INAVA (innate immunity activator)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 55765
Gene name Innate immunity activator
Gene symbol INAVA
Synonyms (NCBI Gene)
C1orf106
Chromosome 1
Chromosome location 1q32.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0002221 Process Pattern recognition receptor signaling pathway IMP 28436939
GO:0002376 Process Immune system process IEA
GO:0002720 Process Positive regulation of cytokine production involved in immune response IMP 28436939
GO:0005515 Function Protein binding IPI 28436939, 28514442, 29420262, 31022698, 33961781
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618051 25599 ENSG00000163362
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q3KP66
Protein name Innate immunity activator protein
Protein 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 (patte
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11819 CUPID 87 → 216 Cytohesin Ubiquitin Protein Inducing Domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in intestinal myeloid-derived cells and expressed in monocyte-derived macrophages upon induction by PRR activation. {ECO:0000269|PubMed:28436939, ECO:0000269|PubMed:29420262}.
Sequence 
MLQMPKLNEIPPGRAGRREARGEGRWPGQTGPEAARLEWRAQGQAGGARAPWDSWGSSRL
PTQPGPGWSRCPPSLLCALSFQKSTMESKDEVSDTDSGIILQSGPDSPVSPMKELTHAVH
KQQRALEARLEACLEELRRLCLREAELTGTLPAEYPLKPGEKAPKVRRRIGAAYKLDDWA
LHREDPLSSLERQLALQLQITEAARRLCLEENLSRQARRQRKHSMLQEEKKLQELQRCLV
ERRRNSEPPPAAALPLGRELSASDDSSLSDGLLLEEEESQVPKPPPESPAPPSRPLPPQT
LEGLQPTGPEAGSPERAPVQNSPWKETSLDHPYEKPRKSSEPWSESSSPATTPQDGPSAS
SLWLLEPASYHVVPIRGVPGQWQGRTSAPATPEIQGRRGQSQSLRVDSFRAGPEGRGRSA
FPRRRPTHYTVTVPDSCFPATKPPLPHAACHSCSEDSGSDVSSISHPTSPGSSSPDISFL
QPLSPPKTHRHRGAWVPAGSRELVAHHPKLLLPPGYFPAGRYVVVAESPLPPGEWELRRA
APGPAYEEEGTPLRYQRLVPSRSRIVRTPSLKDSPAGRGLSKAAVSEELKWWHERARLRS
TRPHSLDRQGAFRVRSLPLGREGFGRALGPRAQVPTVCVLRRSPDGAPVQVFVPEKGEII
SQV
Sequence length 663
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Inflammatory bowel disease 29 Uncertain significance; Conflicting classifications of pathogenicity rs773330158, rs41313912 RCV002266626
RCV000677146
See cases Likely benign rs116087951 RCV002253044
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Celiac Disease Associate 26859134
Crohn Disease Associate 21437271
Dermatomyositis Associate 35711463
Inflammatory Bowel Diseases Associate 28436939