INAVA innate immunity activator [Homo sapiens (human)] - Gene

Summary

Official Symbol: INAVAprovided by HGNC
Official Full Name: innate immunity activatorprovided by HGNC
Primary source: HGNC:HGNC:25599
See related: Ensembl:ENSG00000163362 MIM:618051; AllianceGenome:HGNC:25599
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C1orf106
Summary: Involved in several processes, including nucleotide-binding activity oligomerization domain containing 2 signaling pathway; positive regulation of cytokine production; and positive regulation of intracellular signal transduction. Located in cytoplasm and nuclear body. Implicated in inflammatory bowel disease 29. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in small intestine (RPKM 20.8), duodenum (RPKM 17.6) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (200891531..200915742)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (200148514..200172675)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (200860659..200884870)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Small-molecule modulators of INAVA cytosolic condensate and cell-cell junction assemblies.
Title: Small-molecule modulators of INAVA cytosolic condensate and cell-cell junction assemblies.
Study identifies C1ORF106 as an epithelial cell junction protein, and the loss of C1ORF106 augments TNF-alpha-induced intestinal epithelial leakage and diarrhea that may play a critical role in the development of inflammatory bowel disease.
Title: Inflammatory Bowel Disease Susceptibility Gene C1ORF106 Regulates Intestinal Epithelial Permeability.
INAVA-CUPID exhibits dual functions, coordinated directly by ARNO, that bridge epithelial barrier function with extracellular signals and inflammation.
Title: INAVA-ARNO complexes bridge mucosal barrier function with inflammatory signaling.
C1orf106 regulates adherens junction stability by regulating the degradation of cytohesin-1, a guanine nucleotide exchange factor that controls activation of ARF6.
Title: C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions.
IBD-associated polymorphisms in INAVA modulate PRR-initiated signaling, cytokines, and intracellular bacterial clearance, likely contributing to intestinal immune homeostasis.
Title: An inflammatory bowel disease-risk variant in INAVA decreases pattern recognition receptor-induced outcomes.
Results found that CpG sites of C1orf106, DMBX1, and SIK3 mediate the genetic risk of psoriasis in Chinese Han population.
Title: Epigenome-wide association data implicates DNA methylation-mediated genetic risk in psoriasis.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Inflammatory bowel disease 29 MedGen: C4748083 OMIM: 618077 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65506 (e-PCR)
- UniSTS:84359

SHGC-148222 (e-PCR)
- UniSTS:176268

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adherens junction maintenance	IBA Inferred from Biological aspect of Ancestor more info
involved_in adherens junction maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intestinal epithelial structure maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pattern recognition receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokine production involved in immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-10 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-6 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of stress-activated MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reactive oxygen species biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to muramyl dipeptide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to peptidoglycan	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: innate immunity activator protein

Names: uncharacterized protein C1orf106

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001142569.3 → NP_001136041.1 innate immunity activator protein isoform 2

See identical proteins and their annotated locations for NP_001136041.1

Status: VALIDATED

Source sequence(s)

AC099756, AK001583, AK303885, AK316510

Consensus CDS

CCDS44292.1

UniProtKB/TrEMBL

A0A8V8N8P9

Related

ENSP00000392105.2, ENST00000413687.3

Conserved Domains (1) summary

pfam11819
Location:8 → 131

DUF3338; Domain of unknown function (DUF3338)
NM_001367289.1 → NP_001354218.1 innate immunity activator protein isoform 3

Status: VALIDATED

Source sequence(s)

AC099756

UniProtKB/TrEMBL

A0A8V8N8P9

Conserved Domains (1) summary

pfam11819
Location:2 → 130

DUF3338; Domain of unknown function (DUF3338)
NM_001367290.1 → NP_001354219.1 innate immunity activator protein isoform 4

Status: VALIDATED

Source sequence(s)

AC099756
NM_018265.4 → NP_060735.4 innate immunity activator protein isoform 1

Status: VALIDATED

Source sequence(s)

AC099756, AK001583, AK001763, BP357953

UniProtKB/Swiss-Prot

B4E1K9, E9PFY0, Q3KP66, Q9NV65, Q9NVI0

UniProtKB/TrEMBL

A0A8V8N8P9

Related

ENSP00000356311.5, ENST00000367342.8

Conserved Domains (1) summary

pfam11819
Location:87 → 215

DUF3338; Domain of unknown function (DUF3338)