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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CA1 Gene

protein-coding   GIFtS: 69
GCID: GC08M086315

carbonic anhydrase I

 Explore 32 diseases affiliated with
CA1 via our new
 Human Malady Compendium 
Biological research products
for CA1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Carbonic Anhydrase I1 2 3     CAB2 3
Car11 2     EC 4.2.1.13 8
Carbonate Dehydratase I2 3     Carbonic Anhydrase 12
Carbonic Anhydrase B2 3     Carbonic Dehydratase2
CA-I2 3     

External Ids:    HGNC: 13681   Entrez Gene: 7592   Ensembl: ENSG000001337427   OMIM: 1148005   UniProtKB: P009153   

Export aliases for CA1 gene to outside databases

Previous GC identifers: GC08M085064 GC08M086197 GC08M086020 GC08M086427 GC08M081734


(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 CA1:
Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon
dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base
balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show
extensive diversity in tissue distribution and in their subcellular localization. CA1 is closely linked to CA2 and CA3
genes on chromosome 8, and it encodes a cytosolic protein which is found at the highest level in erythrocytes.
Variants of this gene have been described in some populations. Multiple alternatively spliced variants, encoding the
same protein, have been identified. Transcript variants of CA1 utilizing alternative polyA_sites have been described
in literature. (provided by RefSeq, Sep 2009)

UniProtKB/Swiss-Prot: CAH1_HUMAN, P00915
Function: Reversible hydration of carbon dioxide. Can hydrates cyanamide to urea

Gene Wiki entry for CA1


(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_000008.10  NC_018919.1  NT_008183.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CA1 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B2   oct-B3   MyoD   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CA1


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

Entrez Gene cytogenetic band: 8q21.2   Ensembl cytogenetic band:  8q21.2   HGNC cytogenetic band: 8q21.2

CA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CA1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M086315:  view genomic region     (about GC identifiers)

Start:
86,239,837 bp from pter      End:
86,291,243 bp from pter
Size:
51,407 bases      Orientation:
minus strand

(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: CAH1_HUMAN, P00915 (See protein sequence)
Recommended Name: Carbonic anhydrase 1  
Size: 261 amino acids; 28870 Da
Cofactor: Zinc
Subcellular location: Cytoplasm
6/17 PDB 3D structures from and Proteopedia for CA1 (see all 17):
1AZM (3D)        1BZM (3D)        1CRM (3D)        1CZM (3D)        1HCB (3D)        1HUG (3D)    

Explore the universe of human proteins at neXtProt for CA1: NX_P00915

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P00915

  • 4/15 DME Specific Peptides for CA1 (P00915) (see all 15)
     SVLKGGP  QFHFHWG  TYPGSLT  DNRSVLK 

    CA1 Protein expression data from MOPED and PaxDb:    About this image 
    CA1 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001122301.1  NP_001122302.1  NP_001122303.1  NP_001158302.1  NP_001729.1  

    ENSEMBL proteins: 
     ENSP00000430656   ENSP00000429798   ENSP00000427773   ENSP00000429300   ENSP00000428923  
     ENSP00000430861   ENSP00000430543   ENSP00000430571   ENSP00000429843   ENSP00000430710  
     ENSP00000430471   ENSP00000427852   ENSP00000430737   ENSP00000430372   ENSP00000430975  
     ENSP00000429688   ENSP00000256119   ENSP00000392338   ENSP00000443517   ENSP00000401551  
    Reactome Protein details: P00915
    Human Recombinant Protein Products for CA1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CA1 (Carbonic Anhydrase I/CA1)
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    OriGene Purified Protein: CA1
    OriGene Protein Over-expression Lysate (see all 5): CA1
    OriGene Custom Protein Services for CA1 
    GenScript Custom Purified and Recombinant Proteins Services for CA1
    Novus Biologicals CA1 Proteins
    Novus Biologicals CA1 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for CA1
    Uscn Proteins for CA1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0005829cytosol TAS--

    CA1 for ontologies           About GeneDecksing



    CA1 Antibody Products: 
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    Novus Biologicals CA1 Antibodies
    Abcam antibodies for CA1 
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    ThermoFisher Antibodies for CA1

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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CA1


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

    CA1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR018442 Carbonic_anhydrase_CA1
     IPR001148 Carbonic_anhydrase_a
     IPR018338 Carbonic_anhydrase_a-class_CS
     IPR023561 Carbonic_anhydrase_a-class

    Graphical View of Domain Structure for InterPro Entry P00915

    ProtoNet protein and cluster: P00915

    1 Blocks protein family: IPB001148 Carbonic anhydrase

    UniProtKB/Swiss-Prot: CAH1_HUMAN, P00915
    Similarity: Belongs to the alpha-carbonic anhydrase family


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAH1_HUMAN, P00915
    Function: Reversible hydration of carbon dioxide. Can hydrates cyanamide to urea
    Catalytic activity: H(2)CO(3) = CO(2) + H(2)O
    Enzyme regulation: Activated by histamine, imidazole, L-adrenaline, L- and D-histidine, and L- and D-phenylalanine.
    Inhibited by coumarins, sulfonamide derivatives such as acetazolamide, benzenesulfonamide and derivatives
    (4-carboxyethylbenzene-sulfonamide, 4-carboxyethylbenzene-sulfonamide ethyl ester,
    4-(acetyl-2-aminoethyl)benzene-sulfonamide, 4-aminoethylbenzene-sulfonamide), and 'prong inhibitors' BR15, BR17, BR22
    and BR30. Activated by a short exposition to Foscarnet (phosphonoformate trisodium salt), but inhibited by a long one.
    Esterase activity weakly reduced by cyanamide
    Biophysicochemical properties: Kinetic parameters: KM=4.0 mM for CO(2); KM=15 mM for 4-nitrophenyl acetate;

         Genatlas biochemistry entry for CA1:
    carbonic anhydrase I,cytosolic,erythrocyte

         Enzyme Number (IUBMB): EC 4.2.1.11 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004089carbonate dehydratase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    CA1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CA1:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CA1 

    miRNA
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    OriGene 3'-UTR Clone (see all 5): CA1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CA1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CA1:
    hsa-miR-431
    SwitchGear 3'UTR luciferase reporter plasmidCA1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CA1 (see all 7)
    OriGene shRNA RFP: CA1
    OriGene siRNA: CA1
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    Sirion Biotech Custom design and validation of potent shRNA sequences against CA1 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CA1 
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CA1 

    Cell Line
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    Sirion Biotech Customized inducible overexpressing cell line services for CA1

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA1


    (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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1O2/CO2 exchange in erythrocytes
    O2/CO2 exchange in erythrocytes1.00
    Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes1.00
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes1.00
    2Reversible Hydration of Carbon Dioxide
    Reversible Hydration of Carbon Dioxide1.00
    Nitrogen metabolism0.52
    3C-MYB transcription factor network
    C-MYB transcription factor network1.00
    4Metabolism
    Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for CA1 
        C-MYB transcription factor network

    5        Reactome Pathways for CA1
        Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes
    Reversible Hydration of Carbon Dioxide
    Metabolism
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes
    O2/CO2 exchange in erythrocytes


    1         Kegg Pathway  (Kegg details for CA1):
        Nitrogen metabolism


    CA1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CA1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for CA1 (P009152, 3 ENSP000002561194) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK6Q166592, 3MINT-8260812 I2D: score=2 
    GATA1ENSP000003658584STRING: ENSP00000365858
    MYBENSP000003399924STRING: ENSP00000339992
    HSD17B7ENSP000002545214STRING: ENSP00000254521
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006730one-carbon metabolic process IEA--
    GO:0015701bicarbonate transport TAS--
    GO:0044281small molecule metabolic process TAS--

    CA1 for ontologies           About GeneDecksing



    (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

    CA1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CA1

    7 HMDB Compounds for CA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmlodipineAMVAZ (see all 7)88150-42-9--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Carbonic acidacid of air (see all 24)463-79-6--
    Hydrochlorothiazide3,4-Dihydrochlorothiazide (see all 89)58-93-5--
    VerapamilAkilen (see all 107)52-53-9--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    ZincZinc (see all 2)7440-66-6--

    10/23 DrugBank Compounds for CA1 (see all 23)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ZonisamideZonisamida [Spanish] (see all 2)68291-97-4targetinhibitor18537527 17762320 15837316 18162396 18782051 17582922 8494570 18343915
    AcetazolamideAcetamidothiadiazolesulfonamide (see all 7)59-66-5targetinhibitor8667211 18336310 10651143 12956733 10713865 11430635
    Ethoxzolamide6-Ethoxy-1,3-benzothiazole-2-sulfonamide (see all 4)452-35-7targetinhibitor10649985 19520577 7929150 12956733 10995826 6816217
    CyclothiazideCiclotiazida [INN-Spanish] (see all 3)2259-96-3targetinhibitor8882618 8003661 8793745 9685234 9929558
    Diazoxide-- 364-98-7targetinhibitor15306243 9439778 8298083 7585327 7681475
    Dichlorphenamide4,5-Dicholorobenzene-1,3-disulfonamide (see all 7)120-97-8targetinhibitor19648295 19019313 9336012 17228881 14684332
    Methazolamide-- 554-57-4targetinhibitor9336012 10649985 15110853 14684332 10533697
    AmlodipineAmlodipine Benzenesulfonate (see all 6)88150-42-9targetinhibitor11101200 11392054 11061585
    Dorzolamide-- 120279-96-1targetinhibitor8875343 8070313 9029437
    HydrochlorothiazideDihydrochlorothiazid (see all 10)58-93-5targetinhibitor9546276 19119014 10713865

    10/23 Novoseek chemical compound relationships for CA1 gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    benzenesulfonamide 86 1 15736932 (1)
    p-nitrophenyl acetate 80.3 1 16999776 (1)
    sulfonamide 79.6 7 12164389 (1), 15499997 (1), 15751944 (1), 18475761 (1) (see all 7)
    dansylamide 78.4 3 15751944 (2)
    sulfamide 73.3 2 16999776 (1), 17627576 (1)
    dichlorphenamide 70.4 1 16634001 (1)
    acetazolamide 69 7 8667211 (2), 10768298 (1), 8494570 (1), 11430635 (1) (see all 5)
    methazolamide 66.2 1 16634001 (1)
    metaproterenol 56 1 11262584 (1)
    zinc 53.3 29 8804152 (2), 12009884 (1), 2125094 (1), 1943730 (1) (see all 11)

    Search CenterWatch for drugs/clinical trials and news about CA1 / CAH1 

    (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, Sirion Biotech, 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 CA1 gene (5 alternative transcripts): 
    NM_001128829.2  NM_001128830.2  NM_001128831.2  NM_001164830.1  NM_001738.3  

    Unigene Cluster for CA1:

    Carbonic anhydrase I
    Hs.23118  [show with all ESTs]
    Unigene Representative Sequence: M33987
    18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000523953(uc003ydh.3 uc003ydi.3) ENST00000523022 ENST00000522389
    ENST00000521679 ENST00000524324 ENST00000517618 ENST00000519991 ENST00000523712
    ENST00000520663 ENST00000517590 ENST00000518233 ENST00000517429 ENST00000521846
    ENST00000522579 ENST00000518341 ENST00000522814 ENST00000522662 ENST00000523858


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    Inhib. RNA
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    Additional cDNA sequence: 

    BC027890.1 M33987.1 X05014.1 

    24/25 DOTS entries (see all 25):

    DT.121482872  DT.100031767  DT.100031745  DT.121482841  DT.100031757  DT.100031744  DT.121482834  DT.100794821 
    DT.100031763  DT.121482894  DT.100031768  DT.100794820  DT.100031746  DT.100794823  DT.100031742  DT.100031749 
    DT.100031758  DT.100031760  DT.100031761  DT.100031762  DT.100031766  DT.100794822  DT.95361469  DT.99969459 

    24/1202 AceView cDNA sequences (see all 1202):

    BU661378 BU661646 BU659856 AW848548 BU656564 BU663781 BU659445 BU660960 
    BU662290 BU657032 BU657438 BU657677 BU661688 BU660938 BU665399 BU661909 
    BU662069 BU657453 BU656616 BU656892 BU656890 BU656053 BU664791 BU664202 

    GeneLoc Exon Structure

    5/20 Alternative Splicing Database (ASD) splice patterns (SP) for CA1 (see all 20)    About this scheme

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

    ExUns: 16b · 16c · 16d · 16e
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for CA1

    (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

    CA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTTCAAATC
    CA1 Expression
    About this image
    See CA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CA1

    SOURCE GeneReport for Unigene cluster: Hs.23118
        SABiosciences Custom PCR Arrays for CA1

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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 CA1 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.156302 Transcribed sequence with weak similarity to protein more 70.5(n)    BX735639.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ca26
    cahz6
    carbonic anhydrase
    62(a)
    61(a)
    many ↔ many
    many ↔ many
    24(33852211-33870040)
    2(29192215-29200240)
    fruit fly
    (Drosophila melanogaster)
    Insecta CAH13 carbonate dehydratase 47(a)   34D4   --
    worm
    (Caenorhabditis elegans)
    Secernentea cah-33 carbonic anhydrase 33(a)   X(16518334-16519911)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACA11 carbonic anhydrase 46.88(n)
    36.53(a)
      824438  NM_115132.2  NP_566971.2 
    rice
    (Oryza sativa)
    Liliopsida Os02g05333001 hypothetical protein 45.19(n)
    36.89(a)
      4329556  NM_001053565.2  NP_001047030.1 


    ENSEMBL Gene Tree for CA1 (if available)
    TreeFam Gene Tree for CA1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CA1 gene
    CA22  CA122  CA72  CA62  CA32  CA112  CA5B2  CA142  
    CA5A2  CA82  CA42  CA92  CA132  CA102  
    14 SIMAP similar genes for CA1 using alignment to 14 protein entries:     CAH1_HUMAN (see all proteins):
    CA13    CA3    CA2    CA7    CA5B    CA5A
    CA10    CA8    DKFZp686I20267    CA12    CA6    CA14
    PTPRZ1    PTPRG

    CA1 for paralogs           About GeneDecksing



    (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

    10/813 NCBI SNPs in CA1 are shown (see all 813    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs744278861,2
    F--81735179(+) CTAACG/ACACTG 5 -- int13Minor allele frequency- A:0.12CSA WA 122
    rs1122098211,2
    F--81735215(+) TGCAGG/TAATAT 5 -- int11Minor allele frequency- T:0.50CSA 4
    rs625124971,2
    C--81735265(+) CATTTC/ATTTGA 5 -- int13Minor allele frequency- A:0.22WA NA 124
    rs119870041,2
    C,H--81735320(+) tcaatT/Aaaata 5 -- int12Minor allele frequency- A:0.05NA WA 120
    rs78274741,2
    C,F,H--81735886(+) AAGGAG/CGAAAG 5 -- int1 trp37Minor allele frequency- C:0.05NS EA WA 1008
    rs736918171,2
    C--81735985(+) ATTAAC/TATTTT 5 -- int11Minor allele frequency- T:0.50WA 2
    rs70019821,2
    C,F,A,H--81736504(+) AAGACG/ATCTTC 5 -- int114Minor allele frequency- A:0.06NS EA NA CSA WA 1316
    rs751443111,2
    --81736912(+) AGGACC/TCTTAT 5 -- int12Minor allele frequency- T:0.10CSA WA 120
    rs560009931,2
    C--81737761(+) CTTTTC/TTTCTC 5 -- int11Minor allele frequency- T:0.50WA 2
    rs117744221,2
    C,H--81738786(+) AAGTAG/ACACCT 5 -- int14Minor allele frequency- A:0.00NS EA 420

    HapMap Linkage Disequilibrium report for CA1 (86239837 - 86291243 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CA1
         1 CNV: 4601
    Human Gene Mutation Database (HGMD): CA1

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    (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

    CA1 for disorders           About GeneDecksing

    OMIM gene information: 114800    OMIM disorders: --

    20/32 diseases for CA1 (see all 32):    About MalaCards
    transient global amnesia    familial adenomatous polyposis    temporal lobe epilepsy    ankylosing spondylitis
    labyrinthitis    subacute thyroiditis    thyrotoxicosis    polyposis
    ulcerative colitis    spondylitis    diabetic retinopathy    colonic neoplasm
    brain ischemia    sjogren's syndrome    graves' disease    gastric cancer
    endocarditis    colorectal cancer    kidney disease    ischemia

    2 diseases from the University of Copenhagen DISEASES database for CA1:
    Amnestic disorder     Vascular disease

    10/12 Novoseek disease relationships for CA1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperthyroidism 36.5 6 1899425 (1), 1943730 (1), 9669291 (1), 8612521 (1) (see all 5)
    erythroleukemia 32.6 2 1719810 (1)
    thyroid diseases 21.4 3 8804152 (1), 17657991 (1)
    chronic pancreatitis 17.3 4 8613065 (2), 12806141 (1), 10824693 (1)
    familial adenomatous polyposis 9.64 1 8359594 (1)
    tumors 0.621 6 12927591 (2), 15908201 (1), 17187689 (1)
    gastric cancer 0 1 16185290 (1)
    adenocarcinoma 0 1 1690978 (1)
    metastasis 0 4 11020863 (2), 12927591 (1)
    adenoma 0 3 1690978 (1), 18708730 (1), 8359594 (1)

    Human Genome Epidemiology (HuGE) Navigator: CA1 (6 documents)

    Export disorders for CA1 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 CA1 gene, integrated from 9 sources (see all 220):
    (articles sorted by number of sources associating them with CA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of a zinc-activated variant of human carbonic anhydrase I, CA I Michigan 1: evidence for a second zinc binding site involving arginine coordination. (PubMed id 12009884)1, 2, 9 Ferraroni M.... Scozzafava A. (2002)
    2. Structure and methylation patterns of the gene encoding human carbonic anhydrase I. (PubMed id 2121614)1, 2, 9 Lowe N....Butterworth P.H.W. (1990)
    3. Phosph(on)ate as a zinc-binding group in metalloenzyme inhibitors: X- ray crystal structure of the antiviral drug foscarnet complexed to human carbonic anhydrase I. (PubMed id 17314045)1, 2, 9 Temperini C....Supuran C.T. (2007)
    4. Vasoconstrictive drugs increase carbonic anhydrase I in vascular smooth muscle while vasodilating drugs reduce the activity of this isozyme by a direct mechanism of action. (PubMed id 11392054)1, 7, 9 Puscas I....Hecht A. (2001)
    5. Marked zinc activation of ester hydrolysis by a mutation, 67-His (CAT) to Arg (CGT), in the active site of human carbonic anhydrase I. (PubMed id 7866410)1, 2, 9 Chegwidden W.R.... Tashian R.E. (1994)
    6. Carbonic anhydrase activators: the first X-ray crystallographic study of an adduct of isoform I. (PubMed id 16870440)1, 2 Temperini C.... Supuran C.T. (2006)
    7. 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)
    8. Physical mapping of the human carbonic anhydrase gene cluster on chromosome 8. (PubMed id 1916821)1, 3 Lowe N....Butterworth P.H. (1991)
    9. Human carbonic anhydrase I cDNA. (PubMed id 3104879)1, 2 Barlow J.H.... Butterworth P.H.W. (1987)
    10. Population genetic studies of the Philippine Negritos. III. Identification of the carbonic anhydrase-1 variant with CA1 Guam. (PubMed id 6781336)1, 2 Omoto K.... Pagaran I.G. (1981)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 759 HGNC: 1368 AceView: CA1 Ensembl:ENSG00000133742 euGenes: HUgn759
    ECgene: CA1 Kegg: 759 H-InvDB: CA1

    (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 CA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CA1 gene:
    Search GeneIP for patents involving CA1

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



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