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FLASH GENE

Symbol

VPS11

contributors: mct - updated : 05-07-2017

HGNC name	vacuolar protein sorting 11 homolog (S. cerevisiae)
HGNC id	14583

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HLD12 hypomyelinating leukodystrophy-12
Location	11q23.3      Physical location : 118.938.492 - 118.952.686
Synonym name	vacuolar protein sorting 11 (yeast homolog)
	RING finger protein 108
Synonym symbol(s)	END1, PEP5, RNF108, PP3476, hVPS11, HLD12

DNA

TYPE	functioning gene
STRUCTURE	14.23 kb     16 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_021729 16 - 3279 NP_068375 107.7 941 - 2001 11250079 NM_001290185 16 - 3486 NP_001277114 - 931 - 2001 11250079

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 Visual eye retina       Other species Fetal

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)     Other species Fetal

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Other species Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		globular
STRUCTURE

motifs/domains	a 7-fold repeat common to clathrin and VPS proteins (two repeats)
	an ATP/GTP binding site
	a RING zinc finger motif
	VPS11 C-terminal domain is a key integrator of VPS-C complex assembly, RAB signaling, and endosomal and lysosomal traffic

HOMOLOGY

Homologene

FAMILY

VPS11 family

CATEGORY

transport carrier

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

basic FUNCTION	delivery of protein to lysosomes
	is not required for normal retinal development or initiation of melanin biosynthesis, but is required for melanosome maturation and healthy maintenance of the RPE and photoreceptors (PMId: 21622697)
	is involved in regulation of glycolipid degradation and retrograde toxin transport

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP binding

protein	ECM29 binding VPS11, RAB11FIP4, and rabaptin
	VPS18 N-terminal domain can interact with the N-terminal part of VPS11 and also binds to lipids

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HLD12

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   leads to an impaired autophagic activity in human cells

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS