TICAM1 TIR domain containing adaptor molecule 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TICAM1provided by HGNC
Official Full Name: TIR domain containing adaptor molecule 1provided by HGNC
Primary source: HGNC:HGNC:18348
See related: Ensembl:ENSG00000127666 MIM:607601; AllianceGenome:HGNC:18348
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TRIF; IIAE6; MyD88-3; PRVTIRB; TICAM-1
Summary: This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. Mutations in this gene are associated with encephalopathy, acute, infection-induced. [provided by RefSeq, Jul 2020]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Expression: Ubiquitous expression in esophagus (RPKM 10.4), duodenum (RPKM 6.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (4815932..4831712, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (4801397..4817189, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (4815944..4831724, complement)

Chromosome 19 - NC_000019.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association between polymorphisms in TLR3, TICAM1 and IFNA1 genes and covid-19 severity in Southern Brazil.
Title: Association between polymorphisms in TLR3, TICAM1 and IFNA1 genes and covid-19 severity in Southern Brazil.
[Association of gene polymorphisms of MyD88 and TICAM1 and their interactions with community-acquired pneumonia in children].
Title: [Association of gene polymorphisms of MyD88 and TICAM1 and their interactions with community-acquired pneumonia in children].
Bacterial vesicles block viral replication in macrophages via TLR4-TRIF-axis.
Title: Bacterial vesicles block viral replication in macrophages via TLR4-TRIF-axis.
Pathogenic Leptospires Limit Dendritic Cell Activation Through Avoidance of TLR4 and TRIF Signaling.
Title: Pathogenic Leptospires Limit Dendritic Cell Activation Through Avoidance of TLR4 and TRIF Signaling.
MicroRNA-181b-2 and MicroRNA-21-1 Negatively Regulate NF-kappaB and IRF3-Mediated Innate Immune Responses via Targeting TRIF in Teleost.
Title: MicroRNA-181b-2 and MicroRNA-21-1 Negatively Regulate NF-κB and IRF3-Mediated Innate Immune Responses via Targeting TRIF in Teleost.
Correlation between TICAM1 gene polymorphisms and community-acquired pneumonia in children.
Title: Correlation between TICAM1 gene polymorphisms and community-acquired pneumonia in children.
TLR4 and CD14 trafficking and its influence on LPS-induced pro-inflammatory signaling.
Title: TLR4 and CD14 trafficking and its influence on LPS-induced pro-inflammatory signaling.
Evolutionary model of protein secondary structure capable of revealing new biological relationships.
Title: Evolutionary model of protein secondary structure capable of revealing new biological relationships.
New insights in acetaminophen toxicity: HMGB1 contributes by itself to amplify hepatocyte necrosis in vitro through the TLR4-TRIF-RIPK3 axis.
Title: New insights in acetaminophen toxicity: HMGB1 contributes by itself to amplify hepatocyte necrosis in vitro through the TLR4-TRIF-RIPK3 axis.
TIR-domain-containing adapter-inducing interferon-beta contributes to TLR3/TLR4 triggered apoptosis and inflammation in nucleus pulposus cells.
Title: TIR-domain-containing adapter-inducing interferon-β contributes to TLR3/TLR4 triggered apoptosis and inflammation in nucleus pulposus cells.

Submit: New GeneRIF Correction See all GeneRIFs (92)

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
Herpes simplex encephalitis, susceptibility to, 4 MedGen: C3553869 OMIM: 614850 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. 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

SGC34257 (e-PCR)
- UniSTS:9241

STS-R73446 (e-PCR)
- UniSTS:35071

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in B cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in TRIF-dependent toll-like receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in TRIF-dependent toll-like receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in TRIF-dependent toll-like receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to oxidised low-density lipoprotein particle stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in lipopolysaccharide-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in macrophage activation involved in immune response	IEA Inferred from Electronic Annotation more info
involved_in nitric oxide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of B cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of autophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of canonical NF-kappaB signal transduction	HMP more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of chemokine production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytokine production involved in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interferon-beta production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-6 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of macrophage cytokine production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of myeloid dendritic cell cytokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of natural killer cell activation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of nitric oxide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of type I interferon production	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of type I interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein-containing complex assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to exogenous dsRNA	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to exogenous dsRNA	ISS Inferred from Sequence or Structural Similarity more info
involved_in toll-like receptor 3 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in toll-like receptor 4 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in toll-like receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in autophagosome	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in early endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	TAS Traceable Author Statement more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
part_of ripoptosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: TIR domain-containing adapter molecule 1

Names: TIR domain containing adaptor inducing interferon-beta; TIR domain-containing adapter protein inducing IFN-beta; proline-rich, vinculin and TIR domain-containing protein B; putative NF-kappa-B-activating protein 502H; toll like receptor adaptor molecule 1; toll-interleukin-1 receptor domain-containing adapter protein inducing interferon beta

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.

Genomic

NG_031998.1 RefSeqGene

Range

5001..20819

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_358

mRNA and Protein(s)

NM_001385678.1 → NP_001372607.1 TIR domain-containing adapter molecule 1 isoform 2

Status: REVIEWED

Source sequence(s)

AC027319

Conserved Domains (3) summary

pfam12721
Location:642 → 683

RHIM; RIP homotypic interaction motif

pfam17798
Location:3 → 134

TRIF-NTD; TRIF N-terminal domain

cl23749
Location:385 → 513

TIR_2; TIR domain
NM_001385679.1 → NP_001372608.1 TIR domain-containing adapter molecule 1 isoform 3

Status: REVIEWED

Source sequence(s)

AC027319

Conserved Domains (3) summary

pfam12721
Location:611 → 652

RHIM; RIP homotypic interaction motif

pfam17798
Location:1 → 103

TRIF-NTD; TRIF N-terminal domain

cl23749
Location:354 → 482

TIR_2; TIR domain
NM_001385680.1 → NP_001372609.1 TIR domain-containing adapter molecule 1 isoform 4

Status: REVIEWED

Source sequence(s)

AC027319

Conserved Domains (2) summary

pfam12721
Location:446 → 483

RHIM; RIP homotypic interaction motif

cl23749
Location:185 → 313

TIR_2; TIR domain
NM_182919.4 → NP_891549.1 TIR domain-containing adapter molecule 1 isoform 1

See identical proteins and their annotated locations for NP_891549.1

Status: REVIEWED

Source sequence(s)

AB086380, BC035331, BX349282, DR000002

Consensus CDS

CCDS12136.1

UniProtKB/Swiss-Prot

B3Y691, O75532, Q86XP8, Q8IUC6, Q96GA0

Related

ENSP00000248244.4, ENST00000248244.6

Conserved Domains (2) summary

pfam12721
Location:654 → 696

RHIM; RIP homotypic interaction motif

cl23749
Location:399 → 527

TIR_2; TIR domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

4815932..4831712 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

4801397..4817189 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_014261.1: Suppressed sequence

Description

NM_014261.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.