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FLASH GENE

Symbol

VPS41

contributors: mct - updated : 21-11-2022

HGNC name	vacuolar protein sorting 41 homolog (S. cerevisiae)
HGNC id	12713

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCAR29 spinocerebellar ataxia, autosomal recessive 29
Location	7p14.1      Physical location : 38.763.543 - 38.948.800
Synonym name	vacuolar protein sorting 41 (yeast homolog)
Synonym symbol(s)	HVSP41, S53, HVPS41, SCAR29, hVps41p

DNA

TYPE	functioning gene
STRUCTURE	186.22 kb     29 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014396 29 - 5854 NP_055211 98.5 854 - 2021 33851776 NM_080631 26 initiation site 5779 NP_542198 - 829 - 2021 33851776 downstream initiation site, same reading frame

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Nervous brain         Reproductive male system prostate       Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 7-fold repeat common to clathrin and VPS proteins (two repeats)
	an ATP/GTP site
	a RING zinc finger motif

HOMOLOGY

Homologene

FAMILY

VPS41 family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,cytoplasm,cytoskeleton,microtubule
text	intracellular vesicles that originated from Golgi and shoned partial coincidence with the delta subunit of adaptor protein complex-3

basic FUNCTION	formation and fusion of transport vesicles from the Golgi
	both VPS41 and VPS39 are required for late endosomal-lysosomal fusion events and the delivery of endocytic cargo to lysosomes in human cells
	VPS41 and VAMP7 are specifically involved in the fusion of trans-Golgi network-derived lysosome-associated membrane protein carriers with late endosomes
	self-assembly of VPS41 promotes sorting required for biogenesis of the regulated secretory pathway
	VPS41 is required for insulin secretory granules (SGs) biogenesis and regulated insulin secretion, and contributes to glucose homeostasis and metabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein

WDR91 competes with the VPS41 subunit of the HOPS complex, another RAB7 effector, for binding to RAB7, thereby facilitating RAB7-dependent lysosome fusion in a controlled manner

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCAR29

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mice with a deletion of Vps41 specifically in beta-cells develop diabetes due to severe depletion of insulin SG content and a defect in insulin secretion