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FLASH GENE

Symbol

VPS39

contributors: mct - updated : 21-11-2022

HGNC name	vacuolar protein sorting 39 (yeast)
HGNC id	20593

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015289 25 - 4851 NP_056104 - 875 - 2009 19109425 NM_001301138 26 - 4865 NP_001288067 - 886 - 2009 19109425

EXPRESSION

Type	ubiquitous

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 Lymphoid/Immune lymph node       highly   spleen       highly Urinary bladder       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

intraspecies

homolog to TRAP1

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome

basic FUNCTION	may be promoting clustering and fusion of late endosomes and lysosomes
	modulating the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway
	regulating the balance of SMAD2 and SMAD3 signaling by localizing SMAD4 intracellularly, thus contributing to cellular specificity of TGF-beta transcriptional responses
	TBC1D15 and and VPS39 regulate lysosomal morphology and play a role in maintaining growth factor dependence
	with TGFBRAP1, are nonredundant and essentially
	required for early embryonic development
	cytoplasmic protein involved in lysosomal processing as a novel interactor with Merkel cell polyomavirus large T (LT) oncoprotein
	both VPS41 and VPS39 are required for late endosomal-lysosomal fusion events and the delivery of endocytic cargo to lysosomes in human cells
	is a novel player in ethanolamine-stimulated phosphatidylethanolamine (PE) transport to the mitochondria
	acts as a negative regulator of ciliogenesis in human renal cells, by controlling the localization of the intraflagellar transport 20 protein at the base of cilia through autophagy
	is an important regulator of myoblast differentiation and muscle glucose uptake

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

SGPL1 upregulation stimulates VPS39 recruitment to the mitochondria, thereby enhancing mitochondria-lysosome contacts

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in myoblasts and myotubes from individuals with T2D

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed diabete type 2   VPS39 thereby offers a therapeutic target for T2D

ANIMAL & CELL MODELS