TRAPPC9 (trafficking protein particle complex subunit 9)

2007-04-01  

Identity

HGNC
LOCATION
8q24.3
LOCUSID
ALIAS
IBP,IKBKBBP,MRT13,NIBP,T1,TRS120
FUSION GENES

Other Information

Locus ID:

NCBI: 83696
MIM: 611966
HGNC: 30832
Ensembl: ENSG00000167632

Variants:

dbSNP: 83696
ClinVar: 83696
TCGA: ENSG00000167632
COSMIC: TRAPPC9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167632ENST00000389328Q96Q05
ENSG00000167632ENST00000438773Q96Q05
ENSG00000167632ENST00000520857H0YBR0
ENSG00000167632ENST00000634178A0A0J9YWK7
ENSG00000167632ENST00000648948Q96Q05

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

References

Pubmed IDYearTitleCitations
209669692010TRAPP complexes in membrane traffic: convergence through a common Rab.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
200047632009A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.49
200047652009Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.45
159514412005NIBP, a novel NIK and IKK(beta)-binding protein that enhances NF-(kappa)B activation.44
218580812011The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.26
222795572012TRAPPC9 mediates the interaction between p150 and COPII vesicles at the target membrane.17
225494102013TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.14
229895262012A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.12
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11

Citation

Dessen P

TRAPPC9 (trafficking protein particle complex subunit 9)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47452/trappc9