INAVA (innate immunity activator)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55765
Gene name Gene Name - the full gene name approved by the HGNC.
Innate immunity activator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
INAVA
Synonyms (NCBI Gene) Gene synonyms aliases
C1orf106
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.1
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618051 25599 ENSG00000163362
Protein
Gene Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (8)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Acne acne vulgaris N/A N/A GWAS
Ankylosing Spondylitis Ankylosing spondylitis N/A N/A GWAS
Celiac disease Celiac disease N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease 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