| 1307617 | Adsl | adenylosuccinate lyase | ENCODES a protein that exhibits (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity; identical protein binding; N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity; INVOLVED IN aerobic respiration; AMP biosynthetic process; response to hypoxia; PARTICIPATES IN adenine phoshoribosyltransferase deficiency pathway; adenosine monophosphate deaminase deficiency pathway; adenylosuccinate lyase deficiency pathway; ASSOCIATED WITH breast cancer; Experimental Diabetes Mellitus; Experimental Liver Neoplasms; FOUND IN cytosol (ortholog); protein-containing complex (ortholog); INTERACTS WITH 2,4-dinitrotoluene; 2,6-dinitrotoluene; 4-amino-2,6-dinitrotoluene | 7 | 114359440 | 114383618 | Rat | 166 | symbol , PhenoGen | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1316916 | ADSL | adenylosuccinate lyase | The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole car boxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015] | 22 | 40346500 | 40387527 | Human | 299 | symbol , COSMIC , description , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1316917 | Adsl | adenylosuccinate lyase | This gene encodes a protein that is involved in adenosine monophosphate (AMP) biosynthesis and maintaining AMP levels in the muscle. The encoded enzyme catalyzes the release of fumarate during AMP biosynthesis by cleaving the substrates succinylaminoimidazole carboxamide (SAICA) ribotide to give ami noimidazole carboxamide (AICA) ribotide, and adenylosuccinate to give adenylate. In humans, this gene is associated with adenylosuccinate deficiency, a rare autosomal disorder resulting in a spectrum of neurological symptoms. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Jan 2013] | 15 | 80832691 | 80855148 | Mouse | 182 | symbol , PhenoGen | gene, protein-coding, REVIEWED [RefSeq] |
| 9051062 | Adsl | adenylosuccinate lyase | ENCODES a protein that exhibits (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity (ortholog); identical protein binding (ortholog); N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (ortholog); INVOLVED IN 'de novo' AMP biosynth etic process (ortholog); 'de novo' IMP biosynthetic process (ortholog); 'de novo' XMP biosynthetic process (ortholog); PARTICIPATES IN adenine phoshoribosyltransferase deficiency pathway; adenosine monophosphate deaminase deficiency pathway; adenylosuccinate lyase deficiency pathway; ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); autism spectrum disorder (ortholog); autistic disorder (ortholog); FOUND IN cytosol (ortholog); protein-containing complex (ortholog) | NW_004955413 | 26067463 | 26084669 | Chinchilla | 52 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11832834 | ADSL | adenylosuccinate lyase | ENCODES a protein that exhibits (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity (ortholog); identical protein binding (ortholog); N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (ortholog); INVOLVED IN aerobic respiration (o rtholog); AMP biosynthetic process (ortholog); response to hypoxia (ortholog); PARTICIPATES IN adenine phoshoribosyltransferase deficiency pathway; adenosine monophosphate deaminase deficiency pathway; adenylosuccinate lyase deficiency pathway; ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); autism spectrum disorder (ortholog); autistic disorder (ortholog); FOUND IN cytosol (inferred); protein-containing complex (inferred) | 22 | 21249920 | 21271749 | Bonobo | 65 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12385465 | ADSL | adenylosuccinate lyase | ENCODES a protein that exhibits (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity (ortholog); identical protein binding (ortholog); N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (ortholog); INVOLVED IN aerobic respiration (o rtholog); AMP biosynthetic process (ortholog); response to hypoxia (ortholog); PARTICIPATES IN adenine phoshoribosyltransferase deficiency pathway; adenosine monophosphate deaminase deficiency pathway; adenylosuccinate lyase deficiency pathway; ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); autism spectrum disorder (ortholog); autistic disorder (ortholog); FOUND IN cytosol (inferred); protein-containing complex (inferred) | 10 | 24813854 | 24832115 | Dog | 63 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12529481 | Adsl | adenylosuccinate lyase | ENCODES a protein that exhibits (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity (ortholog); identical protein binding (ortholog); N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (ortholog); INVOLVED IN 'de novo' XMP biosynth etic process (ortholog); aerobic respiration (ortholog); AMP biosynthetic process (ortholog); PARTICIPATES IN adenine phoshoribosyltransferase deficiency pathway; adenosine monophosphate deaminase deficiency pathway; adenylosuccinate lyase deficiency pathway; ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); autism spectrum disorder (ortholog); autistic disorder (ortholog); FOUND IN protein-containing complex (ortholog) | NW_004936492 | 1423780 | 1440825 | Squirrel | 59 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155256854 | adsl | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 18405984 | ADSL | adenylosuccinate lyase | ENCODES a protein that exhibits (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity (ortholog); identical protein binding (ortholog); N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (ortholog); INVOLVED IN 'de novo' AMP biosynth etic process (ortholog); 'de novo' IMP biosynthetic process (ortholog); 'de novo' XMP biosynthetic process (ortholog); PARTICIPATES IN adenine phoshoribosyltransferase deficiency pathway; adenosine monophosphate deaminase deficiency pathway; adenylosuccinate lyase deficiency pathway; ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); autism spectrum disorder (ortholog); autistic disorder (ortholog); FOUND IN cytosol (ortholog); protein-containing complex (ortholog) | | | | Green Monkey | 52 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 625861867 | Adsl | adenylosuccinate lyase | ENCODES a protein that exhibits (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity (ortholog); identical protein binding (ortholog); N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (ortholog); INVOLVED IN 'de novo' AMP biosynth etic process (ortholog); 'de novo' IMP biosynthetic process (ortholog); 'de novo' XMP biosynthetic process (ortholog); PARTICIPATES IN adenine phoshoribosyltransferase deficiency pathway; adenosine monophosphate deaminase deficiency pathway; adenylosuccinate lyase deficiency pathway; ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); autism spectrum disorder (ortholog); autistic disorder (ortholog); FOUND IN cytosol (ortholog); protein-containing complex (ortholog) | | | | Black Rat | 52 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14368798 | AdSL | | | | | | Fly | | symbol | gene, null |
| 13962359 | ADSL | adenylosuccinate lyase | ENCODES a protein that exhibits (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity (ortholog); identical protein binding (ortholog); N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (ortholog); INVOLVED IN aerobic respiration (o rtholog); AMP biosynthetic process (ortholog); response to hypoxia (ortholog); PARTICIPATES IN adenine phoshoribosyltransferase deficiency pathway; adenosine monophosphate deaminase deficiency pathway; adenylosuccinate lyase deficiency pathway; ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); autism spectrum disorder (ortholog); autistic disorder (ortholog); FOUND IN cytosol (inferred); protein-containing complex (inferred) | | | | Pig | 67 | symbol | gene, protein-coding, PROVISIONAL [RefSeq] |
| 20866191 | ADSL | adenylosuccinate lyase | ENCODES a protein that exhibits (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity (inferred); catalytic activity (inferred); identical protein binding (inferred); INVOLVED IN 'de novo' AMP biosynthetic process (inferred); AMP biosynthetic proc ess (inferred); purine nucleotide biosynthetic process (inferred); FOUND IN cytosol (inferred); protein-containing complex (inferred) | | | | Green Monkey | 15 | symbol | gene, protein-coding |
| 18924445 | Adsl | adenylosuccinate lyase | ENCODES a protein that exhibits (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity (ortholog); identical protein binding (ortholog); N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (ortholog); INVOLVED IN 'de novo' XMP biosynth etic process (ortholog); aerobic respiration (ortholog); AMP biosynthetic process (ortholog); PARTICIPATES IN adenine phoshoribosyltransferase deficiency pathway; adenosine monophosphate deaminase deficiency pathway; adenylosuccinate lyase deficiency pathway; ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); autism spectrum disorder (ortholog); autistic disorder (ortholog); FOUND IN protein-containing complex (ortholog) | | | | Naked Mole-Rat | 59 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14368799 | adsl-1 | | | | | | Roundworm | | symbol | gene, null |
| 155247479 | adsl.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 405859728 | adsl.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 405865494 | adsl.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 626468447 | adsl.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 626469148 | adsl.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 405858032 | adsl.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 405856213 | adsl.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 626468000 | adsl.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 41253840 | Adsl-ps1 | adenylosuccinate lyase, pseudogene 1 | | X | 64606534 | 64607960 | Rat | | symbol , PhenoGen | gene, pseudo, MODEL [RefSeq] |
| 16554594 | AL022238.2 | novel transcript, antisense to SGSM3 and ADSL | | | | | Human | | name | gene, lncrna |
