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Protein

Zinc finger and BTB domain-containing protein 20

Gene

ZBTB20

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri578 – 600C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri606 – 628C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri634 – 656C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri662 – 684C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri715 – 737C2H2-type 5PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger and BTB domain-containing protein 20
Alternative name(s):
Dendritic-derived BTB/POZ zinc finger protein
Zinc finger protein 288
Gene namesi
Name:ZBTB20
Synonyms:DPZF, ZNF288
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000181722.15
HGNCiHGNC:13503 ZBTB20
MIMi606025 gene
neXtProtiNX_Q9HC78

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Primrose syndrome (PRIMS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by macrocephaly, intellectual disability, disturbed behavior, dysmorphic facial features, ectopic calcifications, large calcified ear auricles, and progressive muscle wasting.
See also OMIM:259050
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072583590K → 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_072584596H → 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_072585602G → 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_072586621L → 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 mutation, Mental retardation

Organism-specific databases

DisGeNETi26137
MalaCardsiZBTB20
MIMi259050 phenotype
OpenTargetsiENSG00000181722
Orphaneti3042 Intellectual disability - cataracts - calcified pinnae - myopathy
PharmGKBiPA37789

Polymorphism and mutation databases

BioMutaiZBTB20
DMDMi172045933

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000477331 – 741Zinc finger and BTB domain-containing protein 20Add BLAST741

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei211PhosphothreonineCombined sources1
Cross-linki330Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki330Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei353PhosphoserineCombined sources1
Modified residuei357PhosphothreonineBy similarity1
Cross-linki371Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei690PhosphothreonineBy similarity1
Modified residuei695PhosphothreonineBy similarity1
Cross-linki723Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Post-translational modificationi

Sumoylated with SUMO1.By similarity

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ9HC78
PaxDbiQ9HC78
PeptideAtlasiQ9HC78
PRIDEiQ9HC78

PTM databases

iPTMnetiQ9HC78
PhosphoSitePlusiQ9HC78

Expressioni

Tissue specificityi

Expressed in spleen, lymph node, thymus, peripheral blood leukocytes, and fetal liver.1 Publication

Gene expression databases

BgeeiENSG00000181722
CleanExiHS_ZBTB20
ExpressionAtlasiQ9HC78 baseline and differential
GenevisibleiQ9HC78 HS

Organism-specific databases

HPAiHPA015551
HPA016815

Interactioni

Subunit structurei

Can homodimerize. Binds to DNA.

Protein-protein interaction databases

BioGridi117573, 15 interactors
IntActiQ9HC78, 12 interactors
STRINGi9606.ENSP00000419153

Structurei

3D structure databases

ProteinModelPortaliQ9HC78
SMRiQ9HC78
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini104 – 167BTBPROSITE-ProRule annotationAdd BLAST64

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri578 – 600C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri606 – 628C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri634 – 656C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri662 – 684C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri715 – 737C2H2-type 5PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00760000119063
HOGENOMiHOG000136747
HOVERGENiHBG060183
InParanoidiQ9HC78
KOiK10501
OMAiQIEHFND
OrthoDBiEOG091G02AP
PhylomeDBiQ9HC78
TreeFamiTF335684

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00651 BTB, 1 hit
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SM00355 ZnF_C2H2, 5 hits
SUPFAMiSSF54695 SSF54695, 1 hit
SSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 5 hits
PS50157 ZINC_FINGER_C2H2_2, 5 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9HC78-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:741
Mass (Da):81,083
Last modified:March 18, 2008 - v3
Checksum:i913DDA9E6771C1EF
GO
Isoform 2 (identifier: Q9HC78-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Show »
Length:668
Mass (Da):73,401
Checksum:iF280249454E57C62
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti224S → G in AAG28340 (PubMed:11352661).Curated1
Sequence conflicti266V → M in AAG28340 (PubMed:11352661).Curated1
Sequence conflicti332E → G in CAH56190 (PubMed:17974005).Curated1
Sequence conflicti337Y → F in AAG28340 (PubMed:11352661).Curated1
Sequence conflicti465S → F in AAG28340 (PubMed:11352661).Curated1
Sequence conflicti517A → V in AAG28340 (PubMed:11352661).Curated1
Sequence conflicti543S → F in AAH29041 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072583590K → 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_072584596H → 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_072585602G → 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_072586621L → 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 keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0325031 – 73Missing in isoform 2. 3 PublicationsAdd BLAST73

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
CCDSiCCDS2981.1 [Q9HC78-2]
CCDS54626.1 [Q9HC78-1]
PIRiT08725
RefSeqiNP_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]
UniGeneiHs.202577
Hs.592414
Hs.655108
Hs.661491
Hs.732516
Hs.744879

Genome annotation databases

EnsembliENST00000357258; ENSP00000349803; ENSG00000181722 [Q9HC78-2]
ENST00000393785; ENSP00000377375; ENSG00000181722 [Q9HC78-2]
ENST00000462705; ENSP00000420324; ENSG00000181722 [Q9HC78-2]
ENST00000464560; ENSP00000417307; ENSG00000181722 [Q9HC78-2]
ENST00000471418; ENSP00000419902; ENSG00000181722 [Q9HC78-2]
ENST00000474710; ENSP00000419153; ENSG00000181722 [Q9HC78-1]
ENST00000481632; ENSP00000418092; ENSG00000181722 [Q9HC78-2]
GeneIDi26137
KEGGihsa:26137
UCSCiuc003ebi.5 human [Q9HC78-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiZBT20_HUMAN
AccessioniPrimary (citable) accession number: Q9HC78
Secondary accession number(s): Q63HP6, Q8N6R5, Q9Y410
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: March 18, 2008
Last modified: May 23, 2018
This is version 157 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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