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Overview

Uniprot IDP10074
Protein NameZinc finger and BTB domain-containing protein 48
Gene NameZBTB48
OrganismHomo sapiens

Kla Sites from experimental identification

Position Flanking peptide
18 RVLQELNKQREKGQY

Function

Plays a critical role in transcriptional regulation and chromatin remodeling. Acts as a regulator of telomere length (PubMed:28082411, PubMed:28500257). Directly binds the telomeric double-stranded 5'-TTAGGG-3' repeat (PubMed:28082411, PubMed:28500257). Preferentially binds to telomeres that have a low concentration of shelterin complex and acts as a regulator of telomere length by initiating telomere trimming, a process that prevents the accumulation of aberrantly long telomeres (PubMed:28082411). Also acts as a transcription regulator that binds to promoter regions (PubMed:24382891, PubMed:28500257, PubMed:7969177). Regulates expression of a small subset of genes, including MTFP1 (PubMed:28500257). Acts as a negative regulator of cell proliferation by specifically activating expression of ARF, a tumor suppressor isoform of CDKN2A (PubMed:24382891). Acts as a transcription regulator of CIITA, the major factor regulating MHC class II gene expression (PubMed:39562739). In addition, regulates cellular m6A/m6Am methylation on RNA by facilitating the recruitment of the RNA demethylase, FTO, to target mRNAs (PubMed:39300486)

Protein Sequence

10 MDGSFVQHSV 20 RVLQELNKQR 30 EKGQYCDATL 40 DVGGLVFKAH 50 WSVLACCSHF 60 FQSLYGDGSG 70 GSVVLPAGFA 80 EIFGLLLDFF 90 YTGHLALTSG 100 NRDQVLLAAR 110 ELRVPEAVEL 120 CQSFKPKTSV 130 GQAAGGQSGL 140 GPPASQNVNS 150 HVKEPAGLEE 160 EEVSRTLGLV 170 PRDQEPRGSH 180 SPQRPQLHSP 190 AQSEGPSSLC 200 GKLKQALKPC 210 PLEDKKPEDC 220 KVPPRPLEAE 230 GAQLQGGSNE 240 WEVVVQVEDD 250 GDGDYMSEPE 260 AVLTRRKSNV 270 IRKPCAAEPA 280 LSAGSLAAEP 290 AENRKGTAVP 300 VECPTCHKKF 310 LSKYYLKVHN 320 RKHTGEKPFE 330 CPKCGKCYFR 340 KENLLEHEAR 350 NCMNRSEQVF 360 TCSVCQETFR 370 RRMELRVHMV 380 SHTGEMPYKC 390 SSCSQQFMQK 400 KDLQSHMIKL 410 HGAPKPHACP 420 TCAKCFLSRT 430 ELQLHEAFKH 440 RGEKLFVCEE 450 CGHRASSRNG 460 LQMHIKAKHR 470 NERPHVCEFC 480 SHAFTQKANL 490 NMHLRTHTGE 500 KPFQCHLCGK 510 TFRTQASLDK 520 HNRTHTGERP 530 FSCEFCEQRF 540 TEKGPLLRHV 550 ASRHQEGRPH 560 FCQICGKTFK 570 AVEQLRVHVR 580 RHKGVRKFEC 590 TECGYKFTRQ 600 AHLRRHMEIH 610 DRVENYNPRQ 620 RKLRNLIIED 630 EKMVVVALQP 640 PAELEVGSAE 650 VIVESLAQGG 660 LASQLPGQRL 670 CAEESFTGPG 680 VLEPSLIITA AVPEDCDT

Gene Ontology

Classification GO ID Description
Cellular Component GO:0000781 chromosome, telomeric region
Cellular Component GO:0005654 nucleoplasm
Molecular Function GO:0003700 DNA-binding transcription factor activity
Molecular Function GO:0003691 double-stranded telomeric DNA binding
Molecular Function GO:0042802 identical protein binding
Molecular Function GO:0003723 RNA binding
Molecular Function GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
Molecular Function GO:0000976 transcription cis-regulatory region binding
Molecular Function GO:0008270 zinc ion binding
Biological Process GO:0006351 DNA-templated transcription
Biological Process GO:0045893 positive regulation of DNA-templated transcription
Biological Process GO:0051252 regulation of RNA metabolic process
Biological Process GO:0006357 regulation of transcription by RNA polymerase II
Biological Process GO:0010833 telomere maintenance via telomere lengthening

Reference

[1] He C, Zhang J, Bai X, Lu C, Zhang K. Lysine lactylation-based insight to understanding the characterization of cervical cancer.. Biochim Biophys Acta Mol Basis Dis 1870(7):167356. 2024 Oct. PMID: 39025375.