VPS41 (VPS41 subunit of HOPS complex)

2016-10-01  

Identity

HGNC
VPS41
LOCATION
7p14.1
LOCUSID
27072
ALIAS
HVPS41,HVSP41,hVps41p
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/js/lib/js/lib/bootstrap.min.js