THAP12 THAP domain containing 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: THAP12provided by HGNC
Official Full Name: THAP domain containing 12provided by HGNC
Primary source: HGNC:HGNC:9440
See related: Ensembl:ENSG00000137492 MIM:607374; AllianceGenome:HGNC:9440
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: DAP4; THAP0; PRKRIR; P52rIPK
Summary: Predicted to enable several functions, including DNA binding activity; metal ion binding activity; and protein dimerization activity. Predicted to be involved in negative regulation of cell population proliferation and signal transduction. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in lymph node (RPKM 20.3), thyroid (RPKM 16.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.5

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (76349956..76381132, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (76279675..76310857, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (76061000..76092176, complement)

Chromosome 11 - NC_000011.10 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 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?

PRKRIR provides a novel positive regulator controlling the RIG-I-IFN production system through protein stability control.
Title: A protein-kinase, IFN-inducible double-stranded RNA dependent inhibitor and repressor of p58 (PRKRIR) enhances type I IFN-mediated antiviral response through the stability control of RIG-I protein.
Meta-analysis of gene-disease association. (HuGE Navigator)
Title: Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
Observational study of gene-disease association. (HuGE Navigator)
Title: Dengue hemorrhagic fever is associated with polymorphisms in JAK1.
role in promoting MST1-induced apoptosis by enabling colocalization of MST with p53
Title: Death-associated protein 4 binds MST1 and augments MST1-induced apoptosis.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

D8S2279 (e-PCR)
- UniSTS:473907

RH66969 (e-PCR)
- UniSTS:87621

RH80030 (e-PCR)
- UniSTS:87680

G34946 (e-PCR)
- UniSTS:117657

A008B11 (e-PCR)
- UniSTS:18859

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in negative regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 52 kDa repressor of the inhibitor of the protein kinase

Names: 58 kDa interferon-induced protein kinase-interacting protein; P58IPK-regulatory protein; THAP domain-containing protein 0; THAP domain-containing protein 12; death-associated protein 4; inhibitor of protein kinase PKR; p58IPK-interacting protein; protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor); testicular tissue protein Li 133

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_004705.4 → NP_004696.2 52 kDa repressor of the inhibitor of the protein kinase

See identical proteins and their annotated locations for NP_004696.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript.

Source sequence(s)

AA765102, AF081567, AP002360, DR005363

Consensus CDS

CCDS8243.1

UniProtKB/Swiss-Prot

A8K728, O43422, Q17RY9, Q8WTW1, Q9Y3Z4

UniProtKB/TrEMBL

A0A140VJQ7, Q2YDB3

Related

ENSP00000260045.3, ENST00000260045.8

Conserved Domains (3) summary

pfam05485
Location:6 → 86

THAP; THAP domain

pfam05699
Location:672 → 729

Dimer_Tnp_hAT; hAT family C-terminal dimerization region

pfam14291
Location:157 → 330

DUF4371; Domain of unknown function (DUF4371)

RNA

NR_130898.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA765102, AF081567, AP002360, DR005363

Related

ENST00000684702.1