ZBTB48

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]

PDBOrtholog search: PDBe RCSB

AliasesZBTB48, HKR3, ZNF855, pp9964, zinc finger and BTB domain containing 48, TZAP, telomeric zinc-finger associated protein

External IDsOMIM: 165270; MGI: 2140248; HomoloGene: 3905; GeneCards: ZBTB48; OMA:ZBTB48 - orthologs

Chr.Chromosome 1 (human)^[1]

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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)[1] Band 1p36.31 Start 6,579,994 bp[1] End 6,589,280 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 E2 Start 152,104,231 bp[2] End 152,112,128 bp[2]
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 [3] [4]
Wikidata
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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]