Format

Send to:

Choose Destination

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

Gene ID: 5366, updated on 25-Aug-2020

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
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

Genomic context

See PMAIP1 in Genome Data Viewer
Location:
18q21.32
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (59899996..59904305)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (57567153..57571538)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene glutamate dehydrogenase 1 pseudogene 4 Neighboring gene ribosomal protein lateral stalk subunit P0 pseudogene Neighboring gene uncharacterized LOC105372151 Neighboring gene pleckstrin homology domain containing B2 pseudogene Neighboring gene nuclear factor, erythroid 2 like 3 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of the metabolic syndrome in Indian Asian men.
GeneReviews: Not available
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
GeneReviews: Not available
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
GeneReviews: Not available

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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)

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

    Status: VALIDATED

    Source sequence(s)
    AC107990
  2. NM_001382616.1NP_001369545.1  phorbol-12-myristate-13-acetate-induced protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC107990
    Related
    ENSP00000269518.9, ENST00000269518.9
  3. NM_001382617.1NP_001369546.1  phorbol-12-myristate-13-acetate-induced protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC107990
  4. NM_001382618.1NP_001369547.1  phorbol-12-myristate-13-acetate-induced protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC107990
  5. NM_001382623.1NP_001369552.1  phorbol-12-myristate-13-acetate-induced protein 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC107990
  6. NM_021127.3NP_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
    Q13794
    UniProtKB/TrEMBL
    A0A0S2Z490
    Related
    ENSP00000326119.6, ENST00000316660.6
    Conserved Domains (1) summary
    pfam15150
    Location:154
    PMAIP1; Phorbol-12-myristate-13-acetate-induced

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    59899996..59904305
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center