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THAP domain-containing protein 11 (THAP11)
- Target
- THAP11
- Molecular classification
- Transcription factor, DNA-binding protein (zinc-finger superfamily, THAP domain–containing protein)
01
Overview
THAP domain-containing protein 11 is a member of the THAP protein family, characterized by a conserved N-terminal THAP domain that is a zinc-dependent, sequence-specific DNA-binding motif[1][4][5]. THAP11 functions predominantly as a transcription factor, regulating gene sets controlling cell growth, metabolism, cell cycle, and mitochondrial function[2][3][4]. It associates with the transcriptional co-regulator HCF-1, recruiting HCF-1 to target promoters in a complex essential for chromatin association and transcriptional control[2][3]. THAP11's roles are critical for normal cellular proliferation, pluripotency, hematopoiesis, and organ development. Pathologically, altered THAP11 function or expression is implicated in human colon cancer and genetic cobalamin disorder. Alternate names for THAP11 include RONIN (used in mouse), HRIHFB2206, CTG-B45d, CTG-B43a, MAHCL, and SCA51[4].
- Other names
- THAP11RONIN (in mouse)HRIHFB2206CTG-B45dCTG-B43aMAHCLSCA51
02
Biological functions
Regulation of gene transcription (both activation and repression)Cell proliferationRegulation of cell growth and metabolismPluripotency and differentiation (notably in early embryonic development, retina, heart, and brain)Regulation of mitochondrial function via nuclear mitochondrial gene control
03
Disease associations
Cancer (notably human colon cancer)Cobalamin disorder (inborn vitamin B12 deficiency with neurodevelopmental abnormality; associated with THAP11 mutations)
04
Safety considerations
Mutations in THAP11 can cause deleterious effects, including neurodevelopmental abnormality in cobalamin disorderPerturbation of THAP11 may have broad impacts due to essential developmental roles in major organs
05
Biomarkers
Increased THAP11 expression in primary and metastatic colon tumors (potential biomarker for cancer prognosis)THAP11 mutation (F80L) as a genetic biomarker for cobalamin disorder
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