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FLASH GENE

Symbol

VPS54

contributors: mct - updated : 29-08-2016

HGNC name	vacuolar protein sorting 54 (yeast)
HGNC id	18652

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2p15      Physical location : 64.119.667 - 64.246.214
Synonym name	tumor antigen SLP-8p
	hepatocellular carcinoma protein 8
	protein phosphatase 1, regulatory subunit 164
Synonym symbol(s)	HCC8, SLP-8p, VPS54L, PPP1R164, WR, hVps54L

DNA

TYPE	functioning gene
STRUCTURE	127.27 kb     22 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_001005739 23 - 3958 NP_001005739 - 965 - - NM_016516 23 - 3994 NP_057600 - 977 - -

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 Lymphoid/Immune lymph node         Nervous brain         Reproductive male system testis       Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cell lineage
cell lines	hepatocellular carcinoma
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a coiled-coil region
	eight to thirth dileucine motifs

HOMOLOGY

interspecies	homolog to murine Vps54
	homolog to rattus LOC289826

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic

basic FUNCTION	involved in intracellular protein sorting
	orchestrates retrograde transport from endosomes to the TGN by promoting vesicle tethering and assembly of SNARE complexes in consecutive, independent steps
	vesicular sorting protein involved in the retrograde traffic
	Golgi-associated retrograde protein (GARP) complex, which functions in endosome-to-Golgi retrograde vesicular transport, as a critical player in sphingolipid homeostasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

TSSC1 is required for efficient recruitment of GARP (composed of ANG2, VPS52, VPS53 and VPS54 subunits) to the TGN

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Vps54 null mutation in mouse causes embryonic lethality, which is associated with extensive membrane blebbing in the neural tube and is most likely a consequence of impaired vesicle transport