Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

VPS13C

contributors: mct - updated : 17-03-2016

HGNC name	vacuolar protein sorting 13 homolog C (S. cerevisiae)
HGNC id	23594

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PARK23 Parkinson disease 23, early-onset
Location	15q22.2      Physical location : 62.144.591 - 62.352.647
Synonym name	vacuolar protein sorting 13C (yeast)
Synonym symbol(s)	FLJ10381, FLJ20136, KIAA1421, DKFZp686E0570, FLJ21361

DNA

TYPE	functioning gene
STRUCTURE	208.06 kb     86 Exon(s)

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_017684 83 - 3710 NP_060154 - 3710 expressed in most tissues, including brain and peripheral blood cells 2016 26942284 also called variant 1A, lacking exons 6 and 7 exon 1 to 5 and 8 to 85 NM_020821 86 - 13400 NP_065872 - 3753 only in the brain, brain-specific 2016 26942284 also called variant 2A exon 1 to 85 NM_018080 82 - 11012 NP_060550 - 3585 - 2016 26942284 also called variant 1B, lacking the last four exons NM_001018088 82 - 11141 NP_001018098 - 3628 - 2016 26942284 also called variant 2B, lacking the last four exons

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       highly Endocrine pancreas       highly Lymphoid/Immune lymph node           spleen         Nervous brain       highly Reproductive female system ovary

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Connective adipose     highly

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a chorein domain at its N terminus,
	a DUF1162 domain of unknown function,
	a putative autophagy-related domain
	a lysin-rich motif

HOMOLOGY

Homologene

FAMILY

VPS13 family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	is located on the mitochondrial surface

basic FUNCTION	involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment (Saxena 2010)
	VPS13C might be involved in the machinery regulating cargo selection and sorting into vesicles
	like PINK1 and Parkin, VPS13C plays a role in mitochondrial maintenance

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PARK23

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function enhances mitochondrial accumulation of PINK1, recruitment of Parkin, and PARK2 upregulation in response to CCCP

Susceptibility

type 2 diabetes

Variant & Polymorphism other	changes in the expression of the type 2 diabetes-associated gene VPS13C in the beta-cell are associated with glucose intolerance

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

development of animal models in which VPS13C is stably inactivated will help dissect the mechanisms by which loss of VPS13C function affects the survival of dopaminergic neurons