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GIFtS

ASS1 Gene

protein-coding   GIFtS: 67
GCID: GC09P133320

argininosuccinate synthase 1

(Previous name: argininosuccinate synthetase )
(Previous symbol: ASS)
 Explore 59 diseases affiliated with
ASS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ASS1    

Aliases
for ASS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Argininosuccinate Synthase 11 2     Argininosuccinate Synthetase1
ASS1 2 3 5     Argininosuccinate Synthase2
CTLN11 2     Argininosuccinate Synthetase 12
Citrulline--Aspartate Ligase2 3     Citrulline-Aspartate Ligase2
EC 6.3.4.53 8     

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


Summaries
for ASS1 gene

(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:
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)

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)


Genomic Views
for ASS1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_035014.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASS1 gene promoter:
         Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ASS1 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

Proteins
for ASS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000253004   ENSP00000361471   ENSP00000361469   ENSP00000394212   ENSP00000397785  
     ENSP00000361461   ENSP00000361470  
    Reactome Protein details: P00966
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Proteins (see all 2): ASS1
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    Novus Biologicals ASS1 Proteins
    Novus Biologicals ASS1 Lysates
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    ProSpec Recombinant Protein for ASS1
    Uscn Proteins for ASS1

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm TAS6194510
    GO:0005741mitochondrial outer membrane ----
    GO:0005764lysosome ----
    GO:0005783endoplasmic reticulum ----


    ASS1 for ontologies           About GeneDecksing



    ASS1 Antibody Products: 
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    Uscn Antibodies for ASS1
    ThermoFisher Antibody for ASS1

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    Uscn ELISAs and CLIAs for ASS1

    Protein Domains /
    Families
    for ASS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ASS1 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: IPB001518 Argininosuccinate synthase

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


    Function
    for ASS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASS1
    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 plasmid: ASS1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ASS1 (see all 7)
    OriGene shRNA RFP: ASS1
    OriGene siRNA: ASS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASS1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ASS1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASS1 (see all 4)
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    GenScript: all cDNA clones in your preferred vector (see all 2): ASS1 (NM_054012)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASS1 

    Cell Line
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    Search LifeMap BioReagents cell lines for ASS1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASS1

    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:0005515protein binding IPI12620389
    GO:0005524ATP binding IEA--
    GO:0015643toxin binding ----


    ASS1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Ass1tm1Bay for ASS1
         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


    Pathways & Interactions
    for ASS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1glutamate degradation X
    		arginine biosynthesis IV0.33
    		Urea cycle0.00
    		urea cycle0.00
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Arginine and proline metabolism
    		Arginine and proline metabolism1.00
    		Urea cycle and metabolism of amino groups0.36
    4superpathway of citrulline metabolism
    		superpathway of citrulline metabolism1.00
    		citrulline-nitric oxide cycle0.40
    5Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

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


    3         Kegg Pathways  (Kegg details for ASS1):
        Alanine, aspartate and glutamate metabolism
    Arginine and proline metabolism
    Metabolic pathways

    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): 5/36 biological process terms (GO ID links to tree view) (see all 36):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000050urea cycle TAS--
    GO:0000053argininosuccinate metabolic process ----
    GO:0001101response to acid ----
    GO:0001822kidney development ----
    GO:0001889liver development ----


    ASS1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ASS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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
    Drug/compound PharmGKB Annotation
    phenylacetic acidDL  
    sodium benzoateDL  
    About this table

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

    Transcripts
    for ASS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000352480 ENST00000372394(uc010mza.3) ENST00000372393 ENST00000422569
    ENST00000443588 ENST00000467695 ENST00000493984 ENST00000492400 ENST00000470849
    ENST00000372386 ENST00000334909(uc004bzm.3 uc004bzn.3)

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: ASS1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASS1

    Additional cDNA 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):

    BG392449 BU500199 CR595936 BI257913 AA430025 AI459387 BE745841 BU628702 
    CB161999 AA612954 BI758987 AI921791 CR604563 AI347560 AV647848 BM552180 
    AW802373 BX417933 BQ229554 BQ183612 CR605897 AV655824 BU194440 BI258834 

    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

    Expression
    for ASS1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACGTGCAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ASS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerCholinergic Amacrine CellsAmacrine, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    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

    Primer
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    In Situ
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    Orthologs
    for ASS1 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for ASS1 gene from 9/36 species (see all 36)    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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria argG6
    		 argininosuccinate synthetase
    		 23(a)
    		 1 ↔ 1
    		 Chromosome(3316659-3318002)


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

    Paralogs
    for ASS1 gene

    (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


    Genomic Variants
    for ASS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1055 NCBI SNPs in ASS1 are shown (see all 1055)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs352690641,2
    		C,F,pathogenic102819582(+) CCAGCG/TGGAGG 4 R L mis14Minor allele frequency- T:0.01NA CSA 4474
    rs1219086371,2
    		Cpathogenic102827822(+) GGGCCG/ACAATG 4 /H /R mis11Minor allele frequency- A:0.00NA 4548
    rs1219086461,2
    		C,pathogenic102831921(+) ACCCGT/CGGAGC 4 /R /W mis11Minor allele frequency- C:0.00NA 4552
    rs1219086451,2
    		Cpathogenic102841474(+) AGTCCC/TGAGGT 4 R * stg10--------
    rs1219086411,2
    		C,Fpathogenic102860596(+) CCACCG/AGGTTC 4 /R /G mis11Minor allele frequency- A:0.00NA 4546
    rs756038921,2
    		--102804548(+) AGCTCC/TGCTCT 2 -- us2k13Minor allele frequency- T:0.08CSA WA 121
    rs112443641,2
    		--102804570(+) gctgtA/Gtggcc 2 -- us2k10--------
    rs123522161,2
    		C,F,H,--102805221(+) GAGCCG/AGCTGA 2 -- us2k110Minor allele frequency- A:0.09NS NA CSA WA 1294
    rs112443671,2
    		C,F,H,--102805306(+) TCTTTT/GACTGG 2 -- us2k117Minor allele frequency- G:0.12NS EA NA WA CSA 2220
    rs78546161,2
    		C,F,A,--102805471(+) TCTAGT/AGGGTT 2 -- us2k11Minor allele frequency- A:0.09WA 118

    HapMap Linkage Disequilibrium report for ASS1 (133320094 - 133376661 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ASS1
         1 CNV: 36921
         1 Indel: 41208
    Human Gene Mutation Database (HGMD): ASS1

    Locus Specific Mutation Databases (LSDB): ASS1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ASS1
    DNA2.0 Custom Variant and Variant Library Synthesis for ASS1

    Disorders / Diseases
    for ASS1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ASS1 for disorders           About GeneDecksing

    OMIM gene information: 603470   
    OMIM disorders: 215700  
    UniProtKB/Swiss-Prot: ASSY_HUMAN, P00966
  • Defects in ASS1 are the cause of citrullinemia type 1 (CTLN1) [MIM:215700]. Citrullinemia belongs to the urea
    • cycle disorders. It is an autosomal recessive disease characterized primarily by elevated serum and urine citrulline
    levels. Ammonia intoxication is another manifestation. CTLN1 usually manifests 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 CTLN1 form can develop later in
    childhood or adulthood

    20/59 diseases for ASS1 (see all 59):    About MalaCards
    short-chain acyl-coa dehydrogenase deficiency    citrullinemia    acyl-coa dehydrogenase    lysinuric protein intolerance
    dystonia musculorum deformans    propionic acidemia    ornithine carbamoyltransferase deficiency    urea cycle disorder
    nail-patella syndrome    open-angle glaucoma    isolated acth deficiency    argininosuccinic aciduria
    acth deficiency    hyperargininemia    malignant pleural mesothelioma    citrin deficiency
    myxoid chondrosarcoma    orofacial cleft    hyperlysinemia    autosomal recessive disease

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

    10/26 Novoseek 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
    Citrullinemia Type I

    Human Genome Epidemiology (HuGE) Navigator: ASS1 (5 documents)

    Export disorders for ASS1 gene to outside databases

    Publications
    for ASS1 gene

    (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 225):
    (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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PubMed id 11708871)1, 2 Vilaseca M.A.... Saheki T. (2001)

    External Searches for ASS1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing ASS1 gene

    (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

    Other Databases showing ASS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ASS1 gene

    (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

    Intellectual Property
    for ASS1 gene

    (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



    Products
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