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INAVA innate immunity activator [ Homo sapiens (human) ]

Gene ID: 55765, updated on 23-Nov-2023

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 nucleus. Implicated in inflammatory bowel disease 29. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in small intestine (RPKM 20.8), duodenum (RPKM 17.6) and 11 other tissues See more
Orthologs
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Genomic context

See INAVA in Genome Data Viewer
Location:
1q32.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (200891531..200915742)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (200148514..200172675)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (200860659..200884870)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:200842161-200842803 Neighboring gene ribosomal protein L34 pseudogene 6 Neighboring gene MPRA-validated peak649 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1679 Neighboring gene G protein-coupled receptor 25 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:200859988-200860816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:200863922-200864432 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:200864433-200864944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:200864945-200865455 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:200866179-200866766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:200866767-200867356 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1682 Neighboring gene RNA, U6 small nuclear 704, pseudogene Neighboring gene maestro heat like repeat family member 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2304 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:200945792-200946991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2305 Neighboring gene kinesin family member 21B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:200969230-200969730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:200985675-200986222 Neighboring gene Sharpr-MPRA regulatory region 10908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2306 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:200991037-200991644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1685

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ10901, MGC125608

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

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)

  1. NM_001142569.3NP_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:8131
    DUF3338; Domain of unknown function (DUF3338)
  2. NM_001367289.1NP_001354218.1  innate immunity activator protein isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC099756
    UniProtKB/TrEMBL
    A0A8V8N8P9
    Conserved Domains (1) summary
    pfam11819
    Location:2130
    DUF3338; Domain of unknown function (DUF3338)
  3. NM_001367290.1NP_001354219.1  innate immunity activator protein isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC099756
  4. NM_018265.4NP_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:87215
    DUF3338; Domain of unknown function (DUF3338)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    200891531..200915742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    200148514..200172675
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)