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Aliases for ASS1 Gene

Aliases for ASS1 Gene

  • Argininosuccinate Synthase 1 2 3 5
  • Citrulline--Aspartate Ligase 3 4
  • EC 6.3.4.5 4 63
  • ASS 3 4
  • Argininosuccinate Synthetase 1 3
  • Argininosuccinate Synthetase 2
  • Citrulline-Aspartate Ligase 3
  • CTLN1 3

External Ids for ASS1 Gene

Previous HGNC Symbols for ASS1 Gene

  • ASS

Previous GeneCards Identifiers for ASS1 Gene

  • GC09P132310
  • GC09P133320
  • GC09P102805

Summaries for ASS1 Gene

Entrez Gene Summary for ASS1 Gene

  • The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]

GeneCards Summary for ASS1 Gene

ASS1 (Argininosuccinate Synthase 1) is a Protein Coding gene. Diseases associated with ASS1 include citrullinemia and acute neonatal citrullinemia type i. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include poly(A) RNA binding and amino acid binding.

UniProtKB/Swiss-Prot for ASS1 Gene

  • Is indirectly involved in the control of blood pressure.

Gene Wiki entry for ASS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASS1 Gene

Genomics for ASS1 Gene

Regulatory Elements for ASS1 Gene

Promoters for ASS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ASS1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ASS1 gene promoter:

Genomic Location for ASS1 Gene

Chromosome:
9
Start:
130,444,707 bp from pter
End:
130,501,274 bp from pter
Size:
56,568 bases
Orientation:
Plus strand

Genomic View for ASS1 Gene

Genes around ASS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASS1 Gene

Proteins for ASS1 Gene

  • Protein details for ASS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00966-ASSY_HUMAN
    Recommended name:
    Argininosuccinate synthase
    Protein Accession:
    P00966
    Secondary Accessions:
    • Q6LDL2
    • Q86UZ0
    • Q96GT4

    Protein attributes for ASS1 Gene

    Size:
    412 amino acids
    Molecular mass:
    46530 Da
    Quaternary structure:
    • Homotetramer. Interacts with NMRAL1.

    Three dimensional structures from OCA and Proteopedia for ASS1 Gene

neXtProt entry for ASS1 Gene

Proteomics data for ASS1 Gene at MOPED

Post-translational modifications for ASS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASS1 Gene

Antibody Products

Domains & Families for ASS1 Gene

Graphical View of Domain Structure for InterPro Entry

P00966

UniProtKB/Swiss-Prot:

ASSY_HUMAN :
  • Belongs to the argininosuccinate synthase family. Type 1 subfamily.
Family:
  • Belongs to the argininosuccinate synthase family. Type 1 subfamily.
genes like me logo Genes that share domains with ASS1: view

No data available for Gene Families for ASS1 Gene

Function for ASS1 Gene

Molecular function for ASS1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-citrulline + L-aspartate = AMP + diphosphate + N(omega)-(L-arginino)succinate.
UniProtKB/Swiss-Prot Function:
Is indirectly involved in the control of blood pressure.

Enzyme Numbers (IUBMB) for ASS1 Gene

Gene Ontology (GO) - Molecular Function for ASS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016597 amino acid binding IMP 7977368
genes like me logo Genes that share ontologies with ASS1: view
genes like me logo Genes that share phenotypes with ASS1: view

Human Phenotype Ontology for ASS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASS1 Gene

MGI Knock Outs for ASS1:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for ASS1 Gene

Localization for ASS1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASS1 Gene COMPARTMENTS Subcellular localization image for ASS1 gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 4
nucleus 4
endoplasmic reticulum 2
lysosome 2
vacuole 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ASS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 6194510
GO:0005741 mitochondrial outer membrane IEA --
genes like me logo Genes that share ontologies with ASS1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ASS1 Gene

Pathways & Interactions for ASS1 Gene

genes like me logo Genes that share pathways with ASS1: view

UniProtKB/Swiss-Prot P00966-ASSY_HUMAN

  • Pathway: Amino-acid biosynthesis; L-arginine biosynthesis; L-arginine from L-ornithine and carbamoyl phosphate: step 2/3.
  • Pathway: Nitrogen metabolism; urea cycle; (N(omega)-L-arginino)succinate from L-aspartate and L-citrulline: step 1/1.

Gene Ontology (GO) - Biological Process for ASS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000053 argininosuccinate metabolic process IMP 7977368
GO:0001822 kidney development IEA --
GO:0001889 liver development IEA --
GO:0006526 arginine biosynthetic process IEA --
GO:0006531 aspartate metabolic process IMP 7977368
genes like me logo Genes that share ontologies with ASS1: view

No data available for SIGNOR curated interactions for ASS1 Gene

Drugs & Compounds for ASS1 Gene

(23) Drugs for ASS1 Gene - From: Novoseek, HMDB, DrugBank, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citrulline Approved Nutra Full agonist, Agonist, Target, Target 0
Adenosine triphosphate Approved Nutra Target 0
L-Arginine Approved Nutra Full agonist, Agonist, Target 0
L-Aspartic acid Approved Nutra Target, Target NMDA agonist 0
Valproic Acid Approved, Investigational Pharma HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 311

(15) Additional Compounds for ASS1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Argininosuccinic acid
  • 2-(N(Omega)-L-arginine)succinate
  • 2-(N(Omega)-L-arginine)succinic acid
  • 2-(N(Omega)-L-arginino)succinate
  • 2-(N(Omega)-L-arginino)succinic acid
  • 2-(Nw-L-arginino)butanedioate
2387-71-5
Canavaninosuccinate
  • Canavaninosuccinic acid
56073-32-6
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with ASS1: view

Transcripts for ASS1 Gene

Unigene Clusters for ASS1 Gene

Argininosuccinate synthase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ASS1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - -
SP4: - - - - - - - - -
SP5: - - - -
SP6: -
SP7: - - - -
SP8:
SP9: -
SP10: - -
SP11:

ExUns: 17a · 17b ^ 18 ^ 19a · 19b · 19c
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ASS1 Gene

GeneLoc Exon Structure for
ASS1
ECgene alternative splicing isoforms for
ASS1

Expression for ASS1 Gene

mRNA expression in normal human tissues for ASS1 Gene

mRNA differential expression in normal tissues according to GTEx for ASS1 Gene

This gene is overexpressed in Liver (x14.7) and Kidney - Cortex (x5.9).

Protein differential expression in normal tissues from HIPED for ASS1 Gene

This gene is overexpressed in Liver, secretome (18.5), Liver (14.5), and Kidney (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ASS1 Gene



SOURCE GeneReport for Unigene cluster for ASS1 Gene Hs.160786

genes like me logo Genes that share expression patterns with ASS1: view

Protein tissue co-expression partners for ASS1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ASS1 Gene

Orthologs for ASS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ASS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ASS1 35
  • 91.75 (n)
  • 96.12 (a)
ASS1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASS1 35
  • 92.15 (n)
  • 98.06 (a)
ASS1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ass1 35
  • 89.08 (n)
  • 96.84 (a)
Ass1 16
Ass1 36
  • 97 (a)
OneToMany
Gm5424 36
  • 97 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ASS1 35
  • 99.51 (n)
  • 99.51 (a)
ASS1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ass1 35
  • 89.64 (n)
  • 97.57 (a)
oppossum
(Monodelphis domestica)
Mammalia ASS1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASS1 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASS1 35
  • 79.14 (n)
  • 79.22 (a)
ASS1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ass1 35
  • 75.17 (n)
  • 81.44 (a)
African clawed frog
(Xenopus laevis)
Amphibia ass-prov 35
zebrafish
(Danio rerio)
Actinopterygii ass1 35
  • 74.39 (n)
  • 77.07 (a)
ass1 36
  • 69 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4283 35
African malaria mosquito
(Anopheles gambiae)
Insecta ASSY_ANOGA 35
  • 60.79 (n)
  • 57.57 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1315 35
  • 61.18 (n)
  • 55.36 (a)
CG1315 36
  • 53 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER230C 35
  • 55.19 (n)
  • 51.26 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04037g 35
  • 54.02 (n)
  • 53.27 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG1 35
  • 53.5 (n)
  • 51.5 (a)
ARG1 36
  • 49 (a)
OneToOne
ARG1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24830 35
  • 52.99 (n)
  • 47.27 (a)
rice
(Oryza sativa)
Liliopsida Os12g0235800 35
  • 53.4 (n)
  • 48.17 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.9270 35
corn
(Zea mays)
Liliopsida Zm.3261 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2241 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02639 35
  • 60.5 (n)
  • 55.78 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes arg12 35
  • 55.95 (n)
  • 54.85 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
OneToOne
Species with no ortholog for ASS1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • worm (Caenorhabditis elegans)

Evolution for ASS1 Gene

ENSEMBL:
Gene Tree for ASS1 (if available)
TreeFam:
Gene Tree for ASS1 (if available)

Paralogs for ASS1 Gene

(2) SIMAP similar genes for ASS1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ASS1: view

No data available for Paralogs for ASS1 Gene

Variants for ASS1 Gene

Sequence variations from dbSNP and Humsavar for ASS1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_000681 Citrullinemia 1 (CTLN1)
VAR_000682 Citrullinemia 1 (CTLN1)
VAR_000683 Citrullinemia 1 (CTLN1)
VAR_000684 Citrullinemia 1 (CTLN1)
VAR_000685 Citrullinemia 1 (CTLN1)

Structural Variations from Database of Genomic Variants (DGV) for ASS1 Gene

Variant ID Type Subtype PubMed ID
nsv893933 CNV Gain 21882294
nsv893935 CNV Loss 21882294
nsv893943 CNV Loss 21882294
nsv893946 CNV Loss 21882294
nsv893951 CNV Loss 21882294
dgv8304n71 CNV Loss 21882294
nsv893953 CNV Loss 21882294
nsv466597 CNV Loss 19166990
nsv893955 CNV Loss 21882294
nsv831734 CNV Gain 17160897
nsv893956 CNV Loss 21882294
dgv8305n71 CNV Loss 21882294
esv1002962 CNV Deletion 20482838
nsv6734 CNV Loss 18451855
nsv466600 CNV Loss 19166990

Variation tolerance for ASS1 Gene

Residual Variation Intolerance Score: 27.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.64; 45.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASS1 Gene

HapMap Linkage Disequilibrium report
ASS1
Human Gene Mutation Database (HGMD)
ASS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASS1 Gene

Disorders for ASS1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for ASS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
citrullinemia
  • ass deficiency
acute neonatal citrullinemia type i
  • acute neonatal citrullinemia type 1
adult-onset citrullinemia type i
  • adult-onset citrullinemia type 1
lysinuric protein intolerance
  • dibasic amino aciduria ii
argininosuccinic aciduria
  • citrullinemia
- elite association - COSMIC cancer census association via MalaCards
Search ASS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ASSY_HUMAN
  • Citrullinemia 1 (CTLN1) [MIM:215700]: The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood. {ECO:0000269 PubMed:11708871, ECO:0000269 PubMed:11941481, ECO:0000269 PubMed:12815590, ECO:0000269 PubMed:14680976, ECO:0000269 PubMed:16475226, ECO:0000269 PubMed:1943692, ECO:0000269 PubMed:2358466, ECO:0000269 PubMed:25179242, ECO:0000269 PubMed:7977368}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ASS1

Genetic Association Database (GAD)
ASS1
Human Genome Epidemiology (HuGE) Navigator
ASS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASS1
genes like me logo Genes that share disorders with ASS1: view

No data available for Genatlas for ASS1 Gene

Publications for ASS1 Gene

  1. Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells. (PMID: 8792870) Shaheen N. … Saheki T. (Enzyme Protein 1994) 3 4 23 67
  2. Aberrant regulation of argininosuccinate synthetase by TNF-alpha in human epithelial ovarian cancer. (PMID: 17354225) Szlosarek P.W. … Balkwill F.R. (Int. J. Cancer 2007) 3 23 25
  3. Transient hyperammonemia due to urea cycle enzyme deficiency in Irish wolfhounds. (PMID: 17427379) Zandvliet M.M. … Rothuizen J. (J. Vet. Intern. Med. 2007) 23 25 26
  4. Endothelial nitric oxide production is tightly coupled to the citrulline-NO cycle. (PMID: 17869551) Flam B.R. … Solomonson L.P. (Nitric Oxide 2007) 23 25 26
  5. Coinduction of inducible nitric oxide synthase and arginine recycling enzymes in cytokine-stimulated PC12 cells and high output production of nitric oxide. (PMID: 11072090) Zhang W.Y. … Mori M. (Brain Res. Mol. Brain Res. 2000) 23 25 26

Products for ASS1 Gene

Sources for ASS1 Gene

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