Gene Gene information from NCBI Gene database.
Entrez ID 64112
Gene name Modulator of apoptosis 1
Gene symbol MOAP1
Synonyms (NCBI Gene)
MAP-1PNMA4
Chromosome 14
Chromosome location 14q32.12
Summary The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexpressed, this gene has been show
miRNA miRNA information provided by mirtarbase database.
511
miRTarBase ID miRNA Experiments Reference
MIRT006333 hsa-miR-1228-3p qRT-PCRWestern blot 22434376
MIRT006333 hsa-miR-1228-3p qRT-PCRWestern blot 22434376
MIRT006333 hsa-miR-1228-3p qRT-PCRWestern blot 22434376
MIRT024361 hsa-miR-215-5p Microarray 19074876
MIRT026155 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11060313, 25416956, 31515488, 32296183
GO:0005737 Component Cytoplasm IDA
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IDA 19100260
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609485 16658 ENSG00000165943
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96BY2
Protein name Modulator of apoptosis 1 (MAP-1) (MAP1) (Paraneoplastic antigen Ma4)
Protein function Retrotransposon-derived protein that forms virion-like capsids (By similarity). Acts as an effector of BAX during apoptosis: enriched at outer mitochondria membrane and associates with BAX upon induction of apoptosis, facilitating BAX-dependent
PDB 7LGC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14893 PNMA 1 326 PNMA Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with high levels in heart and brain. {ECO:0000269|PubMed:19366867}.
Sequence
Sequence length 351
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
ENDOMETRIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT 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
Acute Cerebrovascular Accidents Stroke BEFREE 30132384
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 38057311 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 25998847
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 27721409
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 30132384
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29942139, 31064356
★☆☆☆☆
Found in Text Mining only
Dementia, Vascular Dementia BEFREE 30734924
★☆☆☆☆
Found in Text Mining only
Fanconi Anemia Fanconi anemia Pubtator 31940411 Associate
★☆☆☆☆
Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia BEFREE 20008565
★☆☆☆☆
Found in Text Mining only
Ischemic stroke Ischemic Stroke BEFREE 30132384
★☆☆☆☆
Found in Text Mining only