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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10293
Gene name	TRAF interacting protein
Gene symbol	TRAIP
Synonyms (NCBI Gene)	RNF206SCKL9TRIP
Chromosome	3
Chromosome location	3p21.31
Summary	This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction w

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs767664526	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs864622784	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant

Show/Hide all (24)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022218	hsa-miR-124-3p	Microarray	18668037
MIRT024554	hsa-miR-215-5p	Microarray	19074876
MIRT025570	hsa-miR-34a-5p	Proteomics	21566225
MIRT026188	hsa-miR-192-5p	Microarray	19074876
MIRT1451312	hsa-miR-3135	CLIP-seq
MIRT1451313	hsa-miR-3714	CLIP-seq
MIRT1451314	hsa-miR-4736	CLIP-seq
MIRT1451315	hsa-miR-548an	CLIP-seq
MIRT1451316	hsa-miR-940	CLIP-seq
MIRT2134924	hsa-miR-3620	CLIP-seq
MIRT2134925	hsa-miR-3622a-3p	CLIP-seq
MIRT2134926	hsa-miR-3622b-3p	CLIP-seq
MIRT2649653	hsa-miR-1286	CLIP-seq
MIRT2649654	hsa-miR-3660	CLIP-seq
MIRT2649655	hsa-miR-370	CLIP-seq
MIRT2649656	hsa-miR-4526	CLIP-seq
MIRT2649657	hsa-miR-492	CLIP-seq
MIRT2649658	hsa-miR-628-5p	CLIP-seq
MIRT2649653	hsa-miR-1286	CLIP-seq
MIRT2649654	hsa-miR-3660	CLIP-seq
MIRT2649655	hsa-miR-370	CLIP-seq
MIRT2649656	hsa-miR-4526	CLIP-seq
MIRT2649657	hsa-miR-492	CLIP-seq
MIRT2649658	hsa-miR-628-5p	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	17544371
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	17474147, 25416956, 26711499, 27462463, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	30165463
GO:0005654	Component	Nucleoplasm	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	27462463, 30165463
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006915	Process	Apoptotic process	TAS	9104814
GO:0006974	Process	DNA damage response	IDA	26711499, 27462463
GO:0006974	Process	DNA damage response	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	9104814
GO:0008270	Function	Zinc ion binding	IEA
GO:0010804	Process	Negative regulation of tumor necrosis factor-mediated signaling pathway	IDA	19151749
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IDA	17544371, 26711499
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031297	Process	Replication fork processing	IBA
GO:0031297	Process	Replication fork processing	IDA	26711499
GO:0031297	Process	Replication fork processing	IMP	27462463
GO:0032688	Process	Negative regulation of interferon-beta production	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0090734	Component	Site of DNA damage	IBA
GO:0090734	Component	Site of DNA damage	IDA	26711499, 30165463
GO:0106300	Process	Protein-DNA covalent cross-linking repair	ISS

MIM	HGNC	e!Ensembl
605958	30764	ENSG00000183763

Q9BWF2

Protein name

E3 ubiquitin-protein ligase TRAIP (EC 2.3.2.27) (RING finger protein 206) (TRAF-interacting protein)

Protein function

E3 ubiquitin ligase required to protect genome stability in response to replication stress (PubMed:25335891, PubMed:26595769, PubMed:26711499, PubMed:26781088, PubMed:27462463, PubMed:31545170). Acts as a key regulator of interstrand cross-link

PDB

4ZTD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13639	zf-RING_2	5 → 50	Ring finger domain	Domain

Sequence

MPIRALCTICSDFFDHSRDVAAIHCGHTFHLQCLIQWFETAPSRTCPQCRIQVGKRTIIN
KLFFDLAQEEENVLDAEFLKNELDNVRAQLSQKDKEKRDSQVIIDTLRDTLEERNATVVS
LQQALGKAEMLCSTLKKQMKYLEQQQDETKQAQEEARRLRSKMKTMEQIELLLQSQRPEV
EEMIRDMGVGQSAVEQLAVYCVSLKKEYENLKEARKASGEVADKLRKDLFSSRSKLQTVY
SELDQAKLELKSAQKDLQSADKEIMSLKKKLTMLQETLNLPPVASETVDRLVLESPAPVE
VNLKLRRPSFRDDIDLNATFDVDTPPARPSSSQHGYYEKLCLEKSHSPIQDVPKKICKGP
RKESQLSLGGQSCAGEPDEELVGAFPIFVRNAILGQKQPKRPRSESSCSKDVVRTGFDGL
GGRTKFIQPTDTVMIRPLPVKPKTKVKQRVRVKTVPSLFQAKLDTFLWS

Sequence length

469

Interactions

View interactions

	Reactome
			Antigen processing: Ubiquitination & Proteasome degradation

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Seckel syndrome 9	Pathogenic; Likely pathogenic	rs767664526, rs864622784, rs761742550	RCV000206973 RCV000206906 RCV003993565

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs9858428	RCV005914612
Cervical cancer	Uncertain significance	rs200749327	RCV005926583
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	rs181861135	RCV005909912
Clear cell carcinoma of kidney	Benign; Likely benign	rs181861135	RCV005909909
Familial cancer of breast	Benign; Likely benign	rs181861135	RCV005909907
Lung cancer	Benign; Likely benign	rs181861135	RCV005909911
Lymphoma	Benign; Likely benign	rs181861135	RCV005909910
Malignant lymphoma, large B-cell, diffuse	Benign	rs9858428	RCV005914613
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs181861135	RCV005909908
TRAIP-related disorder	Benign; Likely benign; Uncertain significance	rs529438671, rs778129131, rs780676622, rs774388805, rs143716103, rs144992965, rs145654028, rs181861135	RCV003936542 RCV003963678 RCV003961083 RCV003948905 RCV003928516 RCV003968291 RCV003960442 RCV003935891
Uterine carcinosarcoma	Benign	rs9858428	RCV005914614

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32121037
Arthritis Rheumatoid	Inhibit	27847407
Carcinogenesis	Associate	31972358
Carcinoma Basal Cell	Associate	21068752
Carcinoma Basal Cell	Inhibit	31972358
Carcinoma Hepatocellular	Associate	31972358
DNA Virus Infections	Associate	30165463
Dwarfism	Associate	26595769
Embryo Loss	Associate	21068752
Inflammation	Inhibit	27847407
Melanoma	Associate	32640040
Microcephaly	Associate	26595769
Neoplasms	Inhibit	31972358
Osteoarthritis Knee	Associate	37764718
Pituitary dwarfism 1	Associate	26595769, 37604812
Seckel syndrome 1	Associate	26595769, 30165463

TRAIP (TRAF interacting protein)