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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) Band 1p36.31 Start 6,579,994 bp End 6,589,280 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 E2 Start 152,104,231 bp End 152,112,128 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 3104 100090 Ensembl ENSG00000204859 ENSMUSG00000028952 UniProt P10074 Q1H9T6 RefSeq (mRNA) NM_001278647 NM_001278648 NM_005341 NM_133879 NM_001379628 RefSeq (protein) NP_001265576 NP_001265577 NP_005332 NP_598640 NP_001366557 Location (UCSC) Chr 1: 6.58 – 6.59 Mb Chr 4: 152.1 – 152.11 Mb PubMed search
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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000204859 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000028952 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Li JS, Miralles Fusté J, Simavorian T, Bartocci C, Tsai J, Karlseder J, Lazzerini Denchi E (February 2017). "TZAP: A telomere-associated protein involved in telomere length control". Science. 355 (6325): 638–641. Bibcode:2017Sci...355..638L. doi:10.1126/science.aah6752. PMC 5518674. PMID 28082411.
6. ^ Jahn A, Rane G, Paszkowski-Rogacz M, Sayols S, Bluhm A, Han CT, Draškovič I, Londoño-Vallejo JA, Kumar AP, Buchholz F, Butter F, Kappei D (June 2017). "ZBTB48 is both a vertebrate telomere-binding protein and a transcriptional activator". EMBO Reports. 18 (6): 929–946. doi:10.15252/embr.201744095. PMC 5452029. PMID 28500257.
7. "Entrez Gene: Zinc finger and BTB domain containing 48".
8. Yoon JH, Choi WI, Jeon BN, Koh DI, Kim MK, Kim MH, Kim J, Hur SS, Kim KS, Hur MW (February 2014). "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. doi:10.1074/jbc.M113.526855. PMC 3924269. PMID 24382891.
9. Maris JM, Jensen SJ, Sulman EP, Beltinger CP, Gates K, Allen C, Biegel JA, Brodeur GM, White PS (July 1996). "Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3". Genomics. 35 (2): 289–98. doi:10.1006/geno.1996.0359. PMID 8661141.
10. Maris JM, Jensen J, Sulman EP, Beltinger CP, Allen C, Biegel JA, Brodeur GM, White PS (October 1997). "Human Krüppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene?". European Journal of Cancer. 33 (12): 1991–6. doi:10.1016/s0959-8049(97)00279-7. PMID 9516840.
11. White PS, Maris JM, Sulman EP, Jensen SJ, Kyemba SM, Beltinger CP, Allen C, Kramer DL, Biegel JA, Brodeur GM (October 1997). "Molecular analysis of the region of distal 1p commonly deleted in neuroblastoma". European Journal of Cancer. 33 (12): 1957–61. doi:10.1016/s0959-8049(97)00311-0. PMID 9516832.
12. Bauer A, Savelyeva L, Claas A, Praml C, Berthold F, Schwab M (July 2001). "Smallest region of overlapping deletion in 1p36 in human neuroblastoma: a 1 Mbp cosmid and PAC contig". Genes, Chromosomes & Cancer. 31 (3): 228–39. doi:10.1002/gcc.1139. PMID 11391793. S2CID 25144352.

Further reading

• Ruppert JM, Kinzler KW, Wong AJ, Bigner SH, Kao FT, Law ML, Seuanez HN, O'Brien SJ, Vogelstein B (August 1988). "The GLI-Kruppel family of human genes". Molecular and Cellular Biology. 8 (8): 3104–13. doi:10.1128/mcb.8.8.3104. PMC 363537. PMID 2850480.
• Sugawara M, Scholl T, Ponath PD, Strominger JL (December 1994). "A factor that regulates the class II major histocompatibility complex gene DPA is a member of a subfamily of zinc finger proteins that includes a Drosophila developmental control protein". Molecular and Cellular Biology. 14 (12): 8438–50. doi:10.1128/mcb.14.12.8438. PMC 359383. PMID 7969177.
• Maris JM, Jensen SJ, Sulman EP, Beltinger CP, Gates K, Allen C, Biegel JA, Brodeur GM, White PS (July 1996). "Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3". Genomics. 35 (2): 289–98. doi:10.1006/geno.1996.0359. PMID 8661141.
• Maris JM, Jensen J, Sulman EP, Beltinger CP, Allen C, Biegel JA, Brodeur GM, White PS (October 1997). "Human Krüppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene?". European Journal of Cancer. 33 (12): 1991–6. doi:10.1016/S0959-8049(97)00279-7. PMID 9516840.

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