ZBTB48

Protein-coding gene in the species Homo sapiens

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]
Band	1p36.31	End	6,589,280 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 4 (mouse)^[2]

Band	4\|4 E2	Start	152,104,231 bp^[2]
Band	4\|4 E2	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

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

^ ^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.