INAVA (innate immunity activator)

Gene

• Entrez ID: 55765
• Gene name: Innate immunity activator
• Gene symbol: INAVA
• Synonyms (NCBI Gene): C1orf106
• Chromosome: 1
• Chromosome location: 1q32.1

Gene ontology (GO)

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
GO:0005634	Component	Nucleus	IMP	28436939
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	28436939
GO:0016604	Component	Nuclear body	IDA
GO:0031398	Process	Positive regulation of protein ubiquitination	IBA
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IMP	29420262
GO:0032494	Process	Response to peptidoglycan	IMP	28436939
GO:0032495	Process	Response to muramyl dipeptide	IMP	28436939
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IMP	28436939
GO:0032733	Process	Positive regulation of interleukin-10 production	IMP	28436939
GO:0032755	Process	Positive regulation of interleukin-6 production	IMP	28436939
GO:0032874	Process	Positive regulation of stress-activated MAPK cascade	IMP	28436939
GO:0034334	Process	Adherens junction maintenance	IBA
GO:0034334	Process	Adherens junction maintenance	IEA
GO:0034334	Process	Adherens junction maintenance	IMP	29420262
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	28436939
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	28436939
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	IMP	28436939
GO:0060729	Process	Intestinal epithelial structure maintenance	IEA
GO:0060729	Process	Intestinal epithelial structure maintenance	ISS
GO:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP	28436939
GO:1903409	Process	Reactive oxygen species biosynthetic process	IMP	28436939

Other IDs

• MIM: 618051
• HGNC: 25599
• e!Ensembl: ENSG00000163362

Protein

• UniProt ID: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR UVEITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory bowel disease 29	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INFLAMMATORY BOWEL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	23749187, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior uveitis	Uveitis	GWASCAT_DG	25200001		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	31376015		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	22057235, 25920553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASDB_DG	22057235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	26859134	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	21102463		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	21102463, 26192919, 26974007, 28067908		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	21437271	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	35711463	Associate	★☆☆☆☆ Found in Text Mining only
INFLAMMATORY BOWEL DISEASE 29	Inflammatory Bowel Disease	UNIPROT_DG	21983784, 28436939, 29420262		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	CTD_human_DG	21983784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 26192919, 28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28436939, 29420262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	28436939	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	31376015		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	21833088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	21833088, 24076602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	19915572, 21297633, 26192919, 26974007, 28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	19915572, 21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations