Biology:ZBTB48

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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.[1][2] In humans it is encoded by the ZBTB48 gene.[3]

Loss of ZBTB48 has been shown to lead to telomere elongation both in cells with long[1] and short telomeres.[2] 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.[1] Beyond its telomeric function, ZBTB48 acts as a transcriptional activator on a small set of target genes, including mitochondrial fission process 1 (MTFP1)[2] and CDKN2A.[4] 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,[5][6][7] but not without dispute.[8]

References

  1. 1.0 1.1 1.2 "TZAP: A telomere-associated protein involved in telomere length control". Science 355 (6325): 638–641. February 2017. doi:10.1126/science.aah6752. PMID 28082411. Bibcode2017Sci...355..638L. 
  2. 2.0 2.1 2.2 "ZBTB48 is both a vertebrate telomere-binding protein and a transcriptional activator". EMBO Reports 18 (6): 929–946. June 2017. doi:10.15252/embr.201744095. PMID 28500257. 
  3. "Entrez Gene: Zinc finger and BTB domain containing 48". https://www.ncbi.nlm.nih.gov/gene/3104. 
  4. "Human Kruppel-related 3 (HKR3) is a novel transcription activator of alternate reading frame (ARF) gene". The Journal of Biological Chemistry 289 (7): 4018–31. February 2014. doi:10.1074/jbc.M113.526855. PMID 24382891. 
  5. "Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3". Genomics 35 (2): 289–98. July 1996. doi:10.1006/geno.1996.0359. PMID 8661141. 
  6. "Human Krüppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene?". European Journal of Cancer 33 (12): 1991–6. October 1997. doi:10.1016/s0959-8049(97)00279-7. PMID 9516840. 
  7. "Molecular analysis of the region of distal 1p commonly deleted in neuroblastoma". European Journal of Cancer 33 (12): 1957–61. October 1997. doi:10.1016/s0959-8049(97)00311-0. PMID 9516832. 
  8. "Smallest region of overlapping deletion in 1p36 in human neuroblastoma: a 1 Mbp cosmid and PAC contig". Genes, Chromosomes & Cancer 31 (3): 228–39. July 2001. doi:10.1002/gcc.1139. PMID 11391793. 

Further reading