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    CAAP1 caspase activity and apoptosis inhibitor 1 [ Homo sapiens (human) ]

    Gene ID: 79886, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CAAP1provided by HGNC
    Official Full Name
    caspase activity and apoptosis inhibitor 1provided by HGNC
    Primary source
    HGNC:HGNC:25834
    See related
    Ensembl:ENSG00000120159 AllianceGenome:HGNC:25834
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAAP; C9orf82
    Summary
    Involved in negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 14.1), adrenal (RPKM 11.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CAAP1 in Genome Data Viewer
    Location:
    9p21.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (26840685..26892802, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (26851324..26903417, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (26840683..26892800, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376000 Neighboring gene NANOG hESC enhancer GRCh37_chr9:26728197-26728698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28247 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:26742773-26743338 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:26746698-26747897 Neighboring gene NANOG hESC enhancer GRCh37_chr9:26753934-26754449 Neighboring gene uncharacterized LOC107987028 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:26892199-26892778 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:26892779-26893358 Neighboring gene RNA, 7SL, cytoplasmic 100, pseudogene Neighboring gene H3 histone pseudogene 31 Neighboring gene MPRA-validated peak7213 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:26936699-26937379 Neighboring gene phospholipase A2 activating protein Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:26946315-26946990 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:26946991-26947664 Neighboring gene intraflagellar transport 74

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Proteomic analysis reveals CAAP1 negatively correlates with platinum resistance in ovarian cancer. Ni M, et al. J Proteomics, 2023 Apr 15. PMID 36870674
    2. LncRNA LncOGD-1006 alleviates OGD-induced ischemic brain injury regulating apoptosis through miR-184-5p/CAAP1 axis. Chen JY, et al. Eur Rev Med Pharmacol Sci, 2020 Dec. PMID 33336752
    3. MKL1/miR-5100/CAAP1 loop regulates autophagy and apoptosis in gastric cancer cells. Zhang HM, et al. Neoplasia, 2020 May. PMID 32315812, Free PMC Article
    4. Identification of a conserved anti-apoptotic protein that modulates the mitochondrial apoptosis pathway. Zhang Y, et al. PLoS One, 2011. PMID 21980415, Free PMC Article
    5. The E3 ubiquitin ligase UBR5 interacts with the H/ACA ribonucleoprotein complex and regulates ribosomal RNA biogenesis in embryonic stem cells. Saez I, et al. FEBS Lett, 2020 Jan. PMID 31365120

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Proteomic analysis reveals CAAP1 negatively correlates with platinum resistance in ovarian cancer.
      Title: Proteomic analysis reveals CAAP1 negatively correlates with platinum resistance in ovarian cancer.
    2. LncRNA LncOGD-1006 alleviates OGD-induced ischemic brain injury regulating apoptosis through miR-184-5p/CAAP1 axis.
      Title: LncRNA LncOGD-1006 alleviates OGD-induced ischemic brain injury regulating apoptosis through miR-184-5p/CAAP1 axis.
    3. MKL1/miR-5100/CAAP1 loop regulates autophagy and apoptosis in gastric cancer cells.
      Title: MKL1/miR-5100/CAAP1 loop regulates autophagy and apoptosis in gastric cancer cells.
    4. The data suggest that C9orf82 functions as an anti-apoptotic protein that modulates a caspase-10 dependent mitochondrial caspase-3/9 feedback amplification loop. It is designated as Conserved Anti-Apoptotic Protein (CAAP).
      Title: Identification of a conserved anti-apoptotic protein that modulates the mitochondrial apoptosis pathway.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13657

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cysteine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    caspase activity and apoptosis inhibitor 1
    Names
    conserved anti-apoptotic protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001167575.2 → NP_001161047.1  caspase activity and apoptosis inhibitor 1 isoform 2

      See identical proteins and their annotated locations for NP_001161047.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction at the 3' end of the first exon compared to variant 1, that causes a frameshift. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AF131768, BC071953, BP228742, BP374752
      Consensus CDS
      CCDS55299.1
      UniProtKB/TrEMBL
      B4DUP7
      Related
      ENSP00000487373.1, ENST00000625311.1
      Conserved Domains (1) summary
      pfam15335
      Location:1 → 50
      CAAP1; Caspase activity and apoptosis inhibitor 1

    2. NM_024828.4 → NP_079104.3  caspase activity and apoptosis inhibitor 1 isoform 1

      See identical proteins and their annotated locations for NP_079104.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF131768, BC071953, BP228742
      Consensus CDS
      CCDS6516.1
      UniProtKB/Swiss-Prot
      B4DWT4, D3DRK4, Q5VY32, Q6IPE6, Q96C59, Q9H8G2
      Related
      ENSP00000369431.3, ENST00000333916.8
      Conserved Domains (1) summary
      pfam15335
      Location:134 → 195
      CAAP1; Caspase activity and apoptosis inhibitor 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      26840685..26892802 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423896.1 → XP_047279852.1  caspase activity and apoptosis inhibitor 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3ISJ3
      Related
      ENSP00000497400.1, ENST00000650615.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      26851324..26903417 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363861.1 → XP_054219836.1  caspase activity and apoptosis inhibitor 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3ISJ3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H8G2.2 GenPept UniProtKB/Swiss-Prot:Q9H8G2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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