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FLASH GENE

Symbol

ADSS1

contributors: mct - updated : 07-04-2021

HGNC name	adenylosuccinate synthase 1
HGNC id	20093

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MPD5 myopathy, distal, 5
Location	14q32.33      Physical location : -
Synonym name	adenylosuccinate synthase like 1
	AMPSase 1
	IMP--aspartate ligase 1
Synonym symbol(s)	FLJ38602, ADSSL1, MPD5
EC.number	6.3.4.4

DNA

TYPE	functioning gene
STRUCTURE	23.12 kb     13 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_152328 13 - 1723 NP_689541 50 457 - 2005 15786719 NM_199165 13 - 1884 NP_954634 - 500 - 2005 15786719 NM_001320424 13 - 1867 NP_001307353 - 252 - 2005 15786719

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 Cardiovascular heart       predominantly Reproductive female system uterus cervix   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Muscular striatum skeletal   predominantly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

mono polymer

homomer , dimer

HOMOLOGY

interspecies

ortholog to murine AdSS1, muscular

Homologene

FAMILY

adenylosuccinate synthetase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	playing an important role in the de novo pathway of purine nucleotide biosynthesis
	adenylosuccinate synthase and ligase activity
	playing a potential role in muscle metabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

pathway of purine nucleotide biosynthesis

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	magnesium ion binding
	GTP ion binding

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MPD5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function is a novel somatic alteration in lung carcinogenesis

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS