ZBTB48

ZBTB48
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3B84
Identifiers
Aliases	ZBTB48, HKR3, ZNF855, pp9964, zinc finger and BTB domain containing 48, TZAP, telomeric zinc-finger associated protein
External IDs	OMIM: 165270; MGI: 2140248; HomoloGene: 3905; GeneCards: ZBTB48; OMA:ZBTB48 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	6,589,280 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	152,112,128 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; left testis; ; granulocyte; ; right testis; ; mucosa of transverse colon; ; right lobe of thyroid gland; ; anterior pituitary; ; right ovary; ; left lobe of thyroid gland; ; spleen;
	Top expressed in
	spermatocyte; ; morula; ; granulocyte; ; primary oocyte; ; spermatid; ; female urethra; ; ventricular zone; ; male urethra; ; neural layer of retina; ; left lobe of liver;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA-binding transcription factor activity; DNA binding; protein binding; metal ion binding; nucleic acid binding; identical protein binding; double-stranded telomeric DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleus; nucleoplasm; cytosol; telomere; chromosome;
Biological process	regulation of transcription, DNA-templated; transcription, DNA-templated; telomere maintenance via telomere lengthening; positive regulation of transcription, DNA-templated; regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	3104
	100090
	ENSG00000204859
	ENSMUSG00000028952
	P10074
	Q1H9T6
	NM_001278647; NM_001278648; NM_005341
	NM_133879; NM_001379628
	NP_001265576; NP_001265577; NP_005332
	NP_598640; NP_001366557
	Wikidata
View/Edit Human	View/Edit Mouse

Zinc finger and BTB domain containing 48 (ZBTB48), also known as telomeric zinc-finger associated protein (TZAP), is a protein that directly binds to the double-stranded repeat sequence of telomeres. In humans it is encoded by the ZBTB48 gene.

Loss of ZBTB48 has been shown to lead to telomere elongation both in cells with long and short telomeres. In addition, overexpression of ZBTB48 in cancer cells maintaining their telomeres based on the Alternative Lengthening of Telomeres (ALT) mechanism leads to trimming of telomeres. Beyond its telomeric function, ZBTB48 acts as a transcriptional activator on a small set of target genes, including mitochondrial fission process 1 (MTFP1) and CDKN2A. ZBTB48 localizes to chromosome 1p36, a region that is frequently rearranged (leiomyoma & leukaemia) or deleted (neuroblastoma, melanoma, Merkel cell carcinoma, pheochromocytoma, and carcinomas of colon and breast) in different human cancers and therefore might be a putative tumour suppressor, but not without dispute.