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Aliases for ASS1 Gene

Aliases for ASS1 Gene

  • Argininosuccinate Synthase 1 2 3 5
  • EC 6.3.4.5 4 61
  • ASS 3 4
  • Argininosuccinate Synthetase 1 3
  • Argininosuccinate Synthetase 2
  • Citrulline--Aspartate Ligase 4
  • Citrulline-Aspartate Ligase 3
  • Argininosuccinate Synthase 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 Alanine and aspartate 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

Enhancers for ASS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F130351 0.4 ENCODE 7.8 -92.4 -92417 1.0 FOS ASS1 GC09M130264 RN7SL665P
GH09F130480 0.4 ENCODE 5.3 +36.2 36172 0.2 CBX3 ZNF76 SIN3A ZBTB40 RAD21 THAP11 SP5 SMAD5 HCFC1 ZBTB11 PRDM12 FUBP3 ABL1 LOC105376297 FIBCD1 ASS1 GC09M130482
GH09F130444 1.3 FANTOM5 Ensembl ENCODE 3.4 +3.8 3804 8.4 PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ENSG00000246851 ASS1 GC09M130482
GH09F130453 0.7 Ensembl ENCODE 0.4 +8.9 8861 0.9 CTCF ESRRA KLF1 SAP130 ZNF2 ZIC2 RAD21 RARA GLIS2 NR2F6 ASS1 GC09M130482
GH09F130437 0.4 FANTOM5 0.4 -7.2 -7158 0.3 ZFHX2 ZBTB40 NR2F2 YY1 ASS1 RN7SL665P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ASS1 on UCSC Golden Path with GeneCards custom track

Promoters for ASS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001315801 493 1601 CREB3L1 ARID4B SIN3A FEZF1 GLIS2 DEK ZNF263 SP3 SP5 ZSCAN16

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

Selected DME Specific Peptides for ASS1 Gene

P00966:
  • KVIAPWR
  • TGKGNDQ
  • YETPAGT
  • NLMHISYE
  • GRNDLMEYAKQHGIP
  • AYSGGLD
  • HGVGRID
  • FTMDREVRKIKQ
  • GKHGVGR
  • EDFEEARKKA
  • GRIDIVENR
  • KSRGIYE
  • GTSLARP
  • DVIAYLANIGQ
  • GNDQVRF
  • KGQVYILGRESP
  • SLYNEELVSM
  • KLGAKKVFIED
  • VQGDYEP
  • SGGLDTS

Post-translational modifications for ASS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:0000166 nucleotide binding IEA --
GO:0004055 argininosuccinate synthase activity IEA,IMP 7977368
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

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

Inhibitory RNA Products

Flow Cytometry 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:0005634 nucleus IEA --
GO:0005737 cytoplasm TAS 6194510
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

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:0000050 urea cycle TAS --
GO:0000052 citrulline metabolic process IMP 7977368
GO:0000053 argininosuccinate metabolic process IMP 7977368
GO:0001822 kidney development IEA --
GO:0001889 liver development IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citrulline Approved Nutra Full agonist, Agonist, Target 0
Adenosine triphosphate Approved Nutra Target 0
L-Arginine Approved Nutra Full agonist, Agonist, Target 0
L-Aspartic acid Approved Nutra Target 0
Phenylacetic acid Approved Pharma 11

(16) 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
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ASS1 Gene



Protein tissue co-expression partners for ASS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ASS1 Gene:

ASS1

SOURCE GeneReport for Unigene cluster for ASS1 Gene:

Hs.160786
genes like me logo Genes that share expression patterns with ASS1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia ASS1 34 35
  • 99.51 (n)
mouse
(Mus musculus)
Mammalia Gm5424 35
  • 97 (a)
OneToMany
Ass1 34 16 35
  • 89.08 (n)
dog
(Canis familiaris)
Mammalia ASS1 34 35
  • 92.15 (n)
cow
(Bos Taurus)
Mammalia ASS1 34 35
  • 91.75 (n)
rat
(Rattus norvegicus)
Mammalia Ass1 34
  • 89.64 (n)
oppossum
(Monodelphis domestica)
Mammalia ASS1 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASS1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASS1 34 35
  • 79.14 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ass1 34
  • 75.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia ass-prov 34
zebrafish
(Danio rerio)
Actinopterygii ass1 34 35
  • 74.39 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4283 34
fruit fly
(Drosophila melanogaster)
Insecta CG1315 34 35
  • 61.18 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta ASSY_ANOGA 34
  • 60.79 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER230C 34
  • 55.19 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04037g 34
  • 54.02 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG1 34 35 37
  • 53.5 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24830 34
  • 52.99 (n)
rice
(Oryza sativa)
Liliopsida Os12g0235800 34
  • 53.4 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.9270 34
corn
(Zea mays)
Liliopsida Zm.3261 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 63 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02639 34
  • 60.5 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes arg12 34
  • 55.95 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2241 34
Species where no ortholog for ASS1 was found in the sources mined by GeneCards:
  • 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

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
rs121908636 Citrullinemia 1 (CTLN1) [MIM:215700], Pathogenic 130,452,268(+) GTGGC(A/G)GCCTG reference, missense
rs121908637 Citrullinemia 1 (CTLN1) [MIM:215700], Pathogenic 130,466,774(+) GGGCC(A/G)CAATG reference, missense
rs121908638 Citrullinemia 1 (CTLN1) [MIM:215700], Pathogenic 130,470,877(+) GTGGA(A/G)CATGG reference, missense
rs121908639 Citrullinemia 1 (CTLN1) [MIM:215700], other 130,489,464(+) ATACC(A/G)GTGCG reference, missense
rs121908640 Citrullinemia 1 (CTLN1) [MIM:215700], Pathogenic 130,494,983(+) TCGGC(C/T)GGGAG intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv12911n54 CNV loss 21841781
dgv7718n100 CNV gain 25217958
esv1002962 CNV deletion 20482838
nsv1051541 CNV gain 25217958
nsv466597 CNV loss 19166990
nsv466600 CNV loss 19166990
nsv615523 CNV loss 21841781
nsv615524 CNV loss 21841781
nsv6734 CNV deletion 18451855
nsv831734 CNV gain 17160897
nsv972455 CNV duplication 23825009
nsv972456 CNV duplication 23825009
nsv982348 CNV duplication 23825009
nsv982349 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
ASS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • citrullinemia, classic
acute neonatal citrullinemia type i
  • acute neonatal citrullinemia type 1
adult-onset citrullinemia type i
  • adult-onset citrullinemia type 1
argininosuccinic aciduria
  • citrullinemia
lysinuric protein intolerance
  • dibasic amino aciduria ii
- 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. Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. (PMID: 19006241) Engel K. … Haeberle J. (Hum. Mutat. 2009) 3 4 22 64
  2. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. (PMID: 12815590) Gao H.-Z. … Saheki T. (Hum. Mutat. 2003) 3 4 22 64
  3. 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 22 64
  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 22 64
  5. Additional mutations in argininosuccinate synthetase causing citrullinemia. (PMID: 1943692) Kobayashi K. … O'Brien W.E. (Mol. Biol. Med. 1991) 3 4 22 64

Products for ASS1 Gene

Sources for ASS1 Gene

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