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
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; ; right lobe of thyroid gland; ; anterior pituitary; ; left lobe of thyroid gland; ; spleen; ; right uterine tube; ; monocyte; ; canal of the cervix; ; tibial nerve; ; skin of abdomen;
	Top expressed in
	spermatocyte; ; morula; ; spermatid; ; female urethra; ; male urethra; ; left lobe of liver; ; yolk sac; ; thymus; ; proximal tubule; ; lip;
	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.^[5]^[6] In humans it is encoded by the ZBTB48 gene.^[7]

Loss of ZBTB48 has been shown to lead to telomere elongation both in cells with long^[5] and short telomeres.^[6] 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.^[5] Beyond its telomeric function, ZBTB48 acts as a transcriptional activator on a small set of target genes, including mitochondrial fission process 1 (MTFP1)^[6] and CDKN2A.^[8] 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,^[9]^[10]^[11] but not without dispute.^[12]

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000204859 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028952 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b ^c 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.
^ ^a ^b ^c 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.
^ "Entrez Gene: Zinc finger and BTB domain containing 48".
^ 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.
^ 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.
^ 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.
^ 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.

ZBTB48

References edit

Further reading edit