Aliases for INAVA Gene

Aliases for INAVA Gene

  • Innate Immunity Activator 2 3 5
  • Innate Immunity Activator Protein 3 4
  • C1orf106 3 4
  • Chromosome 1 Open Reading Frame 106 2
  • 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 Inflammatory Bowel Disease 29 and Crohn's Disease. An important paralog of this gene is CCDC120.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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 0.3 ENCODE dbSUPER 750.6 -1.4 -1360 0 INAVA lnc-KIF21B-2
GH01J200890 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.5 +4.4 4362 10.4 SIN3A ZNF24 CTCF SREBF1 MLX RBPJ POLR2A NR2F6 CREB1 MIXL1 KIF14 DDX59 INAVA MROH3P ENSG00000234132 CSRP1 IGFN1 TMEM9
GH01J200915 Promoter/Enhancer 1.1 Ensembl ENCODE dbSUPER 11.4 +25.8 25811 1.9 CEBPG ZBTB33 PKNOX1 CEBPA GATAD2A NRF1 CTCF CEBPB ZNF143 NFIA MROH3P INAVA GPR25 ENSG00000234132 RF00026-097 RNU6-704P
GH01J200861 Enhancer 1 Ensembl ENCODE dbSUPER 11.4 -28.2 -28152 2.2 ZNF24 MYC RELA MAX MLLT1 ZNF687 IKZF1 TRIM22 IKZF2 PKNOX1 RPL34P6 lnc-CAMSAP2-2 INAVA CAMSAP2 DDX59-AS1 piR-48759-023
GH01J201043 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.7 +151.9 151911 1.1 CTCF CC2D1A HLF RAD21 SREBF1 CSDE1 ZIC2 ARID2 RFX1 REST MROH3P ENSG00000234132 CACNA1S ASCL5 INAVA IGFN1 HSALNG0009617 LOC101929305
- 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
chr1:200,891,048-200,915,742
(GRCh38/hg38)
Size:
24,695 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

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure 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

CRISPR 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 4
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

PathCards logo

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,IBA 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

CRISPR Products

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 33
  • 99 (a)
OneToOne
C1H1orf106 32
  • 96.8 (n)
dog
(Canis familiaris)
Mammalia -- 33
  • 85 (a)
OneToMany
-- 33
  • 71 (a)
OneToMany
mouse
(Mus musculus)
Mammalia 5730559C18Rik 33 32
  • 84.54 (n)
OneToOne
Inava 17
rat
(Rattus norvegicus)
Mammalia RGD1311892 32
  • 84.44 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf106 33
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C1orf106 33
  • 72 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C1orf106 33
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1ORF106 32
  • 63.56 (n)
C1orf106 33
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1orf106 33
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:ch211-163l21.4 32
  • 62.32 (n)
C8H1orf106 (2 of 2) 33
  • 36 (a)
OneToMany
C11H1orf106 (1 of 2) 33
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F07C6.4 33
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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
rs41313912 Inflammatory bowel disease 29 (IBD29) [MIM:618077] 200,908,898(+) A/G/T coding_sequence_variant, missense_variant
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

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

(5) MalaCards diseases for INAVA Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
inflammatory bowel disease 29
  • ibd29
crohn's disease
  • ileitis
inflammatory bowel disease
  • inflammatory bowel diseases
ulcerative colitis
  • left-sided ulcerative colitis
colitis
- 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
  • 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 variations affecting the gene represented in this entry.

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 56
  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 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  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 56
  5. INAVA-ARNO complexes bridge mucosal barrier function with inflammatory signaling. (PMID: 30355448) Luong P … Lencer WI (eLife 2018) 3 56

Products for INAVA Gene

Sources for INAVA Gene