Details for: ASS1

Gene ID: 445

Symbol: ASS1

Ensembl ID: ENSG00000130707

Description: argininosuccinate synthase 1

Associated with

Other Information

Genular Protein ID: 3963876967

Symbol: ASSY_HUMAN

Name: Citrulline--aspartate ligase

UniProtKB Accession Codes:

P00966 Q6LDL2 Q86UZ0 Q96GT4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTAC 2 CTD 1 ChEBI 21 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 DrugCentral 1 EC 1 EMBL 12 EPD 1 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 43 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 3 Rhea 1 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UniPathway 2 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 6194510

Title: Sequence for human argininosuccinate synthetase cDNA.

PubMed ID: 6194510

DOI: 10.1093/nar/11.18.6505

PubMed ID: 6321498

Title: Molecular structures of human argininosuccinate synthetase pseudogenes. Evolutionary and mechanistic implications.

PubMed ID: 6321498

DOI: 10.1016/s0021-9258(17)43275-3

PubMed ID: 11941481

Title: Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.

PubMed ID: 11941481

DOI: 10.1007/s00439-002-0686-6

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3027451

Title: Structure of the 5' end region of the human argininosuccinate synthetase gene.

PubMed ID: 3027451

DOI: 10.1007/bf01819307

PubMed ID: 2788888

Title: Identification of essential arginine residue(s) for Mg-ATP binding of human argininosuccinate synthetase.

PubMed ID: 2788888

PubMed ID: 9150948

Title: A two-dimensional gel database of human colon carcinoma proteins.

PubMed ID: 9150948

DOI: 10.1002/elps.1150180344

PubMed ID: 1708740

Title: Molecular characterization of the murine argininosuccinate synthetase locus.

PubMed ID: 1708740

DOI: 10.1016/0378-1119(91)90125-u

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28985504

Title: CLOCK acetylates ASS1 to drive circadian rhythm of ureagenesis.

PubMed ID: 28985504

DOI: 10.1016/j.molcel.2017.09.008

PubMed ID: 8792870

Title: Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.

PubMed ID: 8792870

DOI: 10.1159/000474998

PubMed ID: 17496144

Title: Restructuring of the dinucleotide-binding fold in an NADP(H) sensor protein.

PubMed ID: 17496144

DOI: 10.1073/pnas.0700480104

PubMed ID: 18323623

Title: Structure of human argininosuccinate synthetase.

PubMed ID: 18323623

DOI: 10.1107/s0907444907067455

PubMed ID: 2358466

Title: Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.

PubMed ID: 2358466

DOI: 10.1016/s0021-9258(19)38601-6

PubMed ID: 1943692

Title: Additional mutations in argininosuccinate synthetase causing citrullinemia.

PubMed ID: 1943692

PubMed ID: 7977368

Title: Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.

PubMed ID: 7977368

PubMed ID: 11708871

Title: Phenotype and genotype heterogeneity in Mediterranean citrullinemia.

PubMed ID: 11708871

DOI: 10.1006/mgme.2001.3221

PubMed ID: 12815590

Title: Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

PubMed ID: 12815590

DOI: 10.1002/humu.10230

PubMed ID: 14680976

Title: Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

PubMed ID: 14680976

DOI: 10.1016/j.ymgme.2003.08.002

PubMed ID: 15863597

Title: Postpartum 'psychosis' in mild argininosuccinate synthetase deficiency.

PubMed ID: 15863597

DOI: 10.1097/01.aog.0000157769.90230.24

PubMed ID: 16475226

Title: Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.

PubMed ID: 16475226

DOI: 10.1002/pd.1390

PubMed ID: 18473344

Title: Investigation of citrullinemia type I variants by in vitro expression studies.

PubMed ID: 18473344

DOI: 10.1002/humu.20784

PubMed ID: 19006241

Title: Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.

PubMed ID: 19006241

DOI: 10.1002/humu.20847

PubMed ID: 23611581

Title: Prenatal diagnosis of citrullinemia type 1: a Chinese family with a novel mutation of the ASS1 gene.

PubMed ID: 23611581

DOI: 10.1016/j.braindev.2013.03.005

PubMed ID: 24889030

Title: Improved standards for prenatal diagnosis of citrullinemia.

PubMed ID: 24889030

DOI: 10.1016/j.ymgme.2014.05.004

PubMed ID: 25179242

Title: Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.

PubMed ID: 25179242

DOI: 10.1016/j.cca.2014.08.028

PubMed ID: 27287393

Title: Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.

PubMed ID: 27287393

DOI: 10.1136/jmedgenet-2016-103937

PubMed ID: 28111830

Title: Mutations in the human argininosuccinate synthetase (ASS1) gene, impact on patients, common changes, and structural considerations.

PubMed ID: 28111830

DOI: 10.1002/humu.23184

Sequence Information:

  • Length: 412
  • Mass: 46530
  • Checksum: 47CAD2373AE47E47
  • Sequence:
    • MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF 
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG 
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS 
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD 
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF 
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI 
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.