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

CA1 Gene

protein-coding   GIFtS: 70
GCID: GC08M086315

Carbonic Anhydrase I

  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)
About This Section

Aliases
Carbonic Anhydrase I1 2 3     CAB2 3
Carbonate Dehydratase I2 3     EC 4.2.1.13 8
Carbonic Anhydrase B2 3     Car12
CA-I2 3     Carbonic Anhydrase 12

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 Gene:
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)

GeneCards Summary for CA1 Gene: 
CA1 (carbonic anhydrase I) is a protein-coding gene. Diseases associated with CA1 include colonic neoplasm, and subacute thyroiditis, and among its related super-pathways are Nitrogen metabolism and Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes. GO annotations related to this gene include carbonate dehydratase activity and zinc ion binding. An important paralog of this gene is CA2.

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

Gene Wiki entry for CA1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008183.19  NC_018919.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CAH1_HUMAN, P00915 (See protein sequence)
Recommended Name: Carbonic anhydrase 1  
Size: 261 amino acids; 28870 Da
Cofactor: Zinc
Subcellular location: Cytoplasm
6/19 PDB 3D structures from and Proteopedia for CA1 (see all 19):
1AZM (3D)        1BZM (3D)        1CRM (3D)        1CZM (3D)        1HCB (3D)        1HUG (3D)    

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

Explore proteomics data for CA1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    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)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CA1
    OriGene Protein Over-expression Lysate for CA1
    OriGene MassSpec for 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
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for CA1
    Cloud-Clone Corp. 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: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals CA1 Antibodies
    Abcam antibodies for CA1
    Cloud-Clone Corp. Antibodies for CA1 
    ThermoFisher Antibodies for CA1
    LSBio Antibodies in human, mouse, rat for CA1 

    Assay Products for CA1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CA1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CA1 
    Cloud-Clone Corp. CLIAs for CA1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CA: Carbonic anhydrases

    4 InterPro protein domains:
     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 domain: IPB001148 Carbonic anhydrase

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


    CA1 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 - Custom generated mouse model solutions for CA1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CA1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CA1 

    miRNA
    Products:
        
    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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CA1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CA1
    Sirion Biotech Customized adenovirus for overexpression of CA1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for CA1 (see all 23)
    OriGene ORF clones in mouse, rat for CA1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CA1 (NM_005502)
    Sino Biological Human cDNA Clone for CA1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CA1
    Sirion Biotech Customized lentivirus for stable overexpression of CA1 
                         Customized lentivirus expression plasmids for stable overexpression of CA1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CA1
    Search LifeMap BioReagents cell lines 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, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CA1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Reversible Hydration of Carbon Dioxide
    Reversible Hydration of Carbon Dioxide0.67
    Nitrogen metabolism0.67
    2O2/CO2 exchange in erythrocytes
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes1.00
    O2/CO2 exchange in erythrocytes1.00
    Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes1.00
    3Metabolism
    Metabolism0.40
    4C-MYB transcription factor network
    C-MYB transcription factor network

    Pathways by source                                                                                                                                                                 See SuperPaths
    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, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CA1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CA1 (CAH1)

    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--

    10/24 DrugBank Compounds for CA1 (see all 24)    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 inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CA1:
    hsa-miR-431
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: CA1 (NM_005502)
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CA1

    Additional mRNA 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):

    BU663769 BU657937 AW135107 BU664965 BU657440 BU661087 BU661084 BU658271 
    BU658726 BU660102 BU661145 BU663817 BU665224 BU658140 BU660967 BU656862 
    BU657209 BU659740 BU663778 BU656637 BU658107 BU656486 AW848548 BU663720 

    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)      CA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTCAAATC
    CA1 Expression
    About this image


    CA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 6 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Bone marrow-derived hematopoietic stem cells
             Cord Blood CD133- Cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Umbilical Cord (Extraembryonic Tissues)
             Cord Blood CD133- Cells   
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Spleen (Hematopoietic System)
             spleen ; cells in red pulp   

    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 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Car11 , 5 carbonic anhydrase 11, 5 81.86(n)1
    78.16(a)1
      3 (3.18 cM)5
    123461  NM_001083957.11  NP_001077426.11 
     147662165 
    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
    61(a)
    60(a)
    many ↔ many
    many ↔ many
    24(33852211-33870040)
    2(29192215-29200240)
    fruit fly
    (Drosophila melanogaster)
    Insecta CAH13 carbonate dehydratase 47(a)   34D4   --
    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  CA32  CA62  CA112  CA5B2  CA5A2  
    CA142  CA82  CA42  CA92  CA132  CA102  
    15 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    CA11    CA14
    CA6    PTPRZ1    PTPRG

    CA1 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) 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

    10/995 SNPs in CA1 are shown (see all 995)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219095771,2
    Cpathogenic186337395(-) TGAAGC/GGCAGA 10 R G mis10--------
    rs773428771,2
    C,Funtested186347102(+) TGGAAG/AGAATG 10 /S syn13Minor allele frequency- A:0.02WA NA EU 5991
    VAR_0013794
    ----see VAR_0013792 G R mis40--------
    VAR_0013784
    ----see VAR_0013782 H R mis40--------
    rs106727561,2
    C--81741443(+) acaaa-/AAAT  
            
    aaATA
    5 -- int10--------
    rs339897641,2
    C--81741445(+) CAAAA-/AAAT  
            
    AATAA
    5 -- int10--------
    rs353816411,2
    C--81747547(+) AAAAAA/-TTAAT 5 -- int11Minor allele frequency- -:0.00NA 2
    rs1423463691,2
    C--81747879(+) TATTT-/AAAAGC 5 -- int10--------
    rs3746002751,2
    C--81750482(+) AAAAG-/TATA  
            
    TATAT
    4 -- int10--------
    rs1499015131,2
    C--81771377(+) GCTCT-/CCCTCT 4 -- int10--------

    HapMap Linkage Disequilibrium report for CA1 (86239837 - 86291243 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2658426CNV Deletion23128226
    nsv831377CNV Gain17160897


    Human Gene Mutation Database (HGMD): CA1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 114800    OMIM disorders: --

    20/35 diseases for CA1 (see all 35):    About MalaCards
    colonic neoplasm    subacute thyroiditis    transient global amnesia    labyrinthitis
    thyrotoxicosis    brain ischemia    familial adenomatous polyposis    endocarditis
    temporal lobe epilepsy    hyperthyroidism    ankylosing spondylitis    spondylitis
    graves' disease    sjogren's syndrome    diabetic retinopathy    vascular disease
    ischemia    ulcerative colitis    laryngitis    gastric cancer

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

    CA1 for disorders           About GeneDecksing

    10/12 Novoseek inferred 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)

    Genetic Association Database (GAD): CA1
    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 223):
    (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. Diabetic retinopathy is not associated with carbonic anhydrase gene polymorphisms. (PubMed id 19536309)1, 4 Abhary S....Craig J.E. (2009)
    7. 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)
    8. 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)
    9. Physical mapping of the human carbonic anhydrase gene cluster on chromosome 8. (PubMed id 1916821)1, 3 Lowe N....Butterworth P.H. (1991)
    10. Human carbonic anhydrase I cDNA. (PubMed id 3104879)1, 2 Barlow J.H.... Butterworth P.H.W. (1987)

    (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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    About This Section

     
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