GeneBe

TP53INP1

tumor protein p53 inducible nuclear protein 1

Basic information

Region (hg38): 8:94925972-94949378

Links

ENSG00000164938 ∙ NCBI:94241 ∙ OMIM:606185 ∙ HGNC:18022 ∙ Uniprot:Q96A56 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TP53INP1 gene.

  • not_specified (33 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TP53INP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033285.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
31
clinvar
2
clinvar
 33
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 31 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TP53INP1protein_codingprotein_codingENST00000342697 323440
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.0004660.6841257120361257480.000143
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3371231340.9180.000006891616
Missense in Polyphen3439.2360.86656470
Synonymous0.2684042.20.9470.00000191428
Loss of Function0.79768.510.7053.60e-7109

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007860.000760
Ashkenazi Jewish0.000.00
East Asian0.0001090.000109
Finnish0.00004620.0000462
European (Non-Finnish)0.0001410.000141
Middle Eastern0.0001090.000109
South Asian0.00006530.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Antiproliferative and proapoptotic protein involved in cell stress response which acts as a dual regulator of transcription and autophagy. Acts as a positive regulator of autophagy. In response to cellular stress or activation of autophagy, relocates to autophagosomes where it interacts with autophagosome-associated proteins GABARAP, GABARAPL1/L2, MAP1LC3A/B/C and regulates autophagy. Acts as an antioxidant and plays a major role in p53/TP53-driven oxidative stress response. Possesses both a p53/TP53-independent intracellular reactive oxygen species (ROS) regulatory function and a p53/TP53-dependent transcription regulatory function. Positively regulates p53/TP53 and p73/TP73 and stimulates their capacity to induce apoptosis and regulate cell cycle. In response to double-strand DNA breaks, promotes p53/TP53 phosphorylation on 'Ser-46' and subsequent apoptosis. Acts as a tumor suppressor by inducing cell death by an autophagy and caspase-dependent mechanism. Can reduce cell migration by regulating the expression of SPARC. {ECO:0000269|PubMed:11511362, ECO:0000269|PubMed:22421968, ECO:0000269|PubMed:22470510}.;
Pathway
HTLV-I infection - Homo sapiens (human);miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;TP53 Regulates Transcription of Cell Death Genes;Gene expression (Transcription);Generic Transcription Pathway;TP53 Regulates Transcription of Cell Death Genes;RNA Polymerase II Transcription;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Activity;Transcriptional Regulation by TP53;Direct p53 effectors (Consensus)

Recessive Scores

pRec
0.280

Intolerance Scores

loftool
0.841
rvis_EVS
-0.21
rvis_percentile_EVS
38.58

Haploinsufficiency Scores

pHI
0.404
hipred
Y
hipred_score
0.728
ghis
0.440

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.825

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Trp53inp1
Phenotype
neoplasm; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); liver/biliary system phenotype; immune system phenotype; digestive/alimentary phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
autophagosome assembly;apoptotic process;cell cycle arrest;negative regulation of cell population proliferation;response to heat;positive regulation of autophagy;negative regulation of gene expression;negative regulation of cell migration;cellular response to UV;regulation of apoptotic process;positive regulation of apoptotic process;positive regulation of transcription, DNA-templated;autophagic cell death;negative regulation of fibroblast proliferation;cellular response to ethanol;cellular response to hydroperoxide;cellular response to methyl methanesulfonate;cellular oxidant detoxification;regulation of signal transduction by p53 class mediator;negative regulation of myofibroblast differentiation
Cellular component
nucleus;nucleoplasm;autophagosome;cytosol;PML body;cytoplasmic vesicle
Molecular function
protein binding;antioxidant activity