VPS41 (VPS41 subunit of HOPS complex)

2016-10-01  

Identity

HGNC
LOCATION
7p14.1
LOCUSID
ALIAS
HVPS41,HVSP41,hVps41p
FUSION GENES

Other Information

Locus ID:

NCBI: 27072
MIM: 605485
HGNC: 12713
Ensembl: ENSG00000006715

Variants:

dbSNP: 27072
ClinVar: 27072
TCGA: ENSG00000006715
COSMIC: VPS41

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000006715ENST00000265745H7BXH3
ENSG00000006715ENST00000310301P49754
ENSG00000006715ENST00000395969P49754
ENSG00000006715ENST00000413141C9JU58
ENSG00000006715ENST00000414632C9J3F8
ENSG00000006715ENST00000418457C9JZ11
ENSG00000006715ENST00000439468H7C0K2
ENSG00000006715ENST00000448833H7BZX6
ENSG00000006715ENST00000457055C9J2U9

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
337644262021Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.22
338517762021Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.18
337644262021Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.22
338517762021Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.18
328086832020Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.39
328086832020Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.39
311946772019Vps8 overexpression inhibits HOPS-dependent trafficking routes by outcompeting Vps41/Lt.13
311946772019Vps8 overexpression inhibits HOPS-dependent trafficking routes by outcompeting Vps41/Lt.13
305082052018Distinct functional roles of Vps41-mediated neuroprotection in Alzheimer's and Parkinson's disease models of neurodegeneration.22
305082052018Distinct functional roles of Vps41-mediated neuroprotection in Alzheimer's and Parkinson's disease models of neurodegeneration.22
289317242017VPS18 recruits VPS41 to the human HOPS complex via a RING-RING interaction.12
289317242017VPS18 recruits VPS41 to the human HOPS complex via a RING-RING interaction.12
254455622014RILP interacts with HOPS complex via VPS41 subunit to regulate endocytic trafficking.33
254455622014RILP interacts with HOPS complex via VPS41 subunit to regulate endocytic trafficking.33
231679632013The HOPS proteins hVps41 and hVps39 are required for homotypic and heterotypic late endosome fusion.57

Citation

Dessen P

VPS41 (VPS41 subunit of HOPS complex)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56533/gene-fusions/gene-explorer/