VPS29 (VPS29 retromer complex component)

2014-11-01  

Identity

HGNC
LOCATION
12q24.11
LOCUSID
ALIAS
DC15,DC7,PEP11
FUSION GENES

Other Information

Locus ID:

NCBI: 51699
MIM: 606932
HGNC: 14340
Ensembl: ENSG00000111237

Variants:

dbSNP: 51699
ClinVar: 51699
TCGA: ENSG00000111237
COSMIC: VPS29

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111237ENST00000360579Q9UBQ0
ENSG00000111237ENST00000360579A0A384MR19
ENSG00000111237ENST00000447578Q05DG7
ENSG00000111237ENST00000546588F8VXU5
ENSG00000111237ENST00000549578Q9UBQ0
ENSG00000111237ENST00000549970Q05DG7
ENSG00000111237ENST00000552130Q05DG7
ENSG00000111237ENST00000621131F8VXU5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

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
195315832009Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5.135
178911542007Functional architecture of the retromer cargo-recognition complex.108
171017782007Interchangeable but essential functions of SNX1 and SNX2 in the association of retromer with endosomes and the trafficking of mannose 6-phosphate receptors.81
288920792017Retriever is a multiprotein complex for retromer-independent endosomal cargo recycling.50
157884122005Crystal structure of human vacuolar protein sorting protein 29 reveals a phosphodiesterase/nuclease-like fold and two protein-protein interaction sites.24
216296662011VPS29 is not an active metallo-phosphatase but is a rigid scaffold required for retromer interaction with accessory proteins.17
291469122017Structural insights into Legionella RidL-Vps29 retromer subunit interaction reveal displacement of the regulator TBC1D5.14
167374432006The human Vps29 retromer component is a metallo-phosphoesterase for a cation-independent mannose 6-phosphate receptor substrate peptide.13
254751422015Genetic variability of the retromer cargo recognition complex in parkinsonism.12
246847912014Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease.11

Citation

Dessen P

VPS29 (VPS29 retromer complex component)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75632/vps29