot
B4E1K9
resolver
uniprot
E9PFY0
resolver
uniprot
Q9NV65
resolver
uniprot
Q9NVI0
resolver
uniprot_entry
A0A8V8N8P9_HUMAN
resolver
uniprot_entry
INAVA_HUMAN
resolver
uniprot_sec
B4E1K9
resolver
uniprot_sec
E9PFY0
resolver
uniprot_sec
Q9NV65
resolver
uniprot_sec
Q9NVI0
resolver
amino_acid_sequence
MLQMPKLNEIPPGRAGRREARGEGRWPGQTGPEAARLEWRAQGQAGGARAPWDSWGSSRLPTQPGPGWSRCPPSLLCALSFQKSTMESKDEVSDTDSGIILQSGPDSPVSPMKELTHAVHKQQRALEARLEACLEELRRLCLREAELTGTLPAEYPLKPGEKAPKVRRRIGAAYKLDDWALHREDPLSSLERQLALQLQITEAARRLCLEENLSRQARRQRKHSMLQEEKKLQELQRCLVERRRNSEPPPAAALPLGRELSASDDSSLSDGLLLEEEESQVPKPPPESPAPPSRPLPPQTLEGLQPTGPEAGSPERAPVQNSPWKETSLDHPYEKPRKSSEPWSESSSPATTPQDGPSASSLWLLEPASYHVVPIRGVPGQWQGRTSAPATPEIQGRRGQSQSLRVDSFRAGPEGRGRSAFPRRRPTHYTVTVPDSCFPATKPPLPHAACHSCSEDSGSDVSSISHPTSPGSSSPDISFLQPLSPPKTHRHRGAWVPAGSRELVAHHPKLLLPPGYFPAGRYVVVAESPLPPGEWELRRAAPGPAYEEEGTPLRYQRLVPSRSRIVRTPSLKDSPAGRGLSKAAVSEELKWWHERARLRSTRPHSLDRQGAFRVRSLPLGREGFGRALGPRAQVPTVCVLRRSPDGAPVQVFVPEKGEIISQV
uniprot
proteins
disease_involvement
DISEASE: Inflammatory bowel disease 29 (IBD29) [MIM:618077]: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269|PubMed:21983784, ECO:0000269|PubMed:28436939, ECO:0000269|PubMed:29420262}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Expressed in peripheral macrophages and intestinal myeloid-derived cells, is required for optimal PRR (pattern recognition receptor)-induced signaling, cytokine secretion, and bacterial clearance. Upon stimulation of a broad range of PRRs (pattern recognition receptor) such as NOD2 or TLR2, TLR3, TLR4, TLR5, TLR7 and TLR9, associates with YWHAQ/14-3-3T, which in turn leads to the recruitment and activation of MAP kinases and NF-kappa-B signaling complexes that amplifies PRR-induced downstream signals and cytokine secretion (PubMed:28436939). In the intestine, regulates adherens junction stability by regulating the degradation of CYTH1 and CYTH2, probably acting as substrate cofactor for SCF E3 ubiquitin-protein ligase complexes. Stabilizes adherens junctions by limiting CYTH1-dependent ARF6 activation (PubMed:29420262). {ECO:0000269|PubMed:28436939, ECO:0000269|PubMed:29420262}.
uniprot
proteins
mass_dalton
72914
uniprot
proteins
mutagenesis
MUTAGEN 164..170; /note="PKVRRRI->AAAAAAA: No effect on nuclear translocation upon induction by MDP. Abolishes nuclear translocation upon induction by MDP and slightly decreases NOD2-induced AP-1 and NF-kappaB activation and IL6 secretion; when associated with 335-A--A-338 and 423-A--A-426."; /evidence="ECO:0000269|PubMed:28436939"; MUTAGEN 246; /note="S->A: Decreases interaction with YWHAQ, cellular signaling pathway activation and cytokine secretion."; /evidence="ECO:0000269|PubMed:28436939"; MUTAGEN 335..338; /note="KPRK->AAAA: No effect on nuclear translocation upon induction by MDP. Abolishes nuclear translocation upon induction by MDP and slightly decreases NOD2-induced AP-1 and NF-kappaB activation and IL6 secretion; when associated with 164-A--A-170 and 423-A--A-426."; /evidence="ECO:0000269|PubMed:28436939"; MUTAGEN 340; /note="S->A: Decreases interaction with YWHAQ, cellular signaling pathway activation and cytokine secretion."; /evidence="ECO:0000269|PubMed:28436939"; MUTAGEN 423..426; /note="RRRP->AAAA: No effect on nuclear translocation upon induction by MDP. Abolishes nuclear translocation upon induction by MDP and slightly decreases NOD2-induced AP-1 and NF-kappaB activation and IL6 secretion; when associated with 164-A--A-170 and 335-A--A-338."; /evidence="ECO:0000269|PubMed:28436939"; MUTAGEN 616; /note="S->A: Decreases interaction with YWHAQ, cellular signaling pathway activation and cytokine secretion."; /evidence="ECO:0000269|PubMed:28436939
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21983784
uniprot
proteins
pubmed
28436939
uniprot
proteins
pubmed
29420262
uniprot
proteins
sequence_length
663
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28436939}. Cytoplasm {ECO:0000269|PubMed:28436939}. Note=Translocates to the nucleus upon NOD2 stimulation. {ECO:0000269|PubMed:28436939}.
uniprot
proteins