• Gene id: 83696

Gene Summary

• Gene Symbol: TRAPPC9   Gene   UCSC   Ensembl
• Aliases: IBP, IKBKBBP, MRT13, NIBP, T1, TRS120
• Gene name: trafficking protein particle complex 9
• Alternate names: trafficking protein particle complex subunit 9, IKK2 binding protein, NIK and IKK-beta binding protein, NIK- and IKBKB-binding protein, TRAPP 120 kDa subunit, tularik gene 1 protein,
• Gene location: 8q24.3 (140458578: 139727724)     Exons: 31     NC_000008.11
• Gene summary(Entrez): This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb

Protein Summary

• Protein general information: Q96Q05  
  • Name: Trafficking protein particle complex subunit 9 (NIK and IKBKB binding protein) (Tularik gene 1 protein)
  • Length: 1148  
  • Mass: 128530
  • Tissue specificity: Expressed at high levels in muscle and kidney and to a lower extent in brain, heart and placenta. {ECO
• Sequence:

  MSVPDYMQCAEDHQTLLVVVQPVGIVSEENFFRIYKRICSVSQISVRDSQRVLYIRYRHHYPPENNEWGDFQTHR
  KVVGLITITDCFSAKDWPQTFEKFHVQKEIYGSTLYDSRLFVFGLQGEIVEQPRTDVAFYPNYEDCQTVEKRIED
  FIESLFIVLESKRLDRATDKSGDKIPLLCVPFEKKDFVGLDTDSRHYKKRCQGRMRKHVGDLCLQAGMLQDSLVH
  YHMSVELLRSVNDFLWLGAALEGLCSASVIYHYPGGTGGKSGARRFQGSTLPAEAANRHRPGAQEVLIDPGALTT
  NGINPDTSTEIGRAKNCLSPEDIIDKYKEAISYYSKYKNAGVIELEACIKAVRVLAIQKRSMEASEFLQNAVYIN
  LRQLSEEEKIQRYSILSELYELIGFHRKSAFFKRVAAMQCVAPSIAEPGWRACYKLLLETLPGYSLSLDPKDFSR
  GTHRGWAAVQMRLLHELVYASRRMGNPALSVRHLSFLLQTMLDFLSDQEKKDVAQSLENYTSKCPGTMEPIALPG
  GLTLPPVPFTKLPIVRHVKLLNLPASLRPHKMKSLLGQNVSTKSPFIYSPIIAHNRGEERNKKIDFQWVQGDVCE
  VQLMVYNPMPFELRVENMGLLTSGVEFESLPAALSLPAESGLYPVTLVGVPQTTGTITVNGYHTTVFGVFSDCLL
  DNLPGIKTSGSTVEVIPALPRLQISTSLPRSAHSLQPSSGDEISTNVSVQLYNGESQQLIIKLENIGMEPLEKLE
  VTSKVLTTKEKLYGDFLSWKLEETLAQFPLQPGKVATFTINIKVKLDFSCQENLLQDLSDDGISVSGFPLSSPFR
  QVVRPRVEGKPVNPPESNKAGDYSHVKTLEAVLNFKYSGGPGHTEGYYRNLSLGLHVEVEPSVFFTRVSTLPATS
  TRQCHLLLDVFNSTEHELTVSTRSSEALILHAGECQRMAIQVDKFNFESFPESPGEKGQFANPKQLEEERREARG
  LEIHSKLGICWRIPSLKRSGEASVEGLLNQLVLEHLQLAPLQWDVLVDGQPCDREAVAACQVGDPVRLEVRLTNR
  SPRSVGPFALTVVPFQDHQNGVHNYDLHDTVSFVGSSTFYLDAVQPSGQSACLGALLFLYTGDFFLHIRFHEDST
  SKELPPSWFCLPSVHVCALEAQA

• Structural information:
  • Interpro: IPR013935  
  • STRING: ENSP00000373979
• Other Databases: GeneCards:  TRAPPC9  Malacards:  TRAPPC9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0021987	cerebral cortex development	IMP	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0030008	TRAPP complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray