PMAIP1 - phorbol-12-myristate-13-acetate-induced protein 1 Gene

Also Known as APR; NOXA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5366

About PMAIP1

Cytogenetic location: 18q21.32 Genomic coordinates (GRCh38): 18:59,899,996-59,904,305 (from NCBI)

This gene has 3 transcripts (splice variants) and 50 orthologues. Biased expression in bone marrow (RPKM 33.1), placenta (RPKM 8.9) and 12 other tissues.

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 inhibit the anti-apoptotic Bcl-2 Family members, which under steady-state conditions keep the multi-BH domain proteins Bax and Bak, in an inactive state. [provided by RefSeq, Aug 2020]

PMAIP1 Products (6)

mRNA Protein Name
NM_001382615.1 NP_001369544.1 phorbol-12-myristate-13-acetate-induced protein 1 isoform 5
NM_001382616.1 NP_001369545.1 phorbol-12-myristate-13-acetate-induced protein 1 isoform 1
NM_001382617.1 NP_001369546.1 phorbol-12-myristate-13-acetate-induced protein 1 isoform 3
NM_001382618.1 NP_001369547.1 phorbol-12-myristate-13-acetate-induced protein 1 isoform 2
NM_001382623.1 NP_001369552.1 phorbol-12-myristate-13-acetate-induced protein 1 isoform 4
NM_021127.3 NP_066950.1 phorbol-12-myristate-13-acetate-induced protein 1 isoform 6
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15705586 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within apoptotic process IMP
IMP: Inferred from mutant phenotype
17599062 GOA
involved in cellular response to glucose starvation IMP
IMP: Inferred from mutant phenotype
21145489 GOA
involved in cellular response to hypoxia IEP
IEP: Inferred from expression pattern
14699081 GOA
involved in defense response to virus IDA
IDA: Inferred from direct assay
15705586 GOA
involved in intrinsic apoptotic signaling pathway IDA
IDA: Inferred from direct assay
14500711 GOA
involved in intrinsic apoptotic signaling pathway by p53 class mediator IMP
IMP: Inferred from mutant phenotype
15102863 GOA
involved in positive regulation of DNA damage response, signal transduction by p53 class mediator IMP
IMP: Inferred from mutant phenotype
15102863 GOA
involved in positive regulation of apoptotic process IDA
IDA: Inferred from direct assay
21132008 GOA
involved in positive regulation of apoptotic process IMP
IMP: Inferred from mutant phenotype
17289999 GOA
involved in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
IDA: Inferred from direct assay
14699081 GOA
involved in positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IDA
IDA: Inferred from direct assay
15705586 GOA
involved in positive regulation of glucose metabolic process IDA
IDA: Inferred from direct assay
21145489 GOA
involved in positive regulation of intrinsic apoptotic signaling pathway IDA
IDA: Inferred from direct assay
21454712 GOA
involved in positive regulation of release of cytochrome c from mitochondria IDA
IDA: Inferred from direct assay
14500711 GOA
involved in positive regulation of release of cytochrome c from mitochondria IMP
IMP: Inferred from mutant phenotype
15705586 GOA
involved in proteasomal protein catabolic process IDA
IDA: Inferred from direct assay
15901672 GOA
involved in reactive oxygen species metabolic process IDA
IDA: Inferred from direct assay
14699081 GOA
involved in regulation of mitochondrial membrane permeability IDA
IDA: Inferred from direct assay
14500711 GOA
involved in response to dsRNA IDA
IDA: Inferred from direct assay
15705586 GOA
Cellular Component GO Annotation Evidence References Source
part of Bcl-2 family protein complex IPI
IPI: Inferred from physical interaction
21132008 GOA
located in cytosol IDA
IDA: Inferred from direct assay
15705586 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
14500711 GOA
located in nucleus IDA
IDA: Inferred from direct assay
12879012 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PMAIP1 Protein Structure

PMAIP1

PMAIP1: Phorbol-12-myristate-13-acetate-induced (1 - 54)

  • 0
  • 54 a.a.
Protein Preferred Names Protein Names

phorbol-12-myristate-13-acetate-induced protein 1

  • PMA-induced protein 1

PMAIP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PMAIP1 Q13794 BCL2 Homo sapiens P10415-1 21454712
Intra
PMAIP1 Q13794 BCL2 Homo sapiens P10415 21454712
Intra
PMAIP1 Q13794 BCL2 Homo sapiens P10415 21454712
Cross: Cross-species interaction Intra: Intraspecies interaction

PMAIP1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82808 NOXA Antibody (YA2553) WB Human
HY-P82808A NOXA Antibody (YA2553)(PBS only) WB Human

Related Diseases

Diseases Alias
Leukemia
  • Leukemias

  • Leukaemia, Unspecified, Without Mention Of Remission

  • Aleukemic Leukaemia

  • Chronic Leukaemia

  • Subacute Leukaemia

  • Leukaemia Disorder

  • Leukaemia Nos

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Mantle Cell Lymphoma
  • Lymphoma, Mantle Cell

  • Lcm

  • Mcl

  • Mantle Zone Lymphoma

  • Lymphoma Mantle-Cell

  • Lymphoma, Mantle-Cell

  • Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse

  • Malignant Lymphoma - Lymphocytic, Intermediate Differentiation

  • Diffuse Small Cleaved-Cell Lymphoma

  • Diffuse Small Cleaved Cell Malignant Lymphoma

  • Small Cleaved Cell Non-Hodgkin Lymphoma

  • Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma

  • Malignant Lymphomatous Polyposis

  • Malignant Small Cell, Noncleaved, Diffuse Lymphoma

  • Malignant Undifferentiated Cell, Non-Burkitt Lymphoma

  • Cleaved Cell Lymphoma

  • Small Cell Mantle Cell Lymphoma

  • Small Cleaved Cell Malignant Lymphoma

Rhabdomyosarcoma
Pyriform Sinus Cancer
  • Malignant Neoplasm Of Pyriform Fossa

  • Malignant Neoplasm Of The Pyriform Fossa

  • Malignant Tumor Of Pyriform Fossa

Hyperinsulinemic Hypoglycemia, Familial, 1
  • HHF1

  • Persistent Hyperinsulinemic Hypoglycemia Of Infancy

  • Familial Hyperinsulinemic Hypoglycemia 1

  • Congenital Hyperinsulinism

  • Phhi

  • Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency

  • Hypoglycemia, Hyperinsulinemic, Of Infancy

  • Hyperinsulinemic Hypoglycemia Due To Focal Adenomatous Hyperplasia

  • Nesidioblastosis Of Pancreas

  • Hyperinsulinism, Familial, With Pancreatic Nesidioblastosis

  • Hyperinsulinism, Congenital

  • Autosomal Dominant Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency

  • Diazoxide-Resistant Focal Hyperinsulinism Due To Sur1 Deficiency

  • Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency, Diazoxide-Resistant Focal Form

  • Autosomal Recessive Hyperinsulinism Due To Sur1 Deficiency

  • Autosomal Recessive Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency

  • Hypoglycemia, Hyperinsulinemic, Familial, Type 1

Li-Fraumeni Syndrome
  • Sarcoma Family Syndrome Of Li And Fraumeni

  • Sbla Syndrome

  • LFS

  • Li-Fraumeni Familiar Cancer Susceptibility Syndrome

  • Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

  • Lfs1

  • Li Fraumeni Syndrome

  • Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

  • Lfl

  • Sbla Syndrome Li-Fraumeni-Like Syndrome

  • Li-Fraumeni Syndrome 1

Leukemia, Chronic Lymphocytic
  • Chronic Lymphocytic Leukemia

  • B-Cell Chronic Lymphocytic Leukemia

  • CLL

  • B-Cell Chronic Lymphoid Leukemia

  • Chronic Lymphatic Leukemia

  • Chronic Lymphocytic Leukaemia

  • Lymphoplasmacytic Leukemia

  • Small Lymphocytic Lymphoma

  • Leukemia, Chronic Lymphatic

  • B-Cell Chronic Lymphocytic Leukaemia

  • Chronic Lymphatic Leukaemia

  • Lymphoplasmacytic Leukaemia

  • B Cell Chronic Lymphocytic Leukemia

  • Chronic B-Cell Lymphocytic Leukemia

  • Leukemia, Lymphocytic, Chronic

  • B-Cll

  • Chronic Lymphoid Leukemia

  • Leukemia Lymphocytic Chronic

  • Lymphoma Small Lymphocytic

  • Leukemia, Lymphocytic, Chronic, B-Cell

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris PMAIP1 VGNC VGNC:53752
Bos taurus PMAIP1 VGNC VGNC:106870
Mus musculus PMAIP1 MGD MGI:1930146
Rattus norvegicus PMAIP1 RGD RGD:1359266
Felis catus PMAIP1 VGNC VGNC:107717
Others PMAIP1 NCBI