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Protein

Zinc finger and BTB domain-containing protein 20

Gene

ZBTB20

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses.1 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

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000181722-MONOMER.

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

HGNCiHGNC:13503. ZBTB20.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs483353064dbSNPEnsembl.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 rs483353066dbSNPEnsembl.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 rs483353068dbSNPEnsembl.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 rs483353070dbSNPEnsembl.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)Combined sources
Cross-linki330Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei353PhosphoserineCombined sources1
Modified residuei357PhosphothreonineBy similarity1
Modified residuei690PhosphothreonineBy similarity1
Modified residuei695PhosphothreonineBy similarity1

Post-translational modificationi

Sumoylated with SUMO1.By similarity

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9HC78.
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.
MINTiMINT-2823546.
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

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
Contains 5 C2H2-type zinc fingers.PROSITE-ProRule annotation

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.
OMAiTLMGNIH.
OrthoDBiEOG091G02AP.
PhylomeDBiQ9HC78.
TreeFamiTF335684.

Family and domain databases

Gene3Di3.30.160.60. 4 hits.
InterProiIPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00651. BTB. 1 hit.
PF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTiSM00225. BTB. 1 hit.
SM00355. ZnF_C2H2. 5 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 5 hits.
PS50157. ZINC_FINGER_C2H2_2. 5 hits.
[Graphical view]

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 rs483353064dbSNPEnsembl.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 rs483353066dbSNPEnsembl.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 rs483353068dbSNPEnsembl.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 rs483353070dbSNPEnsembl.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_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

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.
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_056457.3. NM_015642.5. [Q9HC78-2]
UniGeneiHs.202577.
Hs.592414.
Hs.655108.
Hs.661491.
Hs.732516.
Hs.744879.

3D structure databases

ProteinModelPortaliQ9HC78.
SMRiQ9HC78.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117573. 15 interactors.
IntActiQ9HC78. 12 interactors.
MINTiMINT-2823546.
STRINGi9606.ENSP00000419153.

PTM databases

iPTMnetiQ9HC78.
PhosphoSitePlusiQ9HC78.

Polymorphism and mutation databases

BioMutaiZBTB20.
DMDMi172045933.

Proteomic databases

EPDiQ9HC78.
MaxQBiQ9HC78.
PaxDbiQ9HC78.
PeptideAtlasiQ9HC78.
PRIDEiQ9HC78.

Protocols and materials databases

DNASUi26137.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi26137.
DisGeNETi26137.
GeneCardsiZBTB20.
HGNCiHGNC:13503. ZBTB20.
HPAiHPA015551.
HPA016815.
MalaCardsiZBTB20.
MIMi259050. phenotype.
606025. gene.
neXtProtiNX_Q9HC78.
OpenTargetsiENSG00000181722.
Orphaneti3042. Intellectual disability - cataracts - calcified pinnae - myopathy.
PharmGKBiPA37789.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000181722-MONOMER.

Miscellaneous databases

ChiTaRSiZBTB20. human.
GeneWikiiZBTB20.
GenomeRNAii26137.
PROiQ9HC78.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181722.
CleanExiHS_ZBTB20.
ExpressionAtlasiQ9HC78. baseline and differential.
GenevisibleiQ9HC78. HS.

Family and domain databases

Gene3Di3.30.160.60. 4 hits.
InterProiIPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00651. BTB. 1 hit.
PF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTiSM00225. BTB. 1 hit.
SM00355. ZnF_C2H2. 5 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 5 hits.
PS50157. ZINC_FINGER_C2H2_2. 5 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZBT20_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 145 of the entry and version 3 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.