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

Gene ID: 79886, updated on 17-Jun-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, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 14.1), adrenal (RPKM 11.5) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (26840685..26892802, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (26851324..26903417, complement)
105.20220307 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 (44) 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)

Genotypes

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 involved in apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 

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_2023_10

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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