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Aliases for INAVA Gene

Aliases for INAVA Gene

  • Innate Immunity Activator 2 3 5
  • C1orf106 3 4
  • Chromosome 1 Open Reading Frame 106 2
  • Innate Immunity Activator Protein 3
  • Uncharacterized Protein C1orf106 3

External Ids for INAVA Gene

Previous HGNC Symbols for INAVA Gene

  • C1orf106

Summaries for INAVA Gene

GeneCards Summary for INAVA Gene

INAVA (Innate Immunity Activator) is a Protein Coding gene. Diseases associated with INAVA include Crohn's Disease and Inflammatory Bowel Disease. An important paralog of this gene is FRMD4A.

UniProtKB/Swiss-Prot for INAVA Gene

  • 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).

Additional gene information for INAVA Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INAVA Gene

Genomics for INAVA Gene

GeneHancer (GH) Regulatory Elements for INAVA Gene

Promoters and enhancers for INAVA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J200889 Enhancer 0.4 ENCODE dbSUPER 650.7 -1.4 -1360 0 INAVA GPR25
GH01J200890 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 13.6 +4.6 4587 10 PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF207 ZNF143 DDX59 INAVA MROH3P IPO9-AS1 CAMSAP2 ENSG00000234132 CSRP1 IGFN1 TMEM9 GC01M200900
GH01J200861 Enhancer 1 ENCODE dbSUPER 11.4 -28.1 -28149 2.2 HDGF PKNOX1 SMAD1 MAX EBF1 BATF KLF5 IRF4 RELA NFATC1 RPL34P6 INAVA CAMSAP2 LOC101929224 GC01M200787
GH01J201017 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 4.8 +129.8 129759 6.4 HDGF PKNOX1 CLOCK SMAD1 ARNT SIN3A YY1 POLR2B ZNF766 ZNF143 KIF21B ENSG00000234132 MROH3P ENSG00000273478 RNPEP ELF3-AS1 DDX59 INAVA ENSG00000229191 LOC101929305
GH01J200915 Enhancer 0.8 ENCODE dbSUPER 11.4 +25.8 25811 1.9 CTCF GATAD2A PKNOX1 NFIA CEBPB MIER2 CEBPG REST XRCC5 POLR2A MROH3P INAVA GPR25 ENSG00000234132 GC01M200933
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INAVA on UCSC Golden Path with GeneCards custom track

Genomic Locations for INAVA Gene

Genomic Locations for INAVA Gene
chr1:200,891,048-200,915,736
(GRCh38/hg38)
Size:
24,689 bases
Orientation:
Plus strand
chr1:200,860,176-200,884,864
(GRCh37/hg19)
Size:
24,689 bases
Orientation:
Plus strand

Genomic View for INAVA Gene

Genes around INAVA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INAVA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INAVA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INAVA Gene

Proteins for INAVA Gene

  • Protein details for INAVA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3KP66-INAVA_HUMAN
    Recommended name:
    Innate immunity activator protein
    Protein Accession:
    Q3KP66
    Secondary Accessions:
    • B4E1K9
    • E9PFY0
    • Q9NV65
    • Q9NVI0

    Protein attributes for INAVA Gene

    Size:
    663 amino acids
    Molecular mass:
    72914 Da
    Quaternary structure:
    • Interacts with IRAK1, NOD2 and RIPK2; the interaction takes place upon PRR stimulation (PubMed:28436939). Interacts with YWHAQ/14-3-3T; the interaction increases upon PRR stimulation and is required for cellular signaling pathway activation and cytokine secretion (PubMed:28436939). Interacts (via N-terminal domain) with CYTH1 and CYTH2 (via their N-terminal domains) (PubMed:29420262). Interacts with FBXW11 and BTRC; associates with SCF E3 ubiquitin-protein ligase complexes (PubMed:29420262).
    SequenceCaution:
    • Sequence=BAA91771.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};

    Alternative splice isoforms for INAVA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INAVA Gene

Post-translational modifications for INAVA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for INAVA Gene

No data available for DME Specific Peptides for INAVA Gene

Domains & Families for INAVA Gene

Gene Families for INAVA Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for INAVA Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with INAVA: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for INAVA Gene

Function for INAVA Gene

Molecular function for INAVA Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Induction:
Expression is induced by the component of peptidoglycan muramyl dipeptide (PubMed:28436939). Negatively regulated by microRNA-24 (miR-24) (PubMed:28436939).

Phenotypes From GWAS Catalog for INAVA Gene

Gene Ontology (GO) - Molecular Function for INAVA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28436939
genes like me logo Genes that share ontologies with INAVA: view
genes like me logo Genes that share phenotypes with INAVA: view

Animal Models for INAVA Gene

MGI Knock Outs for INAVA:
  • Inava Inava<tm2a(EUCOMM)Wtsi>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for INAVA Gene

Localization for INAVA Gene

Subcellular locations from UniProtKB/Swiss-Prot for INAVA Gene

Nucleus. Cytoplasm. Note=Translocates to the nucleus upon NOD2 stimulation. {ECO:0000269 PubMed:28436939}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for INAVA gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for INAVA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IMP 28436939
GO:0005737 cytoplasm IMP 28436939
genes like me logo Genes that share ontologies with INAVA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for INAVA Gene

Pathways & Interactions for INAVA Gene

SuperPathways for INAVA Gene

No Data Available

Gene Ontology (GO) - Biological Process for INAVA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IMP 28436939
GO:0002221 pattern recognition receptor signaling pathway IMP 28436939
GO:0002367 cytokine production involved in immune response IMP 28436939
GO:0002376 immune system process IEA --
GO:0031398 positive regulation of protein ubiquitination IMP 29420262
genes like me logo Genes that share ontologies with INAVA: view

No data available for Pathways by source and SIGNOR curated interactions for INAVA Gene

Drugs & Compounds for INAVA Gene

No Compound Related Data Available

Transcripts for INAVA Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for INAVA Gene

No ASD Table

Relevant External Links for INAVA Gene

GeneLoc Exon Structure for
INAVA
ECgene alternative splicing isoforms for
INAVA

Expression for INAVA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of INAVA Gene:

INAVA

mRNA Expression by UniProt/SwissProt for INAVA Gene:

Q3KP66-INAVA_HUMAN
Tissue specificity: Highly expressed in intestinal myeloid-derived cells and expressed in monocyte-derived macrophages upon induction by PRR activation.
genes like me logo Genes that share expression patterns with INAVA: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for INAVA Gene

Orthologs for INAVA Gene

This gene was present in the common ancestor of animals.

Orthologs for INAVA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1orf106 34
  • 99 (a)
OneToOne
C1H1orf106 33
  • 96.8 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 85 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
mouse
(Mus musculus)
Mammalia 5730559C18Rik 34 33
  • 84.54 (n)
OneToOne
Inava 16
rat
(Rattus norvegicus)
Mammalia RGD1311892 33
  • 84.44 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf106 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C1orf106 34
  • 72 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C1orf106 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1ORF106 33
  • 63.56 (n)
C1orf106 34
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1orf106 34
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:ch211-163l21.4 33
  • 62.32 (n)
C8H1orf106 (2 of 2) 34
  • 36 (a)
OneToMany
C11H1orf106 (1 of 2) 34
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F07C6.4 34
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 8 (a)
OneToMany
Species where no ortholog for INAVA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for INAVA Gene

ENSEMBL:
Gene Tree for INAVA (if available)
TreeFam:
Gene Tree for INAVA (if available)

Paralogs for INAVA Gene

Paralogs for INAVA Gene

Pseudogenes.org Pseudogenes for INAVA Gene

genes like me logo Genes that share paralogs with INAVA: view

Variants for INAVA Gene

Sequence variations from dbSNP and Humsavar for INAVA Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000059611 -- 200,894,242(+) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000243829 -- 200,897,374(+) A/G intron_variant
rs1000307818 -- 200,897,559(+) A/G intron_variant
rs1000326230 -- 200,905,429(+) A/G intron_variant
rs1000336809 -- 200,899,269(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for INAVA Gene

Variant ID Type Subtype PubMed ID
esv2721362 CNV deletion 23290073
esv2721373 CNV deletion 23290073
esv2721384 CNV deletion 23290073
esv33174 CNV loss 17666407
esv3588563 CNV gain 21293372
nsv1012562 CNV gain 25217958
nsv1133931 CNV deletion 24896259
nsv548991 CNV gain 21841781
nsv946574 CNV duplication 23825009

Variation tolerance for INAVA Gene

Residual Variation Intolerance Score: 86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.61; 72.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INAVA Gene

Human Gene Mutation Database (HGMD)
INAVA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
INAVA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INAVA Gene

Disorders for INAVA Gene

MalaCards: The human disease database

(2) MalaCards diseases for INAVA Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
crohn's disease
  • ileitis
inflammatory bowel disease
  • inflammatory bowel diseases
- elite association - COSMIC cancer census association via MalaCards
Search INAVA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

INAVA_HUMAN
  • Note=Genetic variations in INAVA are associated with an increased risk of inflammatory bowel disease. A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology which is subdivided into Crohn disease and ulcerative colitis phenotypes. {ECO:0000269 PubMed:21983784, ECO:0000269 PubMed:28436939, ECO:0000269 PubMed:29420262}.

Additional Disease Information for INAVA

genes like me logo Genes that share disorders with INAVA: view

No data available for Genatlas for INAVA Gene

Publications for INAVA Gene

  1. C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions. (PMID: 29420262) Mohanan V … Xavier RJ (Science (New York, N.Y.) 2018) 2 3 4 58
  2. An inflammatory bowel disease-risk variant in INAVA decreases pattern recognition receptor-induced outcomes. (PMID: 28436939) Yan J … Abraham C (The Journal of clinical investigation 2017) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for INAVA Gene

Sources for INAVA Gene

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