QuickView for CPS1 (gene)

Gene Symbol:

CPS1 Homo sapiens

Full name:

carbamoyl-phosphate synthase 1

Synonyms:

CPSASE1, PHN, carbamoyl-phosphate synthase [ammonia], mitochondrial, carbamoyl-phosphate synthase (ammonia), carbamoyl-phosphate synthase 1, mitochondrial, carbamoylphosphate synthetase I

Genomic Location:

Chr 2: 211129583-211252076

Description:

The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encod...

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The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

YGACNNYACAR_UNKNOWN ,  CTTTGA_LEF1_Q2 ,  WTGAAAT_UNKNOWN ,  CEBPDELTA_Q6 ,  YYCATTCAWW_UNKNOWN ,  CDX2_Q5 ,  YCATTAA_UNKNOWN ,  TTGTTT_FOXO4_01 ,  CAGCTG_AP4_Q5 ,  MMEF2_Q6

Cytogenetic Map:

2q34

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