ZBTB48

Last updated
ZBTB48
Available structures
PDB Ortholog search: PDBe RCSB
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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]

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Zinc finger and BTB domain-containing protein 16 Protein-coding gene in the species Homo sapiens

Zinc finger and BTB domain-containing protein 16 is a protein that in humans is encoded by the ZBTB16 gene.

KLF6 Protein-coding gene in the species Homo sapiens

Krueppel-like factor 6 is a protein that in humans is encoded by the KLF6 gene.

KLF4 Protein-coding gene in the species Homo sapiens

Kruppel-like factor 4 is a member of the KLF family of zinc finger transcription factors, which belongs to the relatively large family of SP1-like transcription factors. KLF4 is involved in the regulation of proliferation, differentiation, apoptosis and somatic cell reprogramming. Evidence also suggests that KLF4 is a tumor suppressor in certain cancers, including colorectal cancer. It has three C2H2-zinc fingers at its carboxyl terminus that are closely related to another KLF, KLF2. It has two nuclear localization sequences that signals it to localize to the nucleus. In embryonic stem cells (ESCs), KLF4 has been demonstrated to be a good indicator of stem-like capacity. It is suggested that the same is true in mesenchymal stem cells (MSCs).

NME1

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RE1-silencing transcription factor

RE1-Silencing Transcription factor (REST), also known as Neuron-Restrictive Silencer Factor (NRSF), is a protein which in humans is encoded by the REST gene, and acts as a transcriptional repressor. REST is expressly involved in the repression of neural genes in non-neuronal cells. Many genetic disorders have been tied to alterations in the REST expression pattern, including colon and small-cell lung carcinomas found with truncated versions of REST. In addition to these cancers, defects in REST have also been attributed a role in Huntington Disease, neuroblastomas, and the effects of epileptic seizures and ischemia.

ID3 (gene) Protein-coding gene in the species Homo sapiens

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CDC2L2 Protein-coding gene in the species Homo sapiens

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KLF2 Protein-coding gene in the species Homo sapiens

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ZBTB33 Protein-coding gene in the species Homo sapiens

Transcriptional regulator Kaiso is a protein that in humans is encoded by the ZBTB33 gene. This gene encodes a transcriptional regulator with bimodal DNA-binding specificity, which binds to methylated CGCG and also to the non-methylated consensus KAISO-binding site TCCTGCNA. The protein contains an N-terminal POZ/BTB domain and 3 C-terminal zinc finger motifs. It recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. It may contribute to the repression of target genes of the Wnt signaling pathway, and may also activate transcription of a subset of target genes by the recruitment of catenin delta-2 (CTNND2). Its interaction with catenin delta-1 (CTNND1) inhibits binding to both methylated and non-methylated DNA. It also interacts directly with the nuclear import receptor Importin-α2, which may mediate nuclear import of this protein. Alternatively spliced transcript variants encoding the same protein have been identified.

Carbonic anhydrase VI Protein-coding gene in the species Homo sapiens

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ZBTB7A

Zinc finger and BTB domain-containing protein 7A is a protein that in humans is encoded by the ZBTB7A gene.

KLF12 Protein-coding gene in the species Homo sapiens

Krueppel-like factor 12 is a protein that in humans is encoded by the KLF12 gene.

ZBTB32 Protein-coding gene in the species Homo sapiens

Zinc finger and BTB domain-containing protein 32 is a protein that in humans is encoded by the 1960 bp ZBTB32 gene. The 52 kDa protein is a transcriptional repressor and the gene is expressed in T and B cells upon activation, but also significantly in testis cells. It is a member of the Poxviruses and Zinc-finger (POZ) and Krüppel (POK) family of proteins, and was identified in multiple screens involving either immune cell tumorigenesis or immune cell development.

HKR1 Protein-coding gene in the species Homo sapiens

Krueppel-related zinc finger protein 1 is a protein that in humans is encoded by the HKR1 gene.

ZNF160

Zinc finger protein 160 is a protein that, in humans, is encoded by the ZNF160 gene.

HMBOX1 Protein-coding gene in the species Homo sapiens

Homeobox containing 1, also known as homeobox telomere-binding protein 1 (HOT1), is a protein that in humans is encoded by the HMBOX1 gene. HMBOX1 directly binds to the double-stranded repeat sequence of telomeres.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000204859 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 3 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. 1 2 3 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