Details for: ASS1

Gene ID: 445

Symbol: ASS1

Ensembl ID: ENSG00000130707

Description: argininosuccinate synthase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 6.5
    Marker Score: 21308.5
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.64
    Marker Score: 9388
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.62
    Marker Score: 2066
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 2.61
    Marker Score: 15486
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.57
    Marker Score: 8073
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 2.38
    Marker Score: 17718
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.34
    Marker Score: 12562
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.31
    Marker Score: 3557
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 2.12
    Marker Score: 5775.5
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.1
    Marker Score: 3092
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.08
    Marker Score: 9997
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.93
    Marker Score: 7600
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.89
    Marker Score: 882
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.87
    Marker Score: 1251
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.86
    Marker Score: 8028
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.81
    Marker Score: 1954
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.78
    Marker Score: 7456.5
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.73
    Marker Score: 11152
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.69
    Marker Score: 3086
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.64
    Marker Score: 7081
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.61
    Marker Score: 3804
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.58
    Marker Score: 778
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 1.53
    Marker Score: 724
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.53
    Marker Score: 1462
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.52
    Marker Score: 1616
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 1.5
    Marker Score: 383
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.49
    Marker Score: 14987
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.49
    Marker Score: 471
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 168009
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.42
    Marker Score: 409
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.4
    Marker Score: 3199
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.4
    Marker Score: 1631
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.4
    Marker Score: 1245
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 1.39
    Marker Score: 401
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.39
    Marker Score: 405
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.36
    Marker Score: 942
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.31
    Marker Score: 490
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 1.26
    Marker Score: 294
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.26
    Marker Score: 2030
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.25
    Marker Score: 472
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.23
    Marker Score: 843
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.21
    Marker Score: 7880
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.19
    Marker Score: 18612
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.18
    Marker Score: 43553
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.16
    Marker Score: 1219
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.13
    Marker Score: 755
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.13
    Marker Score: 1974
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.13
    Marker Score: 362
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.13
    Marker Score: 412
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.11
    Marker Score: 2627
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.1
    Marker Score: 1175
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.09
    Marker Score: 1164
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251752.5
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 1.03
    Marker Score: 263
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.03
    Marker Score: 5419
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 1.02
    Marker Score: 247
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71771.5
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47996
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 0.98
    Marker Score: 847
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.98
    Marker Score: 6393
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 504
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.97
    Marker Score: 542
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 458
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2409
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.95
    Marker Score: 1536
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.95
    Marker Score: 1185.5
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.94
    Marker Score: 293
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5306
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.93
    Marker Score: 1473
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.92
    Marker Score: 266.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2737
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.9
    Marker Score: 338
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.9
    Marker Score: 1159
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.88
    Marker Score: 1988
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.87
    Marker Score: 1265
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.86
    Marker Score: 2104.5
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.85
    Marker Score: 9558
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.85
    Marker Score: 647.5
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.84
    Marker Score: 286
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.83
    Marker Score: 331
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.82
    Marker Score: 1338.5
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.81
    Marker Score: 1440
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.81
    Marker Score: 727
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.8
    Marker Score: 1362
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.8
    Marker Score: 252
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.8
    Marker Score: 1080
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.79
    Marker Score: 329
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.77
    Marker Score: 29062
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 394
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.76
    Marker Score: 853
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.76
    Marker Score: 200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.76
    Marker Score: 753.5
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.74
    Marker Score: 3075
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.74
    Marker Score: 178
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.74
    Marker Score: 7634
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.74
    Marker Score: 357.5
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.73
    Marker Score: 165

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Other Information

**Key characteristics:** * Gene name: ASS1 * Ensembl ID: ENSG00000130707 * Protein name: ASSY_HUMAN * Pathway: Arginine biosynthetic process, Argininosuccinate metabolic process, Urea cycle * Function: Argininosuccinate synthase activity **Pathways and functions:** * Arginine biosynthetic process: ASS1 is involved in the production of argininosuccinic acid from arginine, a precursor molecule derived from dietary protein. * Argininosuccinate metabolic process: Argininosuccinate serves as a precursor for various metabolites, including citrulline, which is involved in the synthesis of carnitine and other amino acids. * Urea cycle: ASS1 is a key enzyme in the urea cycle, where it catalyzes the condensation of glutamine and oxaloacetate to form argininosuccinate. **Clinical significance:** * Mutations in the ASS1 gene have been linked to certain human diseases, including urea cycle disorders and certain types of cancer. * ASS1 inhibitors are being investigated as potential therapeutic agents for these disorders. * Understanding the role of ASS1 in argininosuccinate metabolism provides insights into the regulation of protein synthesis and urea cycle functions. **Additional notes:** * ASS1 is a highly conserved enzyme with homologs in other species. * It is expressed in relatively high levels in the liver and kidney. * Mutations in the ASS1 gene have been associated with a variety of human diseases, including urea cycle disorders, cancer, and developmental abnormalities.

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. For the full schema, download it here.