THAP7: THAP Domain Containing 7

A zinc finger transcription factor involved in cell cycle regulation and chromatin remodeling

Gene Information Card

Symbol THAP7
Full Name THAP domain containing 7
Gene Type protein-coding
Chromosomal Location 22q11.21
NCBI Gene ID 80764 ncbi.nlm.nih.gov/gene/80764
Ensembl ID ENSG00000184497
UniProt ID Q9BT49
OMIM ID 612532
HGNC ID 23191
Aliases FLJ21908, MGC138290

Description

THAP7 (THAP domain containing 7) encodes a zinc finger protein belonging to the THAP family. The protein contains an N-terminal THAP domain that mediates DNA binding and a C-terminal coiled-coil domain involved in protein-protein interactions. THAP7 acts as a transcriptional repressor by recruiting histone deacetylase complexes to target promoters, thereby regulating cell cycle progression and chromatin structure. It is implicated in cellular proliferation and differentiation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Prostate cancer THAP7 overexpression may promote tumor growth via dysregulation of cell cycle genes COSMIC; PMID: 20628086
Colorectal cancer Altered THAP7 expression linked to aberrant chromatin remodeling and proliferation COSMIC; PMID: 22037554
Lung cancer THAP7 mutations and copy number alterations observed in adenocarcinoma COSMIC; PMID: 22955915

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Thyroid 9.8 Medium
Prostate 8.2 Medium
Lung 6.1 Low
Colon 5.4 Low
Breast 4.7 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 10.3 Cervical cancer cell line
A549 7.8 Lung adenocarcinoma cell line
MCF7 6.2 Breast cancer cell line
HCT116 5.9 Colorectal carcinoma cell line
HEK293 4.5 Embryonic kidney cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.374C>T (p.Pro125Leu) Missense <0.1% Unknown functional effect
c.458G>A (p.Arg153Gln) Missense <0.1% Unknown functional effect
c.601_603del (p.Lys201del) In-frame deletion <0.1% Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in major databases.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Pathways

• Chromatin organization (Reactome: R-HSA-4839726)
• Transcriptional regulation by THAP proteins (Reactome: R-HSA-6807062)

Protein Summary

THAP7 is a 263-amino acid nuclear protein with a molecular weight of approximately 29 kDa. It contains a THAP domain (residues 1-80) that binds DNA in a sequence-specific manner, and a coiled-coil domain (residues 180-230) that mediates homodimerization and interaction with HDAC3. THAP7 functions as a transcriptional repressor by recruiting the NCoR/SMRT-HDAC3 complex to target gene promoters, leading to histone deacetylation and chromatin compaction. It is widely expressed in adult tissues, with highest levels in testis and thyroid. THAP7 plays a role in cell cycle control and its dysregulation has been associated with several cancers.

Related Products

Product name Cat.No. Species Gene ID
THAP7 Knockout HEK293 Cell Line EDJ-KQ2856 Human 80764 Details Get a Quote
THAP7 Knockout A-549 Cell Line EDJ-KQ22503 Human 80764 Details Get a Quote
THAP7 Knockout HCT 116 Cell Line EDJ-KQ23872 Human 80764 Details Get a Quote
THAP7 Knockout HeLa Cell Line EDJ-KQ23873 Human 80764 Details Get a Quote
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