PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PMAIP1provided by HGNC
Official Full Name: phorbol-12-myristate-13-acetate-induced protein 1provided by HGNC
Primary source: HGNC:HGNC:9108
See related: Ensembl:ENSG00000141682 MIM:604959; AllianceGenome:HGNC:9108
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: APR; NOXA
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]
Expression: Biased expression in bone marrow (RPKM 33.1), placenta (RPKM 8.9) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.32

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (59899996..59904305)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (60102671..60106980)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (57567228..57571537)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The mechanism of mitochondrial metabolic gene PMAIP1 involved in Alzheimer's disease process based on bioinformatics analysis and experimental validation.
Title: The mechanism of mitochondrial metabolic gene PMAIP1 involved in Alzheimer's disease process based on bioinformatics analysis and experimental validation.
Noxa inhibits oncogenesis through ZNF519 in gastric cancer and is suppressed by hsa-miR-200b-3p.
Title: Noxa inhibits oncogenesis through ZNF519 in gastric cancer and is suppressed by hsa-miR-200b-3p.
NOXA expression is downregulated in human breast cancer undergoing incomplete pathological response and senescence after neoadjuvant chemotherapy.
Title: NOXA expression is downregulated in human breast cancer undergoing incomplete pathological response and senescence after neoadjuvant chemotherapy.
The BH3-only protein NOXA serves as an independent predictor of breast cancer patient survival and defines susceptibility to microtubule targeting agents.
Title: The BH3-only protein NOXA serves as an independent predictor of breast cancer patient survival and defines susceptibility to microtubule targeting agents.
BH3 mimetics selectively eliminate chemotherapy-induced senescent cells and improve response in TP53 wild-type breast cancer.
Title: BH3 mimetics selectively eliminate chemotherapy-induced senescent cells and improve response in TP53 wild-type breast cancer.
Noxa upregulation and 5-gene apoptotic biomarker panel in colorectal cancer.
Title: Noxa upregulation and 5-gene apoptotic biomarker panel in colorectal cancer.
Cullin-5 neddylation-mediated NOXA degradation is enhanced by PRDX1 oligomers in colorectal cancer.
Title: Cullin-5 neddylation-mediated NOXA degradation is enhanced by PRDX1 oligomers in colorectal cancer.
TAS4464, a NEDD8-activating enzyme inhibitor, activates both intrinsic and extrinsic apoptotic pathways via c-Myc-mediated regulation in acute myeloid leukemia.
Title: TAS4464, a NEDD8-activating enzyme inhibitor, activates both intrinsic and extrinsic apoptotic pathways via c-Myc-mediated regulation in acute myeloid leukemia.
NOXA upregulation by the prohibitin-binding compound fluorizoline is transcriptionally regulated by integrated stress response-induced ATF3 and ATF4.
Title: NOXA upregulation by the prohibitin-binding compound fluorizoline is transcriptionally regulated by integrated stress response-induced ATF3 and ATF4.
Structural modification of NADPH oxidase activator (Noxa 1) by oxidative stress: An experimental and computational study.
Title: Structural modification of NADPH oxidase activator (Noxa 1) by oxidative stress: An experimental and computational study.

Submit: New GeneRIF Correction See all GeneRIFs (111)

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

EBI GWAS Catalog

Description
A genome-wide association study of the metabolic syndrome in Indian Asian men. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates NOXA expression in Tat-infected Jurkat T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH81004 (e-PCR)
- UniSTS:85553

STS-D90070 (e-PCR)
- UniSTS:75122

RH98852 (e-PCR)
- UniSTS:91100

STS-D90070 (e-PCR)
- UniSTS:10208

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IEA Inferred from Electronic Annotation more info
involved_in T cell homeostasis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to glucose starvation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed
involved_in defense response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in intrinsic apoptotic signaling pathway by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mitochondrial membrane potential	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of glucose metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of release of cytochrome c from mitochondria	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of release of cytochrome c from mitochondria	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasomal protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in reactive oxygen species metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitochondrial membrane permeability	IDA Inferred from Direct Assay more info	PubMed
involved_in release of cytochrome c from mitochondria	IEA Inferred from Electronic Annotation more info
involved_in response to dsRNA	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Bcl-2 family protein complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: phorbol-12-myristate-13-acetate-induced protein 1

Names: PMA-induced protein 1; adult T cell leukemia-derived PMA-responsive; immediate-early-response protein APR; protein Noxa

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)

NM_001382615.1 → NP_001369544.1 phorbol-12-myristate-13-acetate-induced protein 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC107990

Conserved Domains (1) summary

pfam15150
Location:1 → 60

PMAIP1; Phorbol-12-myristate-13-acetate-induced
NM_001382616.1 → NP_001369545.1 phorbol-12-myristate-13-acetate-induced protein 1 isoform 1

Status: VALIDATED

Source sequence(s)

AC107990

Consensus CDS

CCDS92468.1

UniProtKB/TrEMBL

A0A0S2Z4V2

Related

ENSP00000269518.9, ENST00000269518.9

Conserved Domains (1) summary

pfam15150
Location:1 → 21

PMAIP1; Phorbol-12-myristate-13-acetate-induced
NM_001382617.1 → NP_001369546.1 phorbol-12-myristate-13-acetate-induced protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC107990

Conserved Domains (1) summary

pfam15150
Location:1 → 19

PMAIP1; Phorbol-12-myristate-13-acetate-induced
NM_001382618.1 → NP_001369547.1 phorbol-12-myristate-13-acetate-induced protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC107990

Conserved Domains (1) summary

pfam15150
Location:1 → 21

PMAIP1; Phorbol-12-myristate-13-acetate-induced
NM_001382623.1 → NP_001369552.1 phorbol-12-myristate-13-acetate-induced protein 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC107990

Conserved Domains (1) summary

pfam15150
Location:1 → 21

PMAIP1; Phorbol-12-myristate-13-acetate-induced
NM_021127.3 → NP_066950.1 phorbol-12-myristate-13-acetate-induced protein 1 isoform 6

See identical proteins and their annotated locations for NP_066950.1

Status: VALIDATED

Source sequence(s)

BC013120, BC032663, BF667112, BM999509

Consensus CDS

CCDS11975.1

UniProtKB/Swiss-Prot

B2R4T7, Q13794, Q8N589

UniProtKB/TrEMBL

A0A0S2Z490

Related

ENSP00000326119.7, ENST00000316660.7

Conserved Domains (1) summary

pfam15150
Location:1 → 54

PMAIP1; Phorbol-12-myristate-13-acetate-induced