• Gene id: 26146

Gene Summary

• Gene Symbol: TRAF3IP1   Gene   UCSC   Ensembl
• Aliases: FAP116, IFT54, MIP-T3, MIPT3, SLSN9
• Gene name: TRAF3 interacting protein 1
• Alternate names: TRAF3-interacting protein 1, TNF receptor-associated factor 3 interacting protein 1, interleukin 13 receptor alpha 1-binding protein-1, intraflagellar transport protein 54 homolog, microtubule interacting protein that associates with TRAF3, microtubule-interac,
• Gene location: 2q37.3 (238320488: 238400899)     Exons: 20     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response. Defects in this gene are a cause of Senior-Loken syndr
• OMIM: 607380

Protein Summary

• Protein general information: Q8TDR0  
  • Name: TRAF3 interacting protein 1 (Interleukin 13 receptor alpha 1 binding protein 1) (Intraflagellar transport protein 54 homolog) (Microtubule interacting protein associated with TRAF3) (MIP T3)
  • Length: 691  
  • Mass: 78632
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MNAAVVRRTQEALGKVIRRPPLTEKLLSKPPFRYLHDIITEVIRMTGFMKGLYTDAEMKSDNVKDKDAKISFLQK
  AIDVVVMVSGEPLLAKPARIVAGHEPERTNELLQIIGKCCLNKLSSDDAVRRVLAGEKGEVKGRASLTSRSQELD
  NKNVREEESRVHKNTEDRGDAEIKERSTSRDRKQKEELKEDRKPREKDKDKEKAKENGGNRHREGERERAKARAR
  PDNERQKDRGNRERDRDSERKKETERKSEGGKEKERLRDRDRERDRDKGKDRDRRRVKNGEHSWDLDREKNREHD
  KPEKKSASSGEMSKKLSDGTFKDSKAETETEISTRASKSLTTKTSKRRSKNSVEGRKEDNISAKSLDSIVSGINN
  EPNQETTTSEIGTKEANINSTSISDDNSASLRCENIQPNPTEKQKGDSTSDAEGDAGPAGQDKSEVPETPEIPNE
  LSSNIRRIPRPGSARPAPPRVKRQDSMEALQMDRSGSGKTVSNVITESHNSDNEEDDQFVVEAAPQLSEMSEIEM
  VTAVELEEEEKHGGLVKKILETKKDYEKLQQSPKPGEKERSLFESAWKKEKDIVSKEIEKLRTSIQTLCKSALPL
  GKIMDYIQEDVDAMQNELQMWHSENRQHAEALQQEQRITDCAVEPLKAELAELEQLIKDQQDKICAVKANILKNE
  EKIQKMVYSINLTSRR

• Structural information:
  • Interpro: IPR018799  IPR041476  IPR040468  IPR042576  
  • PDB: 2EQO
  • PDBsum: 2EQO
  • STRING: ENSP00000362424
• Other Databases: GeneCards:  TRAF3IP1  Malacards:  TRAF3IP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050687	negative regulation of defense response to virus	IMP	biological process
GO:0032480	negative regulation of type I interferon production	IMP	biological process
GO:0031333	negative regulation of protein-containing complex assembly	IMP	biological process
GO:0001933	negative regulation of protein phosphorylation	IMP	biological process
GO:0005813	centrosome	IBA	cellular component
GO:0005930	axoneme	IBA	cellular component
GO:0036064	ciliary basal body	IBA	cellular component
GO:0042073	intraciliary transport	IBA	biological process
GO:0060271	cilium assembly	IBA	biological process
GO:0030992	intraciliary transport particle B	IBA	cellular component
GO:0070507	regulation of microtubule cytoskeleton organization	IBA	biological process
GO:0097546	ciliary base	IDA	cellular component
GO:0097542	ciliary tip	IDA	cellular component
GO:0035869	ciliary transition zone	IDA	cellular component
GO:0001738	morphogenesis of a polarized epithelium	IDA	biological process
GO:0001822	kidney development	IMP	biological process
GO:0030992	intraciliary transport particle B	ISS	cellular component
GO:0070507	regulation of microtubule cytoskeleton organization	IMP	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0035735	intraciliary transport involved in cilium assembly	TAS	biological process
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060271	cilium assembly	IEA	biological process
GO:0050687	negative regulation of defense response to virus	IEA	biological process
GO:0036342	post-anal tail morphogenesis	IEA	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0035050	embryonic heart tube development	IEA	biological process
GO:0005930	axoneme	IEA	cellular component
GO:0005813	centrosome	IEA	cellular component
GO:0001738	morphogenesis of a polarized epithelium	IEA	biological process
GO:1901621	negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA	biological process
GO:0070507	regulation of microtubule cytoskeleton organization	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0032688	negative regulation of interferon-beta production	IEA	biological process
GO:0031076	embryonic camera-type eye development	IEA	biological process
GO:0030992	intraciliary transport particle B	IEA	cellular component
GO:0021532	neural tube patterning	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
Senior-Loken syndrome	KEGG:H00538
Senior-Loken syndrome	KEGG:H00538
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq