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GIFtS

ASS1 Gene

protein-coding   GIFtS: 70
GCID: GC09P133320

Argininosuccinate Synthase 1

(Previous name: argininosuccinate synthetase)
(Previous symbol: ASS)
Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Argininosuccinate Synthase 11 2     CTLN12
ASS1 2 3 5     Argininosuccinate Synthase2
Citrulline--Aspartate Ligase2 3     Argininosuccinate Synthetase 12
EC 6.3.4.53 8     Citrulline-Aspartate Ligase2
Argininosuccinate Synthetase1     

External Ids:    HGNC: 7581   Entrez Gene: 4452   Ensembl: ENSG000001307077   OMIM: 6034705   UniProtKB: P009663   

Export aliases for ASS1 gene to outside databases

Previous GC identifers: GC09P132310 GC09P102805


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 citrullinemia type i, and among its related super-pathways are Urea cycle and Metabolic pathways. GO annotations related to this gene include protein binding and ATP binding.

UniProtKB/Swiss-Prot: ASSY_HUMAN, P00966
Function: Is indirectly involved in the control of blood pressure (By similarity)

Gene Wiki entry for ASS1 (Argininosuccinate synthetase 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_035014.4  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASS1 gene promoter:
         Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ASS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.1   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.1

ASS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASS1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P133320:  view genomic region     (about GC identifiers)

Start:
133,320,094 bp from pter      End:
133,376,661 bp from pter
Size:
56,568 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ASSY_HUMAN, P00966 (See protein sequence)
Recommended Name: Argininosuccinate synthase  
Size: 412 amino acids; 46530 Da
Subunit: Homotetramer. Interacts with NMRAL1
1 PDB 3D structure from and Proteopedia for ASS1:
2NZ2 (3D)    
Secondary accessions: Q6LDL2 Q86UZ0 Q96GT4

Explore the universe of human proteins at neXtProt for ASS1: NX_P00966

Explore proteomics data for ASS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P00966

  • 4/20 DME Specific Peptides for ASS1 (P00966) (see all 20)
     KSRGIYE  TGKGNDQ  KVIAPWR  GTSLARP 

    ASS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ASS1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000041.2  NP_446464.1  

    ENSEMBL proteins: 
     ENSP00000253004   ENSP00000361471   ENSP00000361469   ENSP00000394212   ENSP00000397785  
     ENSP00000361461  
    Reactome Protein details: P00966
    Human Recombinant Protein Products for ASS1: 
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    Novus Biologicals ASS1 Proteins
    Novus Biologicals ASS1 Lysates
    Browse Sino Biological Recombinant Proteins
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    ProSpec Recombinant Protein for ASS1
    Cloud-Clone Corp. Proteins for ASS1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS6194510
    GO:0005829cytosol TAS--

    ASS1 for ontologies           About GeneDecksing



    ASS1 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for ASS1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR018223 Arginosuc_synth_CS
     IPR001518 Arginosuc_synth
     IPR014729 Rossmann-like_a/b/a_fold
     IPR023434 Arginosuc_synth_type_1_subfam
     IPR024074 AS_cat/multimer_dom_body

    Graphical View of Domain Structure for InterPro Entry P00966

    ProtoNet protein and cluster: P00966

    1 Blocks protein domain: IPB001518 Argininosuccinate synthase

    UniProtKB/Swiss-Prot: ASSY_HUMAN, P00966
    Similarity: Belongs to the argininosuccinate synthase family. Type 1 subfamily


    ASS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASSY_HUMAN, P00966
    Function: Is indirectly involved in the control of blood pressure (By similarity)
    Catalytic activity: ATP + L-citrulline + L-aspartate = AMP + diphosphate + N(omega)-(L-arginino)succinate

         Enzyme Number (IUBMB): EC 6.3.4.51 2

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004055argininosuccinate synthase activity EXP--
    GO:0004066asparagine synthase (glutamine-hydrolyzing) activity ----
    GO:0005515protein binding IPI12620389
    GO:0005524ATP binding IEA--
         
    ASS1 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ass1):
     behavior/neurological  cellular  growth/size  hearing/vestibular/ear  homeostasis/metabolism 
     integument  mortality/aging  nervous system  vision/eye 

    ASS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ass1tm1Bay for ASS1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ASS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ASS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ASS1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ASS1 

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate ASS1:
    hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidASS1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): ASS1 (NM_054012)
    Sino Biological Human cDNA Clone for ASS1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASS1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ASS1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1glutamate degradation X
    urea cycle0.56
    arginine biosynthesis IV0.38
    Urea cycle0.56
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Arginine and proline metabolism
    Arginine and proline metabolism0.35
    Urea cycle and metabolism of amino groups0.35
    4glutamine degradation I
    superpathway of citrulline metabolism0.50
    citrulline-nitric oxide cycle0.43
    5Carbon metabolism
    Biosynthesis of amino acids0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6 BioSystems Pathways for ASS1 (see all 6)
        Alanine and aspartate metabolism
    citrulline-nitric oxide cycle
    arginine biosynthesis IV
    Urea cycle and metabolism of amino groups
    superpathway of citrulline metabolism


    3        Reactome Pathways for ASS1
        Metabolism
    Metabolism of amino acids and derivatives
    Urea cycle


    4         Kegg Pathways  (Kegg details for ASS1):
        Alanine, aspartate and glutamate metabolism
    Arginine and proline metabolism
    Metabolic pathways
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: ASSY_HUMAN, P00966
    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


    ASS1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ASS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/89 Interacting proteins for ASS1 (P009661, 2, 3 ENSP000002530044) via UniProtKB, MINT, STRING, and/or I2D (see all 89)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARAFP103981, 2, 3, ENSP000003662444EBI-536842,EBI-365961 MINT-19320 I2D: score=6 STRING: ENSP00000366244
    YWHAZP631042, 3, ENSP000003095034MINT-3319181 I2D: score=1 STRING: ENSP00000309503
    AKTIPQ9H8T03, ENSP000003002454I2D: score=4 STRING: ENSP00000300245
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    ASLP044243, ENSP000003071884I2D: score=1 STRING: ENSP00000307188
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000050urea cycle TAS--
    GO:0006526arginine biosynthetic process IEA--
    GO:0006529asparagine biosynthetic process ----
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    ASS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ASS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ASS1 (ASSY)

    9 HMDB Compounds for ASS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Argininosuccinic acidArgininosuccinate (see all 27)2387-71-5--
    CanavaninosuccinateCanavaninosuccinic acid 56073-32-6--
    Citrulline(2S)-2-amino-5-(carbamoylamino)pentanoic acid (see all 55)372-75-8--
    L-Arginine(S)-2-Amino-5-[(aminoiminomethyl)amino]pentanoate (see all 14)74-79-3--
    L-Aspartic acid(+)-Aspartate (see all 41)56-84-8--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    2 DrugBank Compounds for ASS1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--15588718 17139284 2791302 17016423 17869551
    L-Citrulline2-Amino-5-uredovaleric acid (see all 8)372-75-8target--17427379 9879717 12445581 12709047 16449956

    10/26 Novoseek inferred chemical compound relationships for ASS1 gene (see all 26)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    citrulline 92.7 52 12888832 (3), 18323623 (2), 18473854 (2), 18661517 (2) (see all 34)
    carbamoyl phosphate 78.2 11 8464164 (1), 9874001 (1), 19000307 (1), 15164414 (1) (see all 9)
    arginine 77.9 134 20104527 (6), 19533750 (5), 18661517 (5), 14770441 (5) (see all 46)
    urea 75.3 58 19217439 (3), 8199693 (2), 1467433 (1), 9874001 (1) (see all 32)
    ornithine 71.4 23 9874001 (2), 8464164 (1), 10869432 (1), 20025860 (1) (see all 14)
    nitric oxide 53.7 36 9806879 (2), 10709858 (2), 11292368 (2), 11556547 (2) (see all 18)
    adenylosuccinate 53.4 1 11810243 (1)
    delta(1)pyrroline-5-carboxylate 52.4 1 15302078 (1)
    guanidinoacetate 51.4 4 16580861 (3)
    aspartate 38.2 8 18323623 (2), 2372928 (1), 17354380 (1), 18661517 (1) (see all 6)

    2 PharmGKB related drug/compound annotations for ASS1 gene    About this table
    Drug/compound PharmGKB Annotation
    phenylacetic acid
    sodium benzoate

    Search CenterWatch for drugs/clinical trials and news about ASS1 / ASSY

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ASS1 gene (2 alternative transcripts): 
    NM_000050.4  NM_054012.3  

    Unigene Cluster for ASS1:

    Argininosuccinate synthase 1
    Hs.160786  [show with all ESTs]
    Unigene Representative Sequence: AK027126
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000352480 ENST00000372394(uc010mza.3) ENST00000372393 ENST00000422569
    ENST00000443588 ENST00000467695 ENST00000493984 ENST00000492400 ENST00000470849
    ENST00000372386
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK027126.1 AK125730.1 AK293114.1 AK304625.1 AK315093.1 BC009243.2 BC013224.1 BC021676.1 
    BC129942.1 X01630.1 Z36810.1 

    24/38 DOTS entries (see all 38):

    DT.95173871  DT.119979  DT.95173856  DT.100678262  DT.91771692  DT.91827937  DT.95120177  DT.100678270 
    DT.95173857  DT.95173853  DT.100861593  DT.120866750  DT.100678266  DT.121174157  DT.100061073  DT.100678274 
    DT.102828467  DT.91937962  DT.100042567  DT.100678275  DT.120758135  DT.95234117  DT.100061074  DT.100637827 

    24/867 AceView cDNA sequences (see all 867):

    BI256559 BE673155 AA315248 BE547996 CA488055 CR606338 AU143326 CA426978 
    BE780945 BG474110 BI256461 CR615955 BF197120 BX334787 BI256793 BX417933 
    AW001456 CB154297 W69320 CA427043 BU175592 BQ421259 CR616527 BE251389 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ASS1 (see all 11)    About this scheme

    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:                                      -     -           -                             -                                                                     

    ExUns: 17a · 17b ^ 18 ^ 19a · 19b · 19c
    SP1:                                    
    SP2:                                    
    SP3:  -                                 
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for ASS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ASS1 expression in normal human tissues (normalized intensities)      ASS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACGTGCAGG
    ASS1 Expression
    About this image


    ASS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/42 selected tissues (see all 42) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             Human Brain Vascular Smooth Muscle Cells (HBVSMC)   
             brain/midbrain   
     
     Epithelium (Reproductive System)    fully expand to see all 4 entries
             cervix, uterine ; squamous epithelial cells   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Uterus
             cervix, uterine ; glandular cells   
             cervix   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   

    See ASS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASS1

    SOURCE GeneReport for Unigene cluster: Hs.160786
        SABiosciences Expression via Pathway-Focused PCR Array including ASS1: 
              Amino Acid Metabolism I in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ASS1 gene from 8/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ass11 , 5 argininosuccinate synthetase 11, 5 89.08(n)1
    96.84(a)1
      2 (21.81 cM)5
    118981  NM_007494.31  NP_031520.11 
     314702075 
    chicken
    (Gallus gallus)
    Aves ASS11 argininosuccinate synthase 1 79.14(n)
    79.22(a)
      417185  NM_001013395.1  NP_001013413.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia ass-prov2 arginosuccinate synthetase 1 78.54(n)    BC046941.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ass11 argininosuccinate synthetase 1 74.39(n)
    77.07(a)
      447864  NM_001004603.1  NP_001004603.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG13151 CG1315 61.18(n)
    55.36(a)
      40812  NM_141417.3  NP_649674.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARG1(YOL058W)4
    ARG11
    Arginosuccinate synthetase, catalyzes the formation more4
    Arg1p1
    53.33(n)1
    51.5(a)1
      15(219211-220473)4
    8540961, 4  NP_014583.21  NP_014583.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G248301 argininosuccinate synthase 52.9(n)
    47.27(a)
      828586  NM_118616.4  NP_194214.2 
    rice
    (Oryza sativa)
    Liliopsida Os12g02358001 hypothetical protein 53.4(n)
    48.17(a)
      4351847  NM_001072991.1  NP_001066459.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASS1 gene
    2 SIMAP similar genes for ASS1 using alignment to 4 protein entries:     ASSY_HUMAN (see all proteins):
    ASS    LOC402295

    ASS1 for paralogs           About GeneDecksing


    5/15 Pseudogenes.org Pseudogenes for ASS1 (see all 15)
    PGOHUM00000242888 PGOHUM00000239734 PGOHUM00000240018 PGOHUM00000237873 PGOHUM00000245726


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1407 SNPs in ASS1 are shown (see all 1407)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0160094
    Citrullinemia 1 (CTLN1)4--see VAR_0160092 K Q mis40--------
    VAR_0159034
    Citrullinemia 1 (CTLN1)4--see VAR_0159032 K R mis40--------
    VAR_0159004
    Citrullinemia 1 (CTLN1)4--see VAR_0159002 R H mis40--------
    VAR_0583514
    Citrullinemia 1 (CTLN1)4--see VAR_0583512 T I mis40--------
    VAR_0158944
    Citrullinemia 1 (CTLN1)4--see VAR_0158942 P S mis40--------
    VAR_0006814
    Citrullinemia 1 (CTLN1)4--see VAR_0006812 G S mis40--------
    VAR_0583394
    Citrullinemia 1 (CTLN1)4--see VAR_0583392 P H mis40--------
    VAR_0006944
    Citrullinemia 1 (CTLN1)4--see VAR_0006942 G R mis40--------
    VAR_0006924
    Citrullinemia 1 (CTLN1)4--see VAR_0006922 R L mis40--------
    VAR_0006884
    Citrullinemia 1 (CTLN1)4--see VAR_0006882 R C mis40--------

    HapMap Linkage Disequilibrium report for ASS1 (133320094 - 133376661 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for ASS1 (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1002962CNV Deletion20482838
    dgv8305n71CNV Loss21882294
    nsv893946CNV Loss21882294
    nsv893951CNV Loss21882294
    nsv893943CNV Loss21882294
    nsv893935CNV Loss21882294
    nsv6734CNV Loss18451855
    nsv893956CNV Loss21882294
    nsv466600CNV Loss19166990
    nsv893955CNV Loss21882294


    Human Gene Mutation Database (HGMD): ASS1

    Locus Specific Mutation Databases (LSDB): ASS1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603470   
    OMIM disorders: 215700  
    UniProtKB/Swiss-Prot: ASSY_HUMAN, P00966
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/56 diseases for ASS1 (see all 56):    About MalaCards
    citrullinemia    citrullinemia type i    short-chain acyl-coa dehydrogenase deficiency    isolated acth deficiency
    argininosuccinic aciduria    lysinuric protein intolerance    hyperargininemia    urea cycle disorder
    hyperlysinemia    propionic acidemia    citrin deficiency    dystonia musculorum deformans
    ornithine carbamoyltransferase deficiency    reye syndrome    acth deficiency    hepatic encephalopathy
    nail-patella syndrome    waardenburg's syndrome    myxoid chondrosarcoma    essential tremor

    1 disease from the University of Copenhagen DISEASES database for ASS1:
    Urea cycle disorder

    ASS1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/26 Novoseek inferred disease relationships for ASS1 gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    citrullinemia 98.5 122 8105687 (5), 14770441 (4), 7556646 (3), 14680976 (3) (see all 55)
    citrullinemia classical 95.8 9 9090528 (2), 8419623 (1), 18473344 (1), 7557970 (1) (see all 6)
    ctln2 92.8 23 11153906 (2), 10369257 (2), 12602510 (1), 14606711 (1) (see all 10)
    argininosuccinate lyase deficiency 90.5 9 16580861 (2), 10869432 (1), 15164414 (1), 19217439 (1) (see all 6)
    hyperammonemia 84.8 10 10097149 (1), 12542919 (1), 15347874 (1), 7699832 (1) (see all 7)
    carbamoyl phosphate synthetase deficiency 80.9 1 1720458 (1)
    lysinuric protein intolerance 75.4 2 1568044 (1), 12450676 (1)
    ornithine transcarbamylase deficiency 70.2 4 10869432 (1), 15164414 (1), 20299258 (1)
    orotic aciduria 69.2 1 17513443 (1)
    hyperargininemia 66.2 1 15164414 (1)

    GeneTests: ASS1
    GeneReviews: ASS1
    Genetic Association Database (GAD): ASS1
    Human Genome Epidemiology (HuGE) Navigator: ASS1 (5 documents)

    Export disorders for ASS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ASS1 gene, integrated from 9 sources (see all 230):
    (articles sorted by number of sources associating them with ASS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells. (PubMed id 8792870)1, 2, 9 Shaheen N....Saheki T. (1995)
    2. Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. (PubMed id 19006241)1, 2, 9 Engel K.... Haeberle J. (2009)
    3. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. (PubMed id 12815590)1, 2, 9 Gao H.-Z.... Saheki T. (2003)
    4. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. (PubMed id 11941481)1, 2, 9 Haeberle J.... Koch H.G. (2002)
    5. Additional mutations in argininosuccinate synthetase causing citrullinemia. (PubMed id 1943692)1, 2, 9 Kobayashi K.... O'Brien W.E. (1991)
    6. Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. (PubMed id 2358466)1, 2, 9 Kobayashi K.... Beaudet A.L. (1990)
    7. Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. (PubMed id 7977368)1, 2, 9 Kobayashi K.... Saheki T. (1994)
    8. Polymorphic variants of genes related to arginine met abolism and the risk of orofacial clefts. (PubMed id 20739017)1, 4 Hozyasz K.K....Jagodzinski P.P. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 445 HGNC: 758 AceView: ASS Ensembl:ENSG00000130707 euGenes: HUgn445
    ECgene: ASS1 Kegg: 445 H-InvDB: ASS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ASS1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ASS1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ASS1 gene:
    Search GeneIP for patents involving ASS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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