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... See more...

Aliases for ASS1 Gene

Aliases for ASS1 Gene

  • Argininosuccinate Synthase 1 2 3 5
  • Argininosuccinate Synthase 3 4
  • EC 6.3.4.5 4 54
  • ASS 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Argininosuccinate Synthetase 1 3
  • Citrulline--Aspartate Ligase 4
  • 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]

CIViC Summary for ASS1 Gene

GeneCards Summary for ASS1 Gene

ASS1 (Argininosuccinate Synthase 1) is a Protein Coding gene. Diseases associated with ASS1 include Citrullinemia, Classic and Acute Neonatal Citrullinemia Type I. Among its related pathways are Urea cycle and metabolism of amino groups and Arginine biosynthesis. Gene Ontology (GO) annotations related to this gene include amino acid binding.

UniProtKB/Swiss-Prot Summary for ASS1 Gene

  • One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues.

Gene Wiki entry for ASS1 Gene

Additional gene information for ASS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASS1 Gene

Genomics for ASS1 Gene

GeneHancer (GH) Regulatory Elements for ASS1 Gene

Promoters and enhancers for ASS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J130444 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 753.3 +3.8 3755 8.5 ZNF785 CTCF FOXA1 MLX RBPJ POLR2A NR2F1 NR2F6 MIXL1 MYC ASS1 RF01210-403 NUP214 ENSG00000246851 FUBP3 EXOSC2
GH09J130480 Enhancer 0.7 ENCODE dbSUPER 5.4 +36.2 36172 0.2 CC2D1A ARID2 REST ZBTB33 PHF21A ZFX CTCF ZNF143 RB1 KDM1A NONHSAG053615.2 PRDM12 FUBP3 ABL1 ENSG00000236658 FIBCD1 ASS1 LOC105376294
GH09J130351 Enhancer 0.4 Ensembl ENCODE 7.8 -92.3 -92323 1.2 FOS ASS1 NONHSAG053611.2 RF00017-7992 RF00017-7995 HMCN2
GH09J130473 Enhancer 0.6 Ensembl dbSUPER 5 +29.2 29194 1.8 BCOR ZNF143 KDM1A ZMYM3 SMARCA5 PRDM12 ASS1 lnc-HMCN2-1 lnc-QRFP-1
GH09J130467 Enhancer 1.2 FANTOM5 Ensembl CraniofacialAtlas dbSUPER 0.3 +22.1 22101 2.4 CTCF RAD21 SP1 ZIC2 RXRA POLR2A SCRT2 JUND ATF3 YY1 PRDM12 TOR1A lnc-QRFP-1 RF01210-403 ASS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASS1 gene promoter:
  • Sp1

Genomic Locations for ASS1 Gene

Genomic Locations for ASS1 Gene
chr9:130,444,707-130,501,274
(GRCh38/hg38)
Size:
56,568 bases
Orientation:
Plus strand
chr9:133,320,094-133,376,661
(GRCh37/hg19)
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 (PubMed:18323623). Interacts with NMRAL1 (PubMed:17496144). Interacts with CLOCK; in a circadian manner (PubMed:28985504).

    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

  • Acetylated by CLOCK in a circadian manner which negatively regulates its enzyme activity. Deacetylated by histone deacetylases.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for ASS1

Domains & Families for ASS1 Gene

Gene Families for ASS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ASS1 Gene

GenScript: Design optimal peptide antigens:
  • Citrulline--aspartate ligase (ASSY_HUMAN)
  • Argininosuccinate synthase (Q5T6L4_HUMAN)
  • Argininosuccinate synthase (Q5T6L6_HUMAN)
  • Argininosuccinate synthetase 1 (Q5T6L7_HUMAN)
  • Argininosuccinate synthetase (Q8NFZ7_HUMAN)

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

Function for ASS1 Gene

Molecular function for ASS1 Gene

UniProtKB/Swiss-Prot Function:
One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-aspartate + L-citrulline = 2-(N(omega)-L-arginino)succinate + AMP + diphosphate + H(+); Xref=Rhea:RHEA:10932, ChEBI:CHEBI:15378, ChEBI:CHEBI:29991, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57472, ChEBI:CHEBI:57743, ChEBI:CHEBI:456215; EC=6.3.4.5; Evidence={ECO:0000269 PubMed:18473344, ECO:0000269 PubMed:27287393, ECO:0000269 PubMed:8792870};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=112 uM for citrulline (at pH 7.0 and 37 degrees Celsius) {ECO:0000269 PubMed:18473344}; KM=68 uM for aspartate (at pH 7.0 and 37 degrees Celsius) {ECO:0000269 PubMed:18473344}; Vmax=143 nmol/min/mg enzyme toward citrulline (at pH 7.0 and 37 degrees Celsius) {ECO:0000269 PubMed:18473344}; Vmax=116 nmol/min/mg enzyme toward aspartate (at pH 7.0 and 37 degrees {ECO:0000269 PubMed:18473344};

Enzyme Numbers (IUBMB) for ASS1 Gene

Phenotypes From GWAS Catalog 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:0003723 RNA binding HDA 22658674
GO:0004055 argininosuccinate synthase activity IMP,IEA 7977368
GO:0005515 protein binding IPI 12620389
GO:0005524 ATP 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:
  • Ass1 Ass1<tm1Bay>
  • Ass1 Ass1<tm1.2Ekoe>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASS1

Clone Products

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

Localization for ASS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASS1 Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASS1 gene
Compartment Confidence
cytosol 5
nucleus 4
mitochondrion 3
endoplasmic reticulum 2
lysosome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm TAS,IBA 21873635
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with ASS1: view

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citrulline Approved, Investigational Nutra Full agonist, Agonist, Target 0
Aspartic acid Approved Nutra Target 171
L-Arginine Approved Nutra Full agonist, Agonist, Target 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Argininosuccinic acid
  • 2-(Nomega-L-arginino)succinate
  • L-Argininosuccinate
  • L-Argininosuccinic acid
  • L-Arginosuccinic acid
  • 2-(Nomega-L-arginino)succinic acid
2387-71-5
Canavaninosuccinate
  • Canavaninosuccinic acid
56073-32-6
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with ASS1: view

Transcripts for ASS1 Gene

mRNA/cDNA for ASS1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASS1

Clone 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 CGAP 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, 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

mRNA Expression by UniProt/SwissProt for ASS1 Gene:

P00966-ASSY_HUMAN
Tissue specificity: Expressed in adult liver.

Evidence on tissue expression from TISSUES for ASS1 Gene

  • Intestine(4.8)
  • Liver(4.8)
  • Muscle(4.8)
  • Kidney(4.6)
  • Nervous system(4.4)
  • Lung(3.7)
  • Eye(3)
  • Skin(2.8)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ASS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • urinary
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
  • lung
Abdomen:
  • kidney
  • liver
  • stomach
General:
  • blood
genes like me logo Genes that share expression patterns with ASS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 33 32
  • 99.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gm5424 33
  • 97 (a)
OneToMany
Ass1 17 33 32
  • 89.08 (n)
dog
(Canis familiaris)
Mammalia ASS1 33 32
  • 92.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ASS1 33 32
  • 91.75 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ass1 32
  • 89.64 (n)
oppossum
(Monodelphis domestica)
Mammalia ASS1 33
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASS1 33
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASS1 33 32
  • 79.14 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ass1 32
  • 75.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia ass-prov 32
zebrafish
(Danio rerio)
Actinopterygii ass1 33 32
  • 74.39 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4283 32
fruit fly
(Drosophila melanogaster)
Insecta CG1315 33 32
  • 61.18 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ASSY_ANOGA 32
  • 60.79 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER230C 32
  • 55.19 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04037g 32
  • 54.02 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG1 35 33 32
  • 53.5 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24830 32
  • 52.99 (n)
rice
(Oryza sativa)
Liliopsida Os12g0235800 32
  • 53.4 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.9270 32
corn
(Zea mays)
Liliopsida Zm.3261 32
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 63 (a)
OneToOne
Cin.2241 32
bread mold
(Neurospora crassa)
Ascomycetes NCU02639 32
  • 60.5 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes arg12 32
  • 55.95 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2241 32
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)
Aminode:
Evolutionary constrained regions (ECRs) for ASS1: view image

Paralogs for ASS1 Gene

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

  • ASSY_HUMAN
  • Q5T6L5_HUMAN
  • Q5T6L6_HUMAN
  • Q5T6L7_HUMAN
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 Variation AA Info Type
rs1004492719 likely-pathogenic, Citrullinemia type I 130,466,762(+) GGTTCAAGGG/GG coding_sequence_variant, frameshift
rs1057484 benign, likely-benign, not specified, Citrullinemia type I, not provided 130,489,370(+) T/C coding_sequence_variant, synonymous_variant
rs1057516338 likely-pathogenic, Citrullinemia type I 130,494,873(+) GG/G coding_sequence_variant, frameshift
rs1057516339 likely-pathogenic, Citrullinemia type I 130,464,159(+) C/T coding_sequence_variant, stop_gained
rs1057516544 likely-pathogenic, Citrullinemia type I 130,464,110(+) GGGG/GGG coding_sequence_variant, splice_acceptor_variant

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)

Additional Variant Information for ASS1 Gene

Human Gene Mutation Database (HGMD)
ASS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASS1

SNP Genotyping and Copy Number Assay Products

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

Disorders for ASS1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for ASS1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
citrullinemia, classic
  • citrullinemia, type i; ctln1
acute neonatal citrullinemia type i
  • acute neonatal citrullinemia type 1
adult-onset citrullinemia type i
  • adult-onset citrullinemia type 1
argininosuccinic aciduria
  • argininosuccinase deficiency
postpartum psychosis
  • puerperal psychosis
- 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:15863597, ECO:0000269 PubMed:16475226, ECO:0000269 PubMed:18473344, ECO:0000269 PubMed:19006241, ECO:0000269 PubMed:1943692, ECO:0000269 PubMed:2358466, ECO:0000269 PubMed:23611581, ECO:0000269 PubMed:24889030, ECO:0000269 PubMed:25179242, ECO:0000269 PubMed:27287393, ECO:0000269 PubMed:28111830, ECO:0000269 PubMed:7977368}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ASS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 … Häberle J (Human mutation 2009) 3 4 23 56
  2. Investigation of citrullinemia type I variants by in vitro expression studies. (PMID: 18473344) Berning C … Häberle J (Human mutation 2008) 3 4 23 56
  3. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. (PMID: 12815590) Gao HZ … Saheki T (Human mutation 2003) 3 4 23 56
  4. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. (PMID: 11941481) Häberle J … Koch HG (Human genetics 2002) 3 4 23 56
  5. 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 56

Products for ASS1 Gene

Sources for ASS1 Gene