Gene Gene information from NCBI Gene database.
Entrez ID 5366
Gene name Phorbol-12-myristate-13-acetate-induced protein 1
Gene symbol PMAIP1
Synonyms (NCBI Gene)
APRNOXA
Chromosome 18
Chromosome location 18q21.32
Summary This gene belongs to a pro-apoptotic subfamily within the BCL-2 protein family, referred to as the BCL-2 homology domain 3 (BH3)-only subfamily, which determine whether a cell commits to apoptosis. In response to death-inducing stimuli, BH3-only members i
miRNA miRNA information provided by mirtarbase database.
1093
miRTarBase ID miRNA Experiments Reference
MIRT007018 hsa-miR-200c-3p 5.0 22615771
MIRT021168 hsa-miR-186-5p Sequencing 20371350
MIRT027675 hsa-miR-98-5p Microarray 19088304
MIRT029656 hsa-miR-26b-5p Sequencing 20371350
MIRT045943 hsa-miR-125b-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Transcription factor Regulation Reference
ATM Repression 20368352
ESR1 Activation 22216287
KLF6 Activation 22718761
KLF9 Repression 22144178
MYC Activation 22216287
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0001836 Process Release of cytochrome c from mitochondria IEA
GO:0005515 Function Protein binding IPI 15705586, 15901672, 20085765, 21132008, 21145489, 21454712, 23563182, 32296183, 33961781
GO:0005634 Component Nucleus IDA 12879012
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604959 9108 ENSG00000141682
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13794
Protein name Phorbol-12-myristate-13-acetate-induced protein 1 (PMA-induced protein 1) (Immediate-early-response protein APR) (Protein Noxa)
Protein function Promotes activation of caspases and apoptosis. Promotes mitochondrial membrane changes and efflux of apoptogenic proteins from the mitochondria. Contributes to p53/TP53-dependent apoptosis after radiation exposure. Promotes proteasomal degradati
PDB 3MQP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15150 PMAIP1 1 54 Phorbol-12-myristate-13-acetate-induced Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in adult T-cell leukemia cell line.
Sequence
Sequence length 54
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Platinum drug resistance
p53 signaling pathway
Apoptosis
Apoptosis - multiple species
Pathways in cancer
Viral carcinogenesis
Colorectal cancer
  Activation of NOXA and translocation to mitochondria
BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL CTD
★★☆☆☆
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 lymphocytic leukemia Lymphocytic Leukemia BEFREE 31073076
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 21114538
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 24072590
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 16960149
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 30290043
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 19528037
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 30290043
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 19525395 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 15561702 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 24117128, 28619845, 28901386, 31721706
★☆☆☆☆
Found in Text Mining only