ZBTB48
Sign in to saveAlso known as HKR3, ZNF855, pp9964, zinc finger and BTB domain containing 48, TZAP, telomeric zinc-finger associated protein
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.
Gene data
ZBTB48- Name
- zinc finger and BTB domain containing 48
- Type
- protein-coding
- Position
- 6,579,994–6,589,290 (+)
- Aliases
- HKR3, TZAP, ZNF855, pp9964
- Ensembl
- ENSG00000204859
- RefSeq RNA
- NM_001278647.2, NM_001278648.2, NM_005341.4, XM_017001111.3, XM_047418864.1
- RefSeq protein
- NP_001265576.1, NP_001265577.1, NP_005332.1, XP_016856600.1, XP_047274820.1
Enables double-stranded telomeric DNA binding activity; identical protein binding activity; and transcription cis-regulatory region binding activity. Involved in positive regulation of transcription, DNA-templated and telomere maintenance via telomere lengthening. Located in chromosome, telomeric region. [provided by Alliance of Genome Resources, Apr 2022]
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
zinc finger and BTB domain containing 48
- Symbol
- ZBTB48
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:6,579,994-6,589,290
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 3905
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/3104
- genomic end
- 6649340
- genomic start
- 6579994
- chromosome
- human chromosome 1
- cytogenetic location
- 1p36.31
- expressed in
- spleen
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
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.
Excerpted from Wikipedia’s “ZBTB48” article, available under the CC BY-SA 4.0 licence.