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argininosuccinate synthetase (citrulline-aspartate ligase, ASS1, ASS)

Function: - amino-acid biosynthesis; L-arginine biosynthesis - L-arginine from L-ornithine & carbamoyl phosphate: step 2/3 - nitrogen metabolism; urea cycle; argininosuccinate from L-aspartate & L-citrulline: step 1/1 ATP + L-citrulline + L-aspartate AMP + diphosphate + N(omega)-L-argininosuccinate Structure: - homotetramer - belongs to the argininosuccinate synthase family, type 1 subfamily Pathology: - defects in activity results in citrullinemia type 1 Laboratory: - ASS1 gene mutation - argininosuccinate synthase in amniotic fluid cells - argininosuccinate synthase in chorionic villus - argininosuccinate synthase in liver - argininosuccinate synthase in liver from fetus - argininosuccinate synthase in fibroblasts

Interactions

molecular events

Related

urea cycle

General

ligase or synthetase urea cycle enzyme

Properties

SIZE: entity length = 412 aa MW = 47 kD COMPARTMENT: cytoplasm CELL: hepatocyte MOTIF: ATP-binding site NAME: ATP-binding site SITE: 10-18 ATP-binding site NAME: ATP-binding site SITE: 36-36 binding site SITE: 87-87 FOR-BINDING-OF: citrulline binding site SITE: 92-92 FOR-BINDING-OF: citrulline ATP-binding site NAME: ATP-binding site SITE: 115-123 MOTIF: binding site SITE: 119-119 FOR-BINDING-OF: Aspartate binding site SITE: 123-123 FOR-BINDING-OF: Aspartate binding site SITE: 123-123 FOR-BINDING-OF: Citrulline binding site SITE: 124-124 FOR-BINDING-OF: aspartate binding site SITE: 127-127 FOR-BINDING-OF: citrulline binding site SITE: 180-180 FOR-BINDING-OF: citrulline binding site SITE: 189-189 FOR-BINDING-OF: citrulline binding site SITE: 270-270 FOR-BINDING-OF: citrulline binding site SITE: 282-282 FOR-BINDING-OF: citrulline

Database Correlations

OMIM correlations MORBIDMAP 603470 UniProt P00966 Pfam PF00764 Kegg hsa:445 ENZYME 6.3.4.5

References

  1. OMIM :accession 215700
  2. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=ASS1