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FLASH GENE

Symbol

ASPSCR1

contributors: mct - updated : 08-09-2020

HGNC name	alveolar soft part sarcoma chromosome region, candidate 1
HGNC id	13825

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ASPS alveolar soft-part sarcoma
Location	17q25.3      Physical location : 79.935.425 - 79.975.280
Synonym name	renal cell carcinoma gene on chromosome 17
	tether containing an UBX domain
Synonym symbol(s)	ASPL, RCC17, ASPCR1, ASPS, TUG, UBXD9, UBXN9, FLJ45380

DNA

TYPE	functioning gene
STRUCTURE	40.12 kb     12 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_001251888 17 - 2046 NP_001238817 - 647 - 2003 14562105 NM_024083 16 - 1764 NP_076988 - 553 - 2003 14562105 NM_001330528 15 - 1783 NP_001317457 - 501 - 2003 14562105

EXPRESSION

Type

widely

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 blood / hematopoietic spleen       highly Cardiovascular heart       highly Endocrine pancreas         Nervous brain       highly Reproductive male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Lymphoid

cell lineage
cell lines	cancer cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

C terminal UBX-like domain, neither necessary nor sufficient for VCP interaction , but is acetylated, which modulates the interaction of ASPSCR1 with Golgi proteins, including ACBD3 (acyl-CoA binding domain-containing 3)

HOMOLOGY

interspecies

homolog to murine Tug

Homologene

FAMILY

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
	intracellular,nuclear envelope

basic FUNCTION

may be playing an important role in controling organism-level glucose homeostatsis (by regulation of SLC2A4 glucose transporter )

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

complex ASPCR1/SLC2A4 in adipocytes

INTERACTION

DNA

RNA

small molecule

protein	ASPSCR1 controls VCP oligomeric status at a particular location in the early secretory pathway and in which this process regulates membrane trafficking in various cell types
	SIRT2 binds and deacetylates ASPSCR1
	ASPSCR1 acetylation promotes SLC2A4 accumulation in an intracellular, insulin-responsive compartment
	ASPSCR1-TFE3 fusion protein regulates cell cycle progression and induces cellular senescence by up-regulating CDKN1A expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ASPS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion translocation     ASPL-TFE3 gene fusion associated with an acquired t(X,17) in a subset of RCC tumoral fusion       ASPSCR1-TFE3 in all cases of alveolar soft part sarcoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS