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Ask your administrator if you think this is wrong. ======= ZBTB48 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: ZBTB48 * **<color #00a2e8>Official Name</color>**: zinc finger and BTB domain containing 48 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3104|3104]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P10074|P10074]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ZBTB48&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ZBTB48|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/165270|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: N/A * **<color #00a2e8>UniProt Summary</color>**: Telomere-binding protein that acts as a regulator of telomere length (PubMed:28500257, PubMed:28082411). Directly binds the telomeric double-stranded 5'-TTAGGG-3' repeat (PubMed:28500257, PubMed:28082411). 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:7969177, PubMed:24382891, PubMed:28500257). Regulates expression of a small subset of genes, including MTFP1 (PubMed:28500257). Regulates expression the J and/or S elements in MHC II promoter (PubMed:7969177). Acts as a negative regulator of cell proliferation by specifically activating expression of ARF, a tumor suppressor isoform of CDKN2A (PubMed:24382891). {ECO:0000269|PubMed:24382891, ECO:0000269|PubMed:28082411, ECO:0000269|PubMed:28500257, ECO:0000269|PubMed:7969177}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |BTB| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |double-stranded telomeric DNA binding| |telomere maintenance via telomere lengthening| |chromosome, telomeric region| |telomere maintenance| |telomere organization| |transcription regulatory region DNA binding| |anatomical structure homeostasis| |DNA-binding transcription factor activity| |DNA metabolic process| |chromosome organization| |identical protein binding| |positive regulation of transcription, DNA-templated| |DNA-binding transcription factor activity, RNA polymerase II-specific| |positive regulation of nucleic acid-templated transcription| |positive regulation of RNA biosynthetic process| |homeostatic process| |positive regulation of RNA metabolic process| |positive regulation of nucleobase-containing compound metabolic process| |positive regulation of macromolecule biosynthetic process| |positive regulation of cellular biosynthetic process| |positive regulation of gene expression| |positive regulation of biosynthetic process| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp269|Bisphenol A 100μM R06 exp269]]|-2.73| |[[:results:exp111|R-DABN 8μM R03 exp111]]|-2.22| |[[:results:exp11|CCCP 1μM R00 exp11]]|-2.07| |[[:results:exp524|Staurosporine 0.02μM R08 exp524]]|1.74| |[[:results:exp435|JQ1 0.8μM R08 exp435]]|1.76| |[[:results:exp90|WYE-354 6μM R02 exp90]]|2.07| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 14473 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.26 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='ZBTB48 Expression in NALM6 Cells: 5.26'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1