Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	148022
Gene name Gene Name - the full gene name approved by the HGNC.	TIR domain containing adaptor molecule 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TICAM1
Synonyms (NCBI Gene) Gene synonyms aliases	IIAE6, MyD88-3, PRVTIRB, TICAM-1, TRIF
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	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 compo

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143679494	C>A,T	Likely-benign, risk-factor	Missense variant, coding sequence variant
rs387907307	G>A,C	Risk-factor	Stop gained, coding sequence variant, missense variant
rs1555730283	G>A	Risk-factor	Coding sequence variant, missense variant

Show/Hide all(2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005475	hsa-miR-221-3p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21236259
MIRT041391	hsa-miR-193b-3p	CLASH	23622248

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
SP1	Repression	14960149
TRAF6	Unknown	14530355;20047764

Show/Hide all(80)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002224	Process	Toll-like receptor signaling pathway	IDA	12471095
GO:0002281	Process	Macrophage activation involved in immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002735	Process	Positive regulation of myeloid dendritic cell cytokine production	IEA
GO:0002735	Process	Positive regulation of myeloid dendritic cell cytokine production	ISS
GO:0002756	Process	MyD88-independent toll-like receptor signaling pathway	IEA
GO:0005515	Function	Protein binding	IPI	14982987, 15142865, 15841462, 19416887, 21903422, 22948160, 25736436, 33961781, 36232715
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IDA	18222170
GO:0005769	Component	Early endosome	IDA	17982077
GO:0005776	Component	Autophagosome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006809	Process	Nitric oxide biosynthetic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0010008	Component	Endosome membrane	IDA	18222170
GO:0010008	Component	Endosome membrane	TAS
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0010508	Process	Positive regulation of autophagy	ISS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0019901	Function	Protein kinase binding	IPI	14530355
GO:0030890	Process	Positive regulation of B cell proliferation	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031663	Process	Lipopolysaccharide-mediated signaling pathway	IEA
GO:0032481	Process	Positive regulation of type I interferon production	IBA
GO:0032481	Process	Positive regulation of type I interferon production	IDA	14703513, 19898473
GO:0032481	Process	Positive regulation of type I interferon production	IDA	28049150
GO:0032481	Process	Positive regulation of type I interferon production	IEA
GO:0032481	Process	Positive regulation of type I interferon production	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032722	Process	Positive regulation of chemokine production	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032816	Process	Positive regulation of natural killer cell activation	IEA
GO:0034138	Process	Toll-like receptor 3 signaling pathway	IDA	12471095
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	18222170, 25636800, 28747347
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	12471095
GO:0035591	Function	Signaling adaptor activity	IBA
GO:0035591	Function	Signaling adaptor activity	IEA
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	IBA
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	IEA
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	IMP	25636800
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	ISS
GO:0042100	Process	B cell proliferation	IEA
GO:0042113	Process	B cell activation	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	HMP	12761501
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	14982987
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	ISS
GO:0043254	Process	Regulation of protein-containing complex assembly	IEA
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0043330	Process	Response to exogenous dsRNA	IMP	21266579
GO:0043330	Process	Response to exogenous dsRNA	ISS
GO:0045087	Process	Innate immune response	IEA
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IEA
GO:0050871	Process	Positive regulation of B cell activation	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0060090	Function	Molecular adaptor activity	IDA	12471095
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0060907	Process	Positive regulation of macrophage cytokine production	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	ISS
GO:0097190	Process	Apoptotic signaling pathway	IEA
GO:0097342	Component	Ripoptosome	IDA	21737330
GO:0140052	Process	Cellular response to oxidised low-density lipoprotein particle stimulus	IEA
GO:0140052	Process	Cellular response to oxidised low-density lipoprotein particle stimulus	ISS
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	IEA
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	ISS

MIM	HGNC	e!Ensembl
607601	18348	ENSG00000127666

Protein

UniProt ID

Q8IUC6

Protein name

TIR domain-containing adapter molecule 1 (TICAM-1) (Proline-rich, vinculin and TIR domain-containing protein B) (Putative NF-kappa-B-activating protein 502H) (Toll-interleukin-1 receptor domain-containing adapter protein inducing interferon beta) (MyD88-3

Protein function

Involved in innate immunity against invading pathogens. Adapter used by TLR3, TLR4 (through TICAM2) and TLR5 to mediate NF-kappa-B and interferon-regulatory factor (IRF) activation, and to induce apoptosis (PubMed:12471095, PubMed:12539043, PubM

PDB

2M1X , 2M63 , 3RC4 , 4BSX , 4C0M , 5JEL , 9DK8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17798	TRIF-NTD	1 → 148	TRIF N-terminal domain	Domain
PF12721	RHIM	642 → 697	RIP homotypic interaction motif	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed but with higher levels in liver. {ECO:0000269|PubMed:12471095, ECO:0000269|PubMed:12539043}.

Sequence

MACTGPSLPSAFDILGAAGQDKLLYLKHKLKTPRPGCQGQDLLHAMVLLKLGQETEARIS
LEALKADAVARLVARQWAGVDSTEDPEEPPDVSWAVARLYHLLAEEKLCPASLRDVAYQE
AVRTLSSRDDHRLGELQDEARNRCGWDIAGDPGSIRTLQSNLGCLPPSSALPSGTRSLPR
PIDGVSDWSQGCSLRSTGSPASLASNLEISQSPTMPFLSLHRSPHGPSKLCDDPQASLVP
EPVPGGCQEPEEMSWPPSGEIASPPELPSSPPPGLPEVAPDATSTGLPDTPAAPETSTNY
PVECTEGSAGPQSLPLPILEPVKNPCSVKDQTPLQLSVEDTTSPNTKPCPPTPTTPETSP
PPPPPPPSSTPCSAHLTPSSLFPSSLESSSEQKFYNFVILHARADEHIALRVREKLEALG
VPDGATFCEDFQVPGRGELSCLQDAIDHSAFIILLLTSNFDCRLSLHQVNQAMMSNLTRQ
GSPDCVIPFLPLESSPAQLSSDTASLLSGLVRLDEHSQIFARKVANTFKPHRLQARKAMW
RKEQDTRALREQSQHLDGERMQAAALNAAYSAYLQSYLSYQAQMEQLQVAFGSHMSFGTG
APYGARMPFGGQVPLGAPPPFPTWPGCPQPPPLHAWQAGTPPPPSPQPAAFPQSLPFPQS
PAFPTASPAPPQSPGLQPLIIHHAQMVQLGLNNHMWNQRGSQAPEDKTQEAE

Sequence length

712

Interactions

View interactions

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Carcinoma	Basal cell carcinoma	N/A	N/A	GWAS
Encephalitis	herpes simplex encephalitis, susceptibility to, 4	N/A	N/A	GenCC
Hypothyroidism	Hypothyroidism	N/A	N/A	GWAS
Vitiligo	Vitiligo	N/A	N/A	GWAS

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Autism Spectrum Disorder	Associate	37168851
Breast Neoplasms	Associate	31287789
Carcinoma Basal Cell	Associate	34278484
Carcinoma Squamous Cell	Associate	22808251
Colorectal Neoplasms	Associate	34689394
Diabetes Mellitus Type 2	Associate	20067962
Down Syndrome	Associate	31611734
Encephalitis	Stimulate	29116594
Encephalitis Herpes Simplex	Associate	22105173
Esophageal Neoplasms	Associate	36588538
Hepatitis Alcoholic	Associate	24997224
Immunologic Deficiency Syndromes	Inhibit	22105173
Infections	Associate	37071125
Inflammation	Associate	20360984, 28052863, 35933370
Mitochondrial Diseases	Associate	34278484
Mucocutaneous Lymph Node Syndrome	Associate	25780885
Multiple Myeloma	Associate	29214775
Myelodysplastic Syndromes	Associate	37071125
Neoplasms	Associate	36588538
Papillomavirus Infections	Associate	33164635
Pre Eclampsia	Associate	31477211
Pulmonary Disease Chronic Obstructive	Inhibit	26498252
Thromboangiitis Obliterans	Associate	38640750
Thyroid Cancer Papillary	Associate	27207655
Thyroid Neoplasms	Associate	35546566
Wilms Tumor	Associate	35933370

TICAM1 (TIR domain containing adaptor molecule 1)