UniProtKB - Q9HC78 (ZBT20_HUMAN)
Zinc finger and BTB domain-containing protein 20
ZBTB20
Functioni
May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses (PubMed:11352661).
Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity).
By similarity1 PublicationRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 578 – 600 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 606 – 628 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 634 – 656 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 662 – 684 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 715 – 737 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 |
GO - Molecular functioni
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: GO_Central
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
- transcription cis-regulatory region binding Source: UniProtKB
GO - Biological processi
- cellular response to glucose stimulus Source: UniProtKB
- lipid homeostasis Source: UniProtKB
- negative regulation of gene expression Source: Ensembl
- positive regulation of glycolytic process Source: UniProtKB
- positive regulation of interferon-beta production Source: Ensembl
- positive regulation of interleukin-6 production Source: Ensembl
- positive regulation of lipid biosynthetic process Source: UniProtKB
- positive regulation of tumor necrosis factor production Source: Ensembl
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9HC78 |
SignaLinki | Q9HC78 |
SIGNORi | Q9HC78 |
Names & Taxonomyi
Protein namesi | Recommended name: Zinc finger and BTB domain-containing protein 20Alternative name(s): Dendritic-derived BTB/POZ zinc finger protein Zinc finger protein 288 |
Gene namesi | Name:ZBTB20 Synonyms:DPZF, ZNF288 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:13503, ZBTB20 |
MIMi | 606025, gene |
neXtProti | NX_Q9HC78 |
VEuPathDBi | HostDB:ENSG00000181722 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Nucleus
- nuclear body Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Primrose syndrome (PRIMS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072583 | 590 | K → Q in PRIMS; does not affect subcellular location; strongly reduced DNA binding; reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353064EnsemblClinVar. | 1 | |
Natural variantiVAR_072584 | 596 | H → R in PRIMS; strongly reduced DNA binding; strongly reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353066EnsemblClinVar. | 1 | |
Natural variantiVAR_072585 | 602 | G → A in PRIMS; strongly reduced DNA binding; strongly reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353068EnsemblClinVar. | 1 | |
Natural variantiVAR_072586 | 621 | L → F in PRIMS; strongly reduced DNA binding; reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353070EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 26137 |
GeneReviewsi | ZBTB20 |
MalaCardsi | ZBTB20 |
MIMi | 259050, phenotype |
OpenTargetsi | ENSG00000181722 |
Orphaneti | 3042, Intellectual disability-cataracts-calcified pinnae-myopathy syndrome |
PharmGKBi | PA37789 |
Miscellaneous databases
Pharosi | Q9HC78, Tbio |
Genetic variation databases
BioMutai | ZBTB20 |
DMDMi | 172045933 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000047733 | 1 – 741 | Zinc finger and BTB domain-containing protein 20Add BLAST | 741 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 211 | PhosphothreonineCombined sources | 1 | |
Cross-linki | 330 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 330 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Modified residuei | 353 | PhosphoserineCombined sources | 1 | |
Modified residuei | 357 | PhosphothreonineBy similarity | 1 | |
Cross-linki | 371 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 690 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 695 | PhosphothreonineBy similarity | 1 | |
Cross-linki | 723 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9HC78 |
jPOSTi | Q9HC78 |
MassIVEi | Q9HC78 |
MaxQBi | Q9HC78 |
PaxDbi | Q9HC78 |
PeptideAtlasi | Q9HC78 |
PRIDEi | Q9HC78 |
ProteomicsDBi | 81647 [Q9HC78-1] 81648 [Q9HC78-2] |
PTM databases
GlyGeni | Q9HC78, 4 sites, 2 O-linked glycans (4 sites) |
iPTMneti | Q9HC78 |
PhosphoSitePlusi | Q9HC78 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000181722, Expressed in pituitary gland and 254 other tissues |
ExpressionAtlasi | Q9HC78, baseline and differential |
Genevisiblei | Q9HC78, HS |
Organism-specific databases
HPAi | ENSG00000181722, Tissue enriched (brain) |
Interactioni
Subunit structurei
Can homodimerize. Binds to DNA.
Protein-protein interaction databases
BioGRIDi | 117573, 51 interactors |
IntActi | Q9HC78, 15 interactors |
STRINGi | 9606.ENSP00000419153 |
Miscellaneous databases
RNActi | Q9HC78, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 104 – 167 | BTBPROSITE-ProRule annotationAdd BLAST | 64 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 32 | DisorderedSequence analysisAdd BLAST | 32 | |
Regioni | 203 – 235 | DisorderedSequence analysisAdd BLAST | 33 | |
Regioni | 350 – 440 | DisorderedSequence analysisAdd BLAST | 91 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1 – 15 | Basic and acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 208 – 235 | Polar residuesSequence analysisAdd BLAST | 28 | |
Compositional biasi | 373 – 389 | Polar residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 421 – 440 | Polar residuesSequence analysisAdd BLAST | 20 |
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 578 – 600 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 606 – 628 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 634 – 656 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 662 – 684 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 715 – 737 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000158617 |
HOGENOMi | CLU_019055_0_0_1 |
InParanoidi | Q9HC78 |
OMAi | EQQFMAG |
OrthoDBi | 1318335at2759 |
PhylomeDBi | Q9HC78 |
TreeFami | TF335684 |
Family and domain databases
Gene3Di | 3.30.710.10, 1 hit |
InterProi | View protein in InterPro IPR000210, BTB/POZ_dom IPR011333, SKP1/BTB/POZ_sf IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF00651, BTB, 1 hit PF00096, zf-C2H2, 5 hits |
SMARTi | View protein in SMART SM00225, BTB, 1 hit SM00355, ZnF_C2H2, 5 hits |
SUPFAMi | SSF54695, SSF54695, 1 hit SSF57667, SSF57667, 2 hits |
PROSITEi | View protein in PROSITE PS50097, BTB, 1 hit PS00028, ZINC_FINGER_C2H2_1, 5 hits PS50157, ZINC_FINGER_C2H2_2, 5 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MLERKKPKTA ENQKASEENE ITQPGGSSAK PGLPCLNFEA VLSPDPALIH
60 70 80 90 100
STHSLTNSHA HTGSSDCDIS CKGMTERIHS INLHNFSNSV LETLNEQRNR
110 120 130 140 150
GHFCDVTVRI HGSMLRAHRC VLAAGSPFFQ DKLLLGYSDI EIPSVVSVQS
160 170 180 190 200
VQKLIDFMYS GVLRVSQSEA LQILTAASIL QIKTVIDECT RIVSQNVGDV
210 220 230 240 250
FPGIQDSGQD TPRGTPESGT SGQSSDTESG YLQSHPQHSV DRIYSALYAC
260 270 280 290 300
SMQNGSGERS FYSGAVVSHH ETALGLPRDH HMEDPSWITR IHERSQQMER
310 320 330 340 350
YLSTTPETTH CRKQPRPVRI QTLVGNIHIK QEMEDDYDYY GQQRVQILER
360 370 380 390 400
NESEECTEDT DQAEGTESEP KGESFDSGVS SSIGTEPDSV EQQFGPGAAR
410 420 430 440 450
DSQAEPTQPE QAAEAPAEGG PQTNQLETGA SSPERSNEVE MDSTVITVSN
460 470 480 490 500
SSDKSVLQQP SVNTSIGQPL PSTQLYLRQT ETLTSNLRMP LTLTSNTQVI
510 520 530 540 550
GTAGNTYLPA LFTTQPAGSG PKPFLFSLPQ PLAGQQTQFV TVSQPGLSTF
560 570 580 590 600
TAQLPAPQPL ASSAGHSTAS GQGEKKPYEC TLCNKTFTAK QNYVKHMFVH
610 620 630 640 650
TGEKPHQCSI CWRSFSLKDY LIKHMVTHTG VRAYQCSICN KRFTQKSSLN
660 670 680 690 700
VHMRLHRGEK SYECYICKKK FSHKTLLERH VALHSASNGT PPAGTPPGAR
710 720 730 740
AGPPGVVACT EGTTYVCSVC PAKFDQIEQF NDHMRMHVSD G
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JCX0 | C9JCX0_HUMAN | Zinc finger and BTB domain-containi... | ZBTB20 | 57 | Annotation score: | ||
C9JUH0 | C9JUH0_HUMAN | Zinc finger and BTB domain-containi... | ZBTB20 | 19 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 224 | S → G in AAG28340 (PubMed:11352661).Curated | 1 | |
Sequence conflicti | 266 | V → M in AAG28340 (PubMed:11352661).Curated | 1 | |
Sequence conflicti | 332 | E → G in CAH56190 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 337 | Y → F in AAG28340 (PubMed:11352661).Curated | 1 | |
Sequence conflicti | 465 | S → F in AAG28340 (PubMed:11352661).Curated | 1 | |
Sequence conflicti | 517 | A → V in AAG28340 (PubMed:11352661).Curated | 1 | |
Sequence conflicti | 543 | S → F in AAH29041 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072583 | 590 | K → Q in PRIMS; does not affect subcellular location; strongly reduced DNA binding; reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353064EnsemblClinVar. | 1 | |
Natural variantiVAR_072584 | 596 | H → R in PRIMS; strongly reduced DNA binding; strongly reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353066EnsemblClinVar. | 1 | |
Natural variantiVAR_072585 | 602 | G → A in PRIMS; strongly reduced DNA binding; strongly reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353068EnsemblClinVar. | 1 | |
Natural variantiVAR_072586 | 621 | L → F in PRIMS; strongly reduced DNA binding; reduced ability to repress transcription; dominant-negative effect of the mutant on the wild-type allele. 1 PublicationCorresponds to variant dbSNP:rs483353070EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_032503 | 1 – 73 | Missing in isoform 2. 3 PublicationsAdd BLAST | 73 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF139460 mRNA Translation: AAG28340.2 AL050276 mRNA Translation: CAB43377.1 BX647778 mRNA Translation: CAH56190.1 CH471052 Genomic DNA Translation: EAW79598.1 BC029041 mRNA Translation: AAH29041.1 |
CCDSi | CCDS2981.1 [Q9HC78-2] CCDS54626.1 [Q9HC78-1] |
PIRi | T08725 |
RefSeqi | NP_001157814.1, NM_001164342.2 [Q9HC78-1] NP_001157815.1, NM_001164343.2 [Q9HC78-2] NP_001157816.1, NM_001164344.2 [Q9HC78-2] NP_001157817.1, NM_001164345.2 [Q9HC78-2] NP_001157818.1, NM_001164346.2 [Q9HC78-2] NP_001157819.1, NM_001164347.2 [Q9HC78-2] NP_001335729.1, NM_001348800.1 [Q9HC78-1] NP_001335731.1, NM_001348802.1 [Q9HC78-2] NP_001335732.1, NM_001348803.1 [Q9HC78-1] NP_001335733.1, NM_001348804.1 [Q9HC78-2] NP_001335734.1, NM_001348805.1 [Q9HC78-2] NP_056457.3, NM_015642.5 [Q9HC78-2] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF139460 mRNA Translation: AAG28340.2 AL050276 mRNA Translation: CAB43377.1 BX647778 mRNA Translation: CAH56190.1 CH471052 Genomic DNA Translation: EAW79598.1 BC029041 mRNA Translation: AAH29041.1 |
CCDSi | CCDS2981.1 [Q9HC78-2] CCDS54626.1 [Q9HC78-1] |
PIRi | T08725 |
RefSeqi | NP_001157814.1, NM_001164342.2 [Q9HC78-1] NP_001157815.1, NM_001164343.2 [Q9HC78-2] NP_001157816.1, NM_001164344.2 [Q9HC78-2] NP_001157817.1, NM_001164345.2 [Q9HC78-2] NP_001157818.1, NM_001164346.2 [Q9HC78-2] NP_001157819.1, NM_001164347.2 [Q9HC78-2] NP_001335729.1, NM_001348800.1 [Q9HC78-1] NP_001335731.1, NM_001348802.1 [Q9HC78-2] NP_001335732.1, NM_001348803.1 [Q9HC78-1] NP_001335733.1, NM_001348804.1 [Q9HC78-2] NP_001335734.1, NM_001348805.1 [Q9HC78-2] NP_056457.3, NM_015642.5 [Q9HC78-2] |
3D structure databases
AlphaFoldDBi | Q9HC78 |
SMRi | Q9HC78 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 117573, 51 interactors |
IntActi | Q9HC78, 15 interactors |
STRINGi | 9606.ENSP00000419153 |
PTM databases
GlyGeni | Q9HC78, 4 sites, 2 O-linked glycans (4 sites) |
iPTMneti | Q9HC78 |
PhosphoSitePlusi | Q9HC78 |
Genetic variation databases
BioMutai | ZBTB20 |
DMDMi | 172045933 |
Proteomic databases
EPDi | Q9HC78 |
jPOSTi | Q9HC78 |
MassIVEi | Q9HC78 |
MaxQBi | Q9HC78 |
PaxDbi | Q9HC78 |
PeptideAtlasi | Q9HC78 |
PRIDEi | Q9HC78 |
ProteomicsDBi | 81647 [Q9HC78-1] 81648 [Q9HC78-2] |
Protocols and materials databases
Antibodypediai | 16495, 160 antibodies from 25 providers |
DNASUi | 26137 |
Genome annotation databases
Organism-specific databases
CTDi | 26137 |
DisGeNETi | 26137 |
GeneCardsi | ZBTB20 |
GeneReviewsi | ZBTB20 |
HGNCi | HGNC:13503, ZBTB20 |
HPAi | ENSG00000181722, Tissue enriched (brain) |
MalaCardsi | ZBTB20 |
MIMi | 259050, phenotype 606025, gene |
neXtProti | NX_Q9HC78 |
OpenTargetsi | ENSG00000181722 |
Orphaneti | 3042, Intellectual disability-cataracts-calcified pinnae-myopathy syndrome |
PharmGKBi | PA37789 |
VEuPathDBi | HostDB:ENSG00000181722 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000158617 |
HOGENOMi | CLU_019055_0_0_1 |
InParanoidi | Q9HC78 |
OMAi | EQQFMAG |
OrthoDBi | 1318335at2759 |
PhylomeDBi | Q9HC78 |
TreeFami | TF335684 |
Enzyme and pathway databases
PathwayCommonsi | Q9HC78 |
SignaLinki | Q9HC78 |
SIGNORi | Q9HC78 |
Miscellaneous databases
BioGRID-ORCSi | 26137, 17 hits in 1134 CRISPR screens |
ChiTaRSi | ZBTB20, human |
GeneWikii | ZBTB20 |
GenomeRNAii | 26137 |
Pharosi | Q9HC78, Tbio |
PROi | PR:Q9HC78 |
RNActi | Q9HC78, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000181722, Expressed in pituitary gland and 254 other tissues |
ExpressionAtlasi | Q9HC78, baseline and differential |
Genevisiblei | Q9HC78, HS |
Family and domain databases
Gene3Di | 3.30.710.10, 1 hit |
InterProi | View protein in InterPro IPR000210, BTB/POZ_dom IPR011333, SKP1/BTB/POZ_sf IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF00651, BTB, 1 hit PF00096, zf-C2H2, 5 hits |
SMARTi | View protein in SMART SM00225, BTB, 1 hit SM00355, ZnF_C2H2, 5 hits |
SUPFAMi | SSF54695, SSF54695, 1 hit SSF57667, SSF57667, 2 hits |
PROSITEi | View protein in PROSITE PS50097, BTB, 1 hit PS00028, ZINC_FINGER_C2H2_1, 5 hits PS50157, ZINC_FINGER_C2H2_2, 5 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | ZBT20_HUMAN | |
Accessioni | Q9HC78Primary (citable) accession number: Q9HC78 Secondary accession number(s): Q63HP6, Q8N6R5, Q9Y410 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 26, 2001 |
Last sequence update: | March 18, 2008 | |
Last modified: | May 25, 2022 | |
This is version 183 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot