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CAAP1 Gene

protein-coding   GIFtS: 37
GCID: GC09M026840

Caspase Activity And Apoptosis Inhibitor 1

(Previous name: chromosome 9 open reading frame 82)
(Previous symbol: C9orf82)
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(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
Caspase Activity And Apoptosis Inhibitor 11 2
C9orf821 2 3
Conserved Anti-Apoptotic Protein1 2 3
CAAP2 3
Chromosome 9 Open Reading Frame 821

External Ids:    HGNC: 258341   Entrez Gene: 798862   Ensembl: ENSG000001201597   UniProtKB: Q9H8G23   

Export aliases for CAAP1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CAAP1 Gene:
CAAP1 (caspase activity and apoptosis inhibitor 1) is a protein-coding gene.

UniProtKB/Swiss-Prot: CAAP1_HUMAN, Q9H8G2
Function: Anti-apoptotic protein that modulates a caspase-10 dependent mitochondrial caspase-3/9 feedback
amplification loop

Gene Wiki entry for CAAP1 (C9orf82) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008413.19  NC_018920.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CAAP1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CAAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CAAP1


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

Entrez Gene cytogenetic band: 9p21.2   Ensembl cytogenetic band:  9p21.2   HGNC cytogenetic band: 9p21.2

CAAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAAP1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M026840:  view genomic region     (about GC identifiers)

Start:
26,840,683 bp from pter      End:
26,892,826 bp from pter
Size:
52,144 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CAAP1_HUMAN, Q9H8G2 (See protein sequence)
Recommended Name: Caspase activity and apoptosis inhibitor 1  
Size: 361 amino acids; 38368 Da
Secondary accessions: B4DWT4 D3DRK4 Q5VY32 Q6IPE6 Q96C59
Alternative splicing: 2 isoforms:  Q9H8G2-1   Q9H8G2-2   

Explore the universe of human proteins at neXtProt for CAAP1: NX_Q9H8G2

Explore proteomics data for CAAP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CAAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001161047.1  NP_079104.3  

    ENSEMBL proteins: 
     ENSP00000369431   ENSP00000427938   ENSP00000427916   ENSP00000444885  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q9H8G2


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAAP1_HUMAN, Q9H8G2
    Function: Anti-apoptotic protein that modulates a caspase-10 dependent mitochondrial caspase-3/9 feedback
    amplification loop

    Animal Models:

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CAAP1
    Interactions:

        Search GeneGlobe Interaction Network for CAAP1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    4 Interacting proteins for CAAP1 (Q9H8G23 ENSP000003694314) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KAT7O952513I2D: score=4 
    PTNP212463I2D: score=4 
    XRCC4Q134263I2D: score=4 
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--

    Find genes that share ontologies with CAAP1           About GenesLikeMe



    (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
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    Browse Tocris compounds for CAAP1



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CAAP1 gene (2 alternative transcripts): 
    NM_001167575.1  NM_024828.3  

    Unigene Cluster for CAAP1:

    Caspase activity and apoptosis inhibitor 1
    Hs.178357  [show with all ESTs]
    Unigene Representative Sequence: NM_001167575
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000333916(uc003zqb.3 uc003zqc.3) ENST00000520187 ENST00000483493
    ENST00000495958 ENST00000517946 ENST00000535437
    miRNA
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    Additional mRNA sequence: 

    AF131768.1 AK023719.1 AK300739.1 AK301673.1 BC014658.1 BC071953.1 

    8 DOTS entries:

    DT.453673  DT.100813837  DT.92426133  DT.410212  DT.91754085  DT.92426132  DT.92426137  DT.444732 

    Selected AceView cDNA sequences (see all 120):

    AW268700 AI985187 BE219130 AA749275 Z43889 AI401108 BU688153 AW516206 
    F05583 BC071953 N99668 AA858212 BP374752 AA374096 AI199397 F06891 
    T34448 AW592769 CB240774 N43996 AI669074 BM908902 AI686321 CR599142 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CAAP1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b
    SP1:        -                                             
    SP2:                                                      
    SP3:                    -                                 


    ECgene alternative splicing isoforms for CAAP1

    (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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    CAAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CAAP1 Expression
    About this image

    CAAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CAAP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.178357

    UniProtKB/Swiss-Prot: CAAP1_HUMAN, Q9H8G2
    Tissue specificity: Ubiquitous

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAAP1

    (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 chordates.

    Orthologs for CAAP1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Caap11 , 5 RIKEN cDNA 5830433M19 gene5
    caspase activity and apoptosis inhibitor 11
    82.35(n)1
    80.29(a)1
      4 (43.32 cM)5
    677701  NM_026368.21  NP_080644.21 
     945000815 
    chicken
    (Gallus gallus)
    Aves CZH9ORF821 chromosome Z open reading frame, human C9orf82 75.49(n)
    75.1(a)
      427364  XM_424940.4  XP_424940.4 
    lizard
    (Anolis carolinensis)
    Reptilia CAAP16
    caspase activity and apoptosis inhibitor 1
    70(a)
    1 ↔ 1
    2(59016411-59051436)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.67532 Xenopus laevis transcribed sequence with weak similarity more 76.18(n)    BU910475.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003298471 caspase activity and apoptosis inhibitor 1-like 62.09(n)
    56.19(a)
      100329847  XM_002666948.2  XP_002666994.1 


    ENSEMBL Gene Tree for CAAP1 (if available)
    TreeFam Gene Tree for CAAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 CAAP1 (see all 1255)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1447877621,2
    --26840184(+) CGTAGA/GTGGGA 2 -- int10--------
    rs1863328311,2
    --26840266(+) TTAGCC/TAGGAT 2 -- int10--------
    rs1896274961,2
    C--26840286(+) CCTGAA/CCTCAT 2 -- int10--------
    rs1467387711,2
    --26840305(+) CGCCTC/TGGCCT 2 -- int10--------
    rs1997001101,2
    C--26840313(+) CCTTC-/AAGTGCT 2 -- int10--------
    rs1823530261,2
    --26840366(+) AAGATG/TTGAAC 2 -- int10--------
    rs169108341,2
    C,F,H--26840484(+) GCAAAT/CATTCC 2 -- int110Minor allele frequency- C:0.09NA NS EA CSA WA 799
    rs1403392191,2
    --26840515(+) TTTCAA/GAAAGC 2 -- int10--------
    rs1457214831,2
    --26840524(+) GCTCTC/TAAGTC 2 -- int10--------
    rs1481091101,2
    --26840557(+) AAAAAC/TTTGAT 2 -- int10--------

    HapMap Linkage Disequilibrium report for CAAP1 (26840683 - 26892826 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CAAP1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CAAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for CAAP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    (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 CAAP1 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with CAAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a conserved anti-apoptotic protein that modulates the mitochondrial apoptosis pathway. (PubMed id 21980415)1, 2, 3 Zhang Y.... Anderson M.W. (PLoS ONE 2011)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    4. 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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    8. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 79886 HGNC: 25834 AceView: C9orf82 Ensembl:ENSG00000120159 euGenes: HUgn79886
    ECgene: CAAP1 H-InvDB: CAAP1

    (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 CAAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CAAP1 gene:
    Search GeneIP for patents involving CAAP1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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