zinc finger and BTB domain containing 48 [ Homo sapiens (human)
]
Gene ID: 3104, updated on
7-Jul-2019
- Official Symbol ZBTB48.
- Official Full Name zinc finger and BTB domain containing 48.
- Also known as HKR3; TZAP; ZNF855; pp9964
- Expression: Ubiquitous expression in testis (RPKM 9.3), spleen (RPKM 7.4) and 25 other tissues See
- Preferred Names
- telomere zinc finger-associated protein
- Names
- GLI-Kruppel family member HKR3
- krueppel-related zinc finger protein 3
- telomeric zinc finger-associated protein
- zinc finger and BTB domain-containing protein 48
- zinc finger protein 855
- NM_001278647.2 → NP_001265576.1 telomere zinc finger-associated protein
- Conserved Domains (6) summary
-
- COG5048
Location:464 → 612 - COG5048; FOG: Zn-finger [General function prediction only]
- COG5189
Location:374 → 459 - SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
- sd00017
Location:467 → 487 - ZF_C2H2; C2H2 Zn finger [structural motif]
- sd00019
Location:409 → 425 - ZF_C2H2; C2H2 Zn finger [structural motif]
- pfam00651
Location:16 → 119 - BTB; BTB/POZ domain. The BTB (for BR-C, ttk and bab) or POZ (for Pox virus and Zinc finger) domain is present near the N-terminus of a fraction of zinc finger (pfam00096) proteins and in proteins that contain the pfam01344 motif such as Kelch and a family of pox virus proteins. The BTB/POZ domain mediates homomeric dimerisation and in some instances heteromeric dimerisation. The structure of the dimerized PLZF BTB/POZ domain has been solved and consists of a tightly intertwined homodimer. The central scaffolding of the protein is made up of a cluster of alpha-helices flanked by short beta-sheets at both the top and bottom of the molecule. POZ domains from several zinc finger proteins have been shown to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes including N-CoR and SMRT. The POZ or BTB domain is also known as BR-C/Ttk or ZiN.
- pfam13465
Location:305 → 328 - zf-H2C2_2; Zinc-finger double domain
- COG5048
FEATURES Location/Qualifiers source 1..688 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.31" Protein 1..688 /product="telomere zinc finger-associated protein" /note="GLI-Kruppel family member HKR3; zinc finger and BTB domain-containing protein 48; krueppel-related zinc finger protein 3; zinc finger protein 855; telomeric zinc finger-associated protein" /calculated_mol_wt=76923 Region 16..119 /region_name="BTB" /note="BTB/POZ domain; pfam00651" /db_xref="CDD:306997" Site 169 /site_type="phosphorylation" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine. {ECO:0000244|PubMed:24275569}; propagated from UniProtKB/Swiss-Prot (P10074.2)" Site 171 /site_type="phosphorylation" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine. {ECO:0000244|PubMed:24275569}; propagated from UniProtKB/Swiss-Prot (P10074.2)" Site 179 /site_type="phosphorylation" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine. {ECO:0000244|PubMed:24275569}; propagated from UniProtKB/Swiss-Prot (P10074.2)" Region 293..313 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(293,296,309,313) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(298,300,302,304..305,308..309,312,326,359,363..364, 367..368,371,385,387,389,391..392,395..396,400) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 305..328 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:316026" Region 321..372 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(321,324,368,372) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region <374 ..459="" cdd="" cddsrv.cgi="" db_xref="CDD:<a href=" https:="" note="Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]; COG5189" region_name="SFP1" tructure="" uid="227516" www.ncbi.nlm.nih.gov="">227516
- TZAP or not to zap telomeres. Lossaint G, et al. Science, 2017 Feb 10. PMID 28183935
- Human Krüppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene? Maris JM, et al. Eur J Cancer, 1997 Oct. PMID 9516840
- Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3. Maris JM, et al. Genomics, 1996 Jul 15. PMID 8661141
- 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. Sugawara M, et al. Mol Cell Biol, 1994 Dec. PMID 7969177, Free PMC Article
- ZBTB48 is both a vertebrate telomere-binding protein and a transcriptional activator. Jahn A, et al. EMBO Rep, 2017 Jun. PMID 28500257, Free PMC Article
GeneRIFs: Gene References Into Functions
- study demonstrate through a combination of RNAseq, ChIPseq and expression proteomics experiments that ZBTB48 acts as a transcriptional activator on a small set of target genes, including mitochondrial fission process 1 (MTFP1). This discovery places ZBTB48 at the interface of telomere length regulation, transcriptional control and mitochondrial metabolism
- this study describes a specific telomere-associated protein: TZAP (telomeric zinc finger-associated protein). Binding of TZAP to long telomeres represents the switch that triggers telomere trimming, setting the upper limit of telomere length.
- HKR3 potently activated the transcription of the tumor suppressor gene ARF by acting on the proximal promoter region (bp, -149 approximately +53), which contains Sp1 and FBI-1 binding elements (FREs).
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