VPS35 (VPS35 retromer complex component)

2012-02-01  

Identity

HGNC
LOCATION
16q11.2
LOCUSID
ALIAS
MEM3,PARK17
FUSION GENES

Other Information

Locus ID:

NCBI: 55737
MIM: 601501
HGNC: 13487
Ensembl: ENSG00000069329

Variants:

dbSNP: 55737
ClinVar: 55737
TCGA: ENSG00000069329
COSMIC: VPS35

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000069329ENST00000299138Q96QK1
ENSG00000069329ENST00000568612I3L4S0
ENSG00000069329ENST00000568784H3BRJ7
ENSG00000069329ENST00000640313A0A1W2PP10
ENSG00000069329ENST00000647959A0A3B3ITD4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
WNT ligand biogenesis and traffickingREACTOMER-HSA-3238698

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
217634832011A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.278
217634822011VPS35 mutations in Parkinson disease.263
195315832009Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5.135
248193842014Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy.132
178911542007Functional architecture of the retromer cargo-recognition complex.108
206196552010Vps35 mediates vesicle transport between the mitochondria and peroxisomes.93
266187222016Parkinson's disease-associated mutant VPS35 causes mitochondrial dysfunction by recycling DLP1 complexes.83
171017782007Interchangeable but essential functions of SNX1 and SNX2 in the association of retromer with endosomes and the trafficking of mannose 6-phosphate receptors.81
225130872012Multiple repeat elements within the FAM21 tail link the WASH actin regulatory complex to the retromer.71
241521212014The Vps35 D620N mutation linked to Parkinson's disease disrupts the cargo sorting function of retromer.68

Citation

Dessen P

VPS35 (VPS35 retromer complex component)

Atlas Genet Cytogenet Oncol Haematol. 2012-02-01

Online version: http://atlasgeneticsoncology.org/gene/52597/vps35