Gene Gene information from NCBI Gene database.
Entrez ID 79886
Gene name Caspase activity and apoptosis inhibitor 1
Gene symbol CAAP1
Synonyms (NCBI Gene)
C9orf82CAAP
Chromosome 9
Chromosome location 9p21.2
miRNA miRNA information provided by mirtarbase database.
3
miRTarBase ID miRNA Experiments Reference
MIRT027012 hsa-miR-103a-3p Sequencing 20371350
MIRT028987 hsa-miR-26b-5p Microarray 19088304
MIRT031513 hsa-miR-16-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0006915 Process Apoptotic process IEA
GO:0042981 Process Regulation of apoptotic process IEA
GO:0043066 Process Negative regulation of apoptotic process IMP 21980415
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H8G2
Protein name Caspase activity and apoptosis inhibitor 1 (Conserved anti-apoptotic protein) (CAAP)
Protein function Anti-apoptotic protein that modulates a caspase-10 dependent mitochondrial caspase-3/9 feedback amplification loop.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15335 CAAP1 133 195 Caspase activity and apoptosis inhibitor 1 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:21980415}.
Sequence
MTGKKSSREKRRKRSSQEAAAALAAPDIVPALASGSSGSTSGCGSAGGCGSVSCCGNANF
SGSVTGGGSGGSCWGGSSVERSERRKRRSTDSSSVSGSLQQETKYILPTLEKELFLAEHS
DLEEGGLDLTVSLKPVSFYISDKKEMLQQCFCIIGEKKLQKMLPDVLKNCSIEEIKKLCQ
EQLELLSEKKILKIL
EGDNGMDSDMEEEADDGSKMGSDLVSQQDICIDSASSVRENKQPE
GLELKQGKGEDSDVLSINADAYDSDIEGPCNEEAAAPEAPENTVQSEAGQIDDLEKDIEK
SVNEILGLAESSPNEPKAATLAVPPPEDVQPSAQQLELLELEMRARAIKALMKAGDIKKP
A
Sequence length 361
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL SMALL VESSEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GALLBLADDER NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atrial Fibrillation Atrial Fibrillation BEFREE 28417287, 31045259, 31544956
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21980415 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35186067 Associate
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 31544956
★☆☆☆☆
Found in Text Mining only
Heart failure Heart Failure BEFREE 31544956
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 21980415 Associate
★☆☆☆☆
Found in Text Mining only