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Aliases for ASS1 Gene

Aliases for ASS1 Gene

  • Argininosuccinate Synthase 1 2 3
  • ASS 3 4 6
  • Citrulline--Aspartate Ligase 3 4
  • EC 6.3.4.5 4 64
  • Argininosuccinate Synthetase 1 3
  • Argininosuccinate Synthetase 2
  • Citrulline-Aspartate Ligase 3
  • Argininosuccinate Synthase 3
  • CTLN1 3

External Ids for ASS1 Gene

Previous Symbols for ASS1 Gene

  • ASS

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 adult-onset citrullinemia type i. Among its related pathways are Metabolism and Carbon metabolism.

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

Genomic Location for ASS1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ASS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASS1 Gene

Regulatory Elements for ASS1 Gene

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

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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ASS1 Gene

UniProtKB/Swiss-Prot:

ASSY_HUMAN
Family:
  • Belongs to the argininosuccinate synthase family. Type 1 subfamily.:
    • P00966
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:0004055 argininosuccinate synthase activity IMP 7977368
GO:0004066 asparagine synthase (glutamine-hydrolyzing) activity --
GO:0005515 protein binding IPI 12620389
GO:0005524 ATP binding IEA --
GO:0015643 toxic substance binding IEA --
genes like me logo Genes that share ontologies with ASS1: view
genes like me logo Genes that share phenotypes with ASS1: view

Animal Models for ASS1 Gene

MGI Knock Outs for ASS1:

miRNA for ASS1 Gene

miRTarBase miRNAs that target ASS1

No data available for Transcription Factor Targeting 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 4
mitochondrion 2
nucleus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ASS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005764 lysosome IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with ASS1: view

Pathways 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:0000050 urea cycle TAS --
GO:0000052 citrulline metabolic process IMP 7977368
GO:0000053 argininosuccinate metabolic process IMP 7977368
GO:0001101 response to acid chemical --
GO:0001822 kidney development IEA --
genes like me logo Genes that share ontologies with ASS1: view

Compounds for ASS1 Gene

(9) HMDB Compounds for ASS1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Argininosuccinic acid
  • Argininosuccinate
2387-71-5
Canavaninosuccinate
  • Canavaninosuccinic acid
56073-32-6
Citrulline
  • (2S)-2-amino-5-(carbamoylamino)pentanoic acid
372-75-8

(2) Drugbank Compounds for ASS1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Aspartic Acid
  • (+)-Aspartic acid
56-84-8 target
L-Citrulline
  • 2-Amino-5-uredovaleric acid
372-75-8 target

(26) Novoseek inferred chemical compound relationships for ASS1 Gene

Compound -log(P) Hits PubMed IDs
citrulline 92.7 40
carbamoyl phosphate 78.2 9
arginine 77.9 83
urea 75.3 35
ornithine 71.4 15

(3) PharmGKB related drug/compound annotations for ASS1 Gene

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (14.7) and Kidney - Cortex (5.9).

Integrated Proteomics: protein expression 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 expressions with ASS1: view

Orthologs for ASS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ASS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASS1 36
  • 99.51 (n)
  • 99.51 (a)
ASS1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ASS1 36
  • 91.75 (n)
  • 96.12 (a)
ASS1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASS1 36
  • 92.15 (n)
  • 98.06 (a)
ASS1 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ass1 36
  • 89.08 (n)
  • 96.84 (a)
Ass1 16
Ass1 37
  • 97 (a)
OneToMany
Gm5424 37
  • 97 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ASS1 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASS1 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ass1 36
  • 89.64 (n)
  • 97.57 (a)
chicken
(Gallus gallus)
Aves ASS1 36
  • 79.14 (n)
  • 79.22 (a)
ASS1 37
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ass-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ass1 36
  • 75.17 (n)
  • 81.44 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4283 36
zebrafish
(Danio rerio)
Actinopterygii ass1 36
  • 74.39 (n)
  • 77.07 (a)
ass1 37
  • 69 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ASSY_ANOGA 36
  • 60.79 (n)
  • 57.57 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1315 36
  • 61.18 (n)
  • 55.36 (a)
CG1315 37
  • 53 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER230C 36
  • 55.19 (n)
  • 51.26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG1 36
  • 53.5 (n)
  • 51.5 (a)
ARG1 37
  • 49 (a)
OneToOne
ARG1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04037g 36
  • 54.02 (n)
  • 53.27 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24830 36
  • 52.99 (n)
  • 47.27 (a)
corn
(Zea mays)
Liliopsida Zm.3261 36
rice
(Oryza sativa)
Liliopsida Os12g0235800 36
  • 53.4 (n)
  • 48.17 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.9270 36
bread mold
(Neurospora crassa)
Ascomycetes NCU02639 36
  • 60.5 (n)
  • 55.78 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes arg12 36
  • 55.95 (n)
  • 54.85 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2241 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs4032 -- 130,473,865(-) GCCGG(C/T)GACTG intron-variant
rs474330 -- 130,485,505(-) CCAAA(C/T)TACAT intron-variant
rs476067 -- 130,475,719(-) CGTAT(C/T)GCTTC intron-variant
rs480313 -- 130,481,907(+) TATCC(G/T)GGCTT intron-variant
rs486889 -- 130,471,693(-) GGAGA(C/T)GGTGG intron-variant

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

Relevant External Links for ASS1 Gene

HapMap Linkage Disequilibrium report
ASS1
Human Gene Mutation Database (HGMD)
ASS1
Locus Specific Mutation Databases (LSDB)
ASS1

Disorders for ASS1 Gene

(1) OMIM Diseases for ASS1 Gene (603470)

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.

(1) University of Copenhagen DISEASES for ASS1 Gene

(26) Novoseek inferred disease relationships for ASS1 Gene

Disease -log(P) Hits PubMed IDs
citrullinemia 98.5 79
citrullinemia classical 95.8 7
ctln2 92.8 12
argininosuccinate lyase deficiency 90.5 7
hyperammonemia 84.8 7

Relevant External Links for ASS1

GeneTests
ASS1
GeneReviews
ASS1
Genetic Association Database (GAD)
ASS1
Human Genome Epidemiology (HuGE) Navigator
ASS1
genes like me logo Genes that share disorders with ASS1: view

Publications for ASS1 Gene

  1. Additional mutations in argininosuccinate synthetase causing citrullinemia. (PMID: 1943692) Kobayashi K. … O'Brien W.E. (Mol. Biol. Med. 1991) 3 4 23
  2. Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. (PMID: 2358466) Kobayashi K. … Beaudet A.L. (J. Biol. Chem. 1990) 3 4 23
  3. Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. (PMID: 7977368) Kobayashi K. … Saheki T. (Am. J. Hum. Genet. 1994) 3 4 23
  4. 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
  5. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. (PMID: 11941481) Haeberle J. … Koch H.G. (Hum. Genet. 2002) 3 4 23

Products for ASS1 Gene

Sources for ASS1 Gene

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