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CSAD Gene

protein-coding   GIFtS: 58
GCID: GC12M053551

Cysteine Sulfinic Acid Decarboxylase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cysteine Sulfinic Acid Decarboxylase1 2     EC 4.1.1.293 8
P-Selectin Cytoplasmic Tail-Associated Protein1 2     PCAP2
Cysteine-Sulfinate Decarboxylase2 3     Cysteine Sulfinic Acid Decarboxylase-Related Protein2
Sulfinoalanine Decarboxylase2 3     EC 4.1.18
CSD2 3     

External Ids:    HGNC: 189661   Entrez Gene: 513802   Ensembl: ENSG000001396317   UniProtKB: Q9Y6003   

Export aliases for CSAD gene to outside databases

Previous GC identifers: GC12M053710 GC12M053465 GC12M053268 GC12M051837 GC12M050594


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CSAD Gene:
This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in
multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation
of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have
been observed for this gene. (provided by RefSeq, Sep 2011)

GeneCards Summary for CSAD Gene:
CSAD (cysteine sulfinic acid decarboxylase) is a protein-coding gene. Diseases associated with CSAD include disuse amblyopia, and stiff-person syndrome. GO annotations related to this gene include pyridoxal phosphate binding and sulfinoalanine decarboxylase activity. An important paralog of this gene is DDC.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CSAD gene promoter:
         E2F-4   E2F-3a   E2F-5   RP58   E2F-2   Tal-1beta   E47   HEN1   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CSAD promoter sequence
   Search Chromatin IP Primers for CSAD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CSAD


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

Entrez Gene cytogenetic band: 12q13.11-q14.3   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.11-q14.3

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M053551:  view genomic region     (about GC identifiers)

Start:
53,551,447 bp from pter      End:
53,575,135 bp from pter
Size:
23,689 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CSAD_HUMAN, Q9Y600 (See protein sequence)
Recommended Name: Cysteine sulfinic acid decarboxylase  
Size: 493 amino acids; 55023 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer
Sequence caution: Sequence=AAD32546.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH98278.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH98342.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH99717.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=AAI05919.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for CSAD:
2JIS (3D)    
Secondary accessions: A8K0U4 Q4QQH9 Q9UNJ5 Q9Y601
Alternative splicing: 3 isoforms:  Q9Y600-1   Q9Y600-2   Q9Y600-3   (No experimental confirmation available. Ref.4 (AAH98342) sequence is in conflict in position: 9:F->S)

Explore the universe of human proteins at neXtProt for CSAD: NX_Q9Y600

Explore proteomics data for CSAD at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CSAD (Q9Y600) (see all 7)
     YLFQQDK  PGGSISN  HPRFFNQL  VPFLVSAT 


    See CSAD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001231634.1  NP_001231635.1  NP_057073.4  

    ENSEMBL proteins: 
     ENSP00000267085   ENSP00000436800   ENSP00000369179   ENSP00000369175   ENSP00000415485  
     ENSP00000410648   ENSP00000449373   ENSP00000455618   ENSP00000390269   ENSP00000415314  
     ENSP00000401078   ENSP00000457264   ENSP00000369172   ENSP00000439419  
    Reactome Protein details: Q9Y600

    CSAD Human Recombinant Protein Products:

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    Novus Biologicals CSAD Protein
    Novus Biologicals CSAD Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for CSAD

    CSAD Antibody Products:

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    Novus Biologicals CSAD Antibodies
    Search for Antibodies for CSAD at Abcam
    Cloud-Clone Corp. Antibodies for CSAD
    Search ThermoFisher Antibodies for CSAD
    LSBio Antibodies in human, mouse, rat for CSAD

    CSAD Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CSAD
    Cloud-Clone Corp. CLIAs for CSAD


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR002129 PyrdxlP-dep_de-COase
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR015424 PyrdxlP-dep_Trfase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1

    Graphical View of Domain Structure for InterPro Entry Q9Y600

    ProtoNet protein and cluster: Q9Y600

    UniProtKB/Swiss-Prot: CSAD_HUMAN, Q9Y600
    Similarity: Belongs to the group II decarboxylase family


    CSAD 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CSAD_HUMAN, Q9Y600
    Catalytic activity: 3-sulfino-L-alanine = hypotaurine + CO(2)

         Enzyme Numbers (IUBMB): EC 4.1.1.291 2 EC 4.1.12

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004782sulfinoalanine decarboxylase activity IEA--
    GO:0016829lyase activity ----
    GO:0016831carboxy-lyase activity ----
    GO:0030170pyridoxal phosphate binding IEA--
         
    CSAD for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CSAD
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CSAD
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CSAD

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CSAD (see all 13):
    hsa-miR-3685 hsa-miR-30c hsa-miR-3924 hsa-miR-30d hsa-miR-664 hsa-miR-337-3p hsa-miR-1305 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidCSAD 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CSAD
    Predesigned siRNA for gene silencing in human, mouse, rat CSAD

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for CSAD

    Clone
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    OriGene clones in human, mouse for CSAD (see all 10)
    OriGene ORF clones in mouse, rat for CSAD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CSAD (NM_015989)
    Sino Biological Human cDNA Clone for CSAD
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CSAD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSAD

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CSAD 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSAD


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum2
    extracellular2
    mitochondrion2
    cytosol1
    lysosome1
    nucleus1

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CSAD About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Sulfur amino acid metabolism
    Sulfur amino acid metabolism0.35
    taurine biosynthesis0.00
    Degradation of cysteine and homocysteine0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Taurine and hypotaurine metabolism
    Taurine and hypotaurine metabolism0.31
    4Trans-sulfuration pathway
    Trans-sulfuration pathway
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for CSAD
        Beta-alanine metabolism

    2 BioSystems Pathways for CSAD
        Trans-sulfuration pathway
    taurine biosynthesis


    1 Reactome Pathway for CSAD
        Degradation of cysteine and homocysteine


    2 Kegg Pathways  (Kegg details for CSAD):
        Taurine and hypotaurine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: CSAD_HUMAN, Q9Y600
    Pathway: Organosulfur biosynthesis; taurine biosynthesis; hypotaurine from L-cysteine: step 2/2


    CSAD for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CSAD
    Interactions:

        Search GeneGlobe Interaction Network for CSAD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for CSAD (Q9Y6002, 3 ENSP000002670854) via UniProtKB, MINT, STRING, and/or I2D (see all 31)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3MINT-8271025 I2D: score=2 
    SMN2Q166372, 3MINT-8271025 I2D: score=2 
    ANXA1P040832, 3MINT-8247775 I2D: score=2 
    ANXA7P200732, 3MINT-8248230 I2D: score=2 
    CDKN1AP389362, 3MINT-8251760 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS--
    GO:0000098sulfur amino acid catabolic process TAS--
    GO:0006520cellular amino acid metabolic process ----
    GO:0008152metabolic process ----
    GO:0019752carboxylic acid metabolic process ----

    CSAD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CSAD

    8 HMDB Compounds for CSAD    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Sulfinoalanine3-Sulphino-L-alanine (see all 9)1115-65-7--
    5-L-Glutamyl-taurine5-Glutamyl-taurine ----
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Cysteic acid2-Amino-3-sulfopropionate (see all 19)498-40-8--
    Hypotaurine2-Aminoethylsulfinate (see all 9)300-84-5--
    L-Cysteine(+)-2-Amino-3-mercaptopropionic acid (see all 37)52-90-4--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--
    Taurine1-Aminoethane-2-sulfonate (see all 14)107-35-7--

    1 DrugBank Compound for CSAD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor17139284 17016423 15070923

    6 Novoseek inferred chemical compound relationships for CSAD gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine sulfinic acid 98 51 8740442 (5), 11455199 (3), 12436215 (3), 8912862 (2) (see all 21)
    taurine 81 38 8740442 (3), 10936171 (2), 9635049 (2), 12905652 (2) (see all 12)
    hypotaurine 77.3 3 8740442 (2)
    cysteine 48.8 9 14992268 (1), 10936171 (1), 11008216 (1), 12436215 (1) (see all 5)
    glutamate 32.8 7 11455199 (2), 8912862 (1), 9635049 (1)
    nitric oxide 0 2 11455199 (2)



    CSAD for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CSAD gene (3 alternative transcripts): 
    NM_001244705.1  NM_001244706.1  NM_015989.4  

    Unigene Cluster for CSAD:

    Cysteine sulfinic acid decarboxylase
    Hs.279815  [show with all ESTs]
    Unigene Representative Sequence: NM_015989
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000267085(uc009zmt.3 uc010snx.2 uc001sby.3 uc001sbz.3)
    ENST00000475890(uc021qyd.1) ENST00000379850 ENST00000379846 ENST00000444623
    ENST00000453446 ENST00000490923 ENST00000490589 ENST00000485004 ENST00000548698
    ENST00000483632 ENST00000472908 ENST00000454442 ENST00000424845 ENST00000437073
    ENST00000491654 ENST00000424990 ENST00000498635
    miRNA
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    Block miRNA regulation of human, mouse, rat CSAD using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CSAD (see all 13):
    hsa-miR-3685 hsa-miR-30c hsa-miR-3924 hsa-miR-30d hsa-miR-664 hsa-miR-337-3p hsa-miR-1305 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidCSAD 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CSAD
    Predesigned siRNA for gene silencing in human, mouse, rat CSAD
    Clone
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    OriGene clones in human, mouse for CSAD (see all 10)
    OriGene ORF clones in mouse, rat for CSAD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CSAD (NM_015989)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CSAD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSAD
    Primer
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    OriGene qPCR primer pairs and template standards for CSAD
    OriGene qSTAR qPCR primer pairs in human, mouse for CSAD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CSAD
      QuantiTect SYBR Green Assays in human, mouse, rat CSAD
      QuantiFast Probe-based Assays in human, mouse, rat CSAD

    Additional mRNA sequence: 

    AB044561.1 AF116545.1 AF116546.1 AF116547.1 AF116548.1 AK122681.1 AK289659.1 AK315265.1 
    BC052249.1 BC098278.1 BC098342.1 BC099717.1 BC105918.1 

    12 DOTS entries:

    DT.99996082  DT.95120528  DT.108407  DT.95180747  DT.75195032  DT.91738127  DT.86857445  DT.91738133 
    DT.75171452  DT.91986736  DT.100746310  DT.121208749 

    Selected AceView cDNA sequences (see all 64):

    AI807766 AI743923 AL548656 AF116547 BF223281 BC047466 BQ772641 AI460030 
    AW024777 AI566429 AI022542 AW845110 AF116548 BG315155 CB270447 BQ679860 
    BC052249 BQ774374 BC018042 BX392733 AA971798 AW450257 BG702444 CF455935 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CSAD (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18
    SP1:                                            -     -     -                 -           -     -                                                   
    SP2:                                                                          -           -     -                                                   
    SP3:                                                                          -           -     -           -                                       
    SP4:                                                                                      -     -                                                   
    SP5:                                                  -     -                 -                                                                     


    ECgene alternative splicing isoforms for CSAD

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CSAD expression in normal human tissues (normalized intensities)      CSAD embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CSAD Expression
    About this image


    CSAD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)
             Perivenous Hepatocytes Liver Lobule
     
     Adipose (Muscoskeletal System)
    CSAD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CSAD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.279815
        Custom PCR Arrays for CSAD
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat CSAD
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSAD

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CSAD gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Csad1 , 5 cysteine sulfinic acid decarboxylase1, 5 88.24(n)1
    89.66(a)1
      15 (57.35 cM)5
    2462771  NM_144942.41  NP_659191.11 
     1021769985 
    chicken
    (Gallus gallus)
    Aves CSAD1 cysteine sulfinic acid decarboxylase 72.88(n)
    72.88(a)
      426184  XM_423847.3  XP_423847.3 
    lizard
    (Anolis carolinensis)
    Reptilia CSAD6
    cysteine sulfinic acid decarboxylase
    66(a)
    1 ↔ 1
    2(70297982-70319798)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia csad1 cysteine sulfinic acid decarboxylase 65.76(n)
    67.99(a)
      100486477  XM_002936641.2  XP_002936687.2 
    zebrafish
    (Danio rerio)
    Actinopterygii 570446572   -- 73.41(n)    57044657 
    fruit fly
    (Drosophila melanogaster)
    Insecta b3 aspartate 1-decarboxylase 52(a)
    (best of 2)
      2 34D5   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CSAD gene
    DDC2  GAD12  GADL12  HDC2  GAD22  
    7 SIMAP similar genes for CSAD using alignment to 11 protein entries:     CSAD_HUMAN (see all proteins):
    pcap    GADL1    GAD65    GAD2    GAD1    DDC
    HDC

    CSAD for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CSAD (see all 598)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1119585981,2
    C--50605831(+) ATCTC-/AAAAAA 2 -- int11Minor allele frequency- A:0.00CSA 2
    rs2007271431,2
    C--50615138(+) ATCTC-/AAAAAA 2 -- int10--------
    rs2010984131,2
    --50615142(+) CAAAA-/AAAAAT
            
    AAAAA
    2 -- int10--------
    rs358769161,2
    C--53385017(+) GCTAG-/GATTAT 3 -- ds50011Minor allele frequency- G:0.00CSA 2
    rs1844100121,2
    --53385091(+) TTGATG/TGAATG 3 -- ds50010--------
    rs1435748031,2
    C--53385095(+) TTGAA-/TGTTT 
            
    TGTTT
    3 -- ds50010--------
    rs1905212421,2
    --53385110(+) TGCTTC/TGTTTT 3 -- ds50010--------
    rs1511665541,2
    --53385161(+) ATGGCA/GTGATC 3 -- ds50010--------
    rs1418014951,2
    --53385185(+) AGCTCC/TGCTTC 3 -- ds50010--------
    rs1470824491,2
    --53385203(+) CAAGCA/GATTCT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for CSAD (53551447 - 53575135 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CSAD:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661808CNV Deletion23128226
    nsv713CNV Insertion18451855
    nsv469404CNV Loss19166990
    nsv470294CNV Loss18288195
    nsv517066CNV Loss19592680
    nsv470295CNV Gain18288195
    nsv832417CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CSAD
    DNA2.0 Custom Variant and Variant Library Synthesis for CSAD

    (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.)
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    9 diseases for CSAD:    About MalaCards
    disuse amblyopia    stiff-person syndrome    amblyopia    pulmonary edema
    respiratory failure    hepatocellular carcinoma    obesity    prostate cancer
    prostatitis

    3 diseases from the University of Copenhagen DISEASES database for CSAD:
    Disuse amblyopia     Prostate cancer     Respiratory failure

    CSAD for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for CSAD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autoimmune diseases 27.2 3 15070923 (2)


    Export disorders for CSAD 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)
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    PubMed articles for CSAD gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with CSAD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2, 3 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Cloning of murine cysteine sulfinic acid decarboxylase and its mRNA expression in murine tissues. (PubMed id 11997111)1, 9 Park E....Schuller-Levis G. (Biochim. Biophys. Acta 2002)
    4. Analysis of antibody reactivity against cysteine sulfinic acid decarboxylase, a pyridoxal phosphate-dependent enzyme, in endocrine autoimmune disease. (PubMed id 15070923)7, 9 SkAPldberg F....KAompe O. (J. Clin. Endocrinol. Metab. 2004)
    5. Mechanism of cysteine-dependent inactivation of aspartate/glutamate/cysteine sulfinic acid I+-decarboxylases. (PubMed id 22718265)1 Liu P....Li J. (Amino Acids 2013)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    8. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    10. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (Nat Rev Drug Discov 2006)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 51380 HGNC: 18966 AceView: CSAD Ensembl:ENSG00000139631 euGenes: HUgn51380
    ECgene: CSAD Kegg: 51380 H-InvDB: CSAD

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CSAD Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CSAD Genetics and Cytogenetics in Oncology and Haematology

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

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



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