Details for: ASS1

Gene ID: 445

Symbol: ASS1

Ensembl ID: ENSG00000130707

Description: argininosuccinate synthase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 179.8191
    Cell Significance Index: -27.9700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 109.9970
    Cell Significance Index: -27.9000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 43.0761
    Cell Significance Index: -28.9100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.6934
    Cell Significance Index: -31.3300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.0805
    Cell Significance Index: -27.9400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 5.5279
    Cell Significance Index: 50.9100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 3.6905
    Cell Significance Index: 191.7100
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: 3.4957
    Cell Significance Index: 19.8700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 3.2354
    Cell Significance Index: 54.5000
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 2.8570
    Cell Significance Index: 13.9000
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 2.2063
    Cell Significance Index: 5.8200
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.7655
    Cell Significance Index: 40.7900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.6170
    Cell Significance Index: 263.0000
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.5595
    Cell Significance Index: 7.7800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.4294
    Cell Significance Index: 166.5800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.4091
    Cell Significance Index: 153.2700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.3282
    Cell Significance Index: 22.3400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.2073
    Cell Significance Index: 56.2900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.1896
    Cell Significance Index: 342.2900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.1697
    Cell Significance Index: 232.1400
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.0139
    Cell Significance Index: 8.1000
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.9862
    Cell Significance Index: 12.6300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9698
    Cell Significance Index: 875.7000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.8589
    Cell Significance Index: 12.6800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.8415
    Cell Significance Index: 58.2000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7087
    Cell Significance Index: 127.7600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.7019
    Cell Significance Index: 49.6400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6429
    Cell Significance Index: 63.6000
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.6399
    Cell Significance Index: 8.9800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5757
    Cell Significance Index: 15.6700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5599
    Cell Significance Index: 68.8400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4844
    Cell Significance Index: 214.1800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3601
    Cell Significance Index: 16.3200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3430
    Cell Significance Index: 44.3200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3381
    Cell Significance Index: 46.4300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2954
    Cell Significance Index: 556.1500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2930
    Cell Significance Index: 105.1100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.2662
    Cell Significance Index: 7.0000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2149
    Cell Significance Index: 10.1000
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.1945
    Cell Significance Index: 1.2000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1808
    Cell Significance Index: 4.5200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1602
    Cell Significance Index: 12.3000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1548
    Cell Significance Index: 107.1000
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.1373
    Cell Significance Index: 0.8500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1342
    Cell Significance Index: 3.7500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1340
    Cell Significance Index: 73.1800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1312
    Cell Significance Index: 83.3000
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.1234
    Cell Significance Index: 2.1800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1140
    Cell Significance Index: 19.4700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1067
    Cell Significance Index: 20.3100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0935
    Cell Significance Index: 3.2900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0736
    Cell Significance Index: 1.9700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0611
    Cell Significance Index: 12.2600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0442
    Cell Significance Index: 81.6000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0410
    Cell Significance Index: 25.6100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0390
    Cell Significance Index: 29.5500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0155
    Cell Significance Index: 0.9300
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.0148
    Cell Significance Index: 0.0900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0121
    Cell Significance Index: 18.5900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0058
    Cell Significance Index: 0.7400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0092
    Cell Significance Index: -6.8500
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0170
    Cell Significance Index: -0.1300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0214
    Cell Significance Index: -29.0400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0219
    Cell Significance Index: -16.0300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0364
    Cell Significance Index: -20.5500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0447
    Cell Significance Index: -20.2800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0468
    Cell Significance Index: -5.3700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0607
    Cell Significance Index: -0.9100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0727
    Cell Significance Index: -2.3300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0748
    Cell Significance Index: -0.8500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0799
    Cell Significance Index: -1.0900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0826
    Cell Significance Index: -17.4100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0923
    Cell Significance Index: -9.4300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0956
    Cell Significance Index: -13.9000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1155
    Cell Significance Index: -9.1500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1262
    Cell Significance Index: -2.7400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1946
    Cell Significance Index: -2.0200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2229
    Cell Significance Index: -23.2100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2286
    Cell Significance Index: -4.7900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2294
    Cell Significance Index: -26.1900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2750
    Cell Significance Index: -32.4400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2772
    Cell Significance Index: -14.0100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2842
    Cell Significance Index: -21.1800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2872
    Cell Significance Index: -17.6100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3124
    Cell Significance Index: -6.6300
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.3182
    Cell Significance Index: -1.3900
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.3240
    Cell Significance Index: -4.6600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3715
    Cell Significance Index: -24.9800
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.3836
    Cell Significance Index: -2.6600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4350
    Cell Significance Index: -15.9700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4416
    Cell Significance Index: -28.4900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.4469
    Cell Significance Index: -6.4000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4578
    Cell Significance Index: -28.1400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4687
    Cell Significance Index: -29.5400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.4687
    Cell Significance Index: -13.5100
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: -0.4688
    Cell Significance Index: -3.8800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4897
    Cell Significance Index: -25.7100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5096
    Cell Significance Index: -13.1000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.5122
    Cell Significance Index: -28.7400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5876
    Cell Significance Index: -25.9900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** ASS1 is a mitochondrial enzyme that catalyzes the conversion of citrulline and aspartate to argininosuccinate, a key intermediate in the urea cycle. This enzyme plays a vital role in the biosynthesis of arginine, a semi-essential amino acid that serves as a precursor for nitric oxide (NO) production, immune cell activation, and collagen synthesis. ASS1 is highly expressed in various tissues, including the liver, kidney, and immune cells, such as macrophages and T cells. **Pathways and Functions:** ASS1 is involved in several critical pathways, including: 1. **Urea Cycle:** ASS1 is a central enzyme in the urea cycle, facilitating the conversion of ammonia to urea, which is then excreted from the body. 2. **Arginine Biosynthesis:** ASS1 is essential for arginine production, which is required for various cellular processes, including NO production, collagen synthesis, and immune cell activation. 3. **Nitric Oxide Biosynthesis:** ASS1 is a key enzyme in the production of NO, a potent antimicrobial agent and immune cell activator. 4. **Immune Response:** ASS1 is expressed in immune cells, where it plays a crucial role in regulating immune responses, including inflammation and cell-mediated immunity. 5. **Metabolism:** ASS1 is involved in various metabolic processes, including amino acid metabolism, glucose metabolism, and energy production. **Clinical Significance:** Dysregulation of ASS1 has been implicated in various diseases, including: 1. **Uremia:** ASS1 deficiency can lead to uremia, a condition characterized by the accumulation of ammonia and urea in the blood. 2. **Arginine Deficiency:** ASS1 deficiency can result in arginine deficiency, which can impair immune function and increase the risk of infections. 3. **Immune System Disorders:** ASS1 dysregulation has been linked to immune system disorders, including autoimmune diseases and immunodeficiency syndromes. 4. **Cancer:** ASS1 has been implicated in cancer development and progression, where it may play a role in tumor growth, angiogenesis, and metastasis. In conclusion, ASS1 is a critical enzyme involved in various cellular processes, including the urea cycle, arginine biosynthesis, and immune response. Its dysregulation can lead to various diseases, highlighting the importance of ASS1 in maintaining immune homeostasis and overall health. Further research is necessary to fully elucidate the role of ASS1 in human disease and to develop therapeutic strategies targeting this enzyme.

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 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 43 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 1 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 1 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 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.