UniProtKB - O95625 (ZBT11_HUMAN)
Protein
Zinc finger and BTB domain-containing protein 11
Gene
ZBTB11
Organism
Homo sapiens (Human)
Status
Functioni
May be involved in transcriptional regulation.Curated
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 569 – 591 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 597 – 619 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 651 – 673 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 679 – 701 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 707 – 729 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 735 – 757 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 766 – 788 | C2H2-type 7PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 794 – 816 | C2H2-type 8PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 822 – 846 | C2H2-type 9PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 858 – 880 | C2H2-type 10PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 886 – 908 | C2H2-type 11PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 914 – 937 | C2H2-type 12PROSITE-ProRule annotationAdd BLAST | 24 |
GO - Molecular functioni
- DNA-binding transcription factor 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
GO - Biological processi
- regulation of transcription, DNA-templated Source: GO_Central
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | O95625 |
Names & Taxonomyi
Protein namesi | Recommended name: Zinc finger and BTB domain-containing protein 11Curated |
Gene namesi | |
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:16740, ZBTB11 |
MIMi | 618181, gene |
neXtProti | NX_O95625 |
VEuPathDBi | HostDB:ENSG00000066422.4 |
Subcellular locationi
Nucleus
- nucleolus 1 Publication
Nucleus
- nucleolus Source: UniProtKB-SubCell
- nucleoplasm Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Intellectual developmental disorder, autosomal recessive 69 (MRT69)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082098 | 729 | H → Y in MRT69; impaired localization to the nucleolus. 1 PublicationCorresponds to variant dbSNP:rs1559982532EnsemblClinVar. | 1 | |
Natural variantiVAR_080760 | 880 | H → Q in MRT69; impaired localization to the nucleolus. 2 PublicationsCorresponds to variant dbSNP:rs1559981249EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 27107 |
MalaCardsi | ZBTB11 |
MIMi | 618383, phenotype |
OpenTargetsi | ENSG00000066422 |
PharmGKBi | PA134907354 |
Miscellaneous databases
Pharosi | O95625, Tdark |
Genetic variation databases
BioMutai | ZBTB11 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000047727 | 1 – 1053 | Zinc finger and BTB domain-containing protein 11Add BLAST | 1053 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 1043 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 1050 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | O95625 |
jPOSTi | O95625 |
MassIVEi | O95625 |
MaxQBi | O95625 |
PaxDbi | O95625 |
PeptideAtlasi | O95625 |
PRIDEi | O95625 |
ProteomicsDBi | 50956 |
PTM databases
iPTMneti | O95625 |
PhosphoSitePlusi | O95625 |
Expressioni
Gene expression databases
Bgeei | ENSG00000066422, Expressed in sperm and 246 other tissues |
ExpressionAtlasi | O95625, baseline and differential |
Genevisiblei | O95625, HS |
Organism-specific databases
HPAi | ENSG00000066422, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 118005, 30 interactors |
IntActi | O95625, 15 interactors |
MINTi | O95625 |
STRINGi | 9606.ENSP00000326200 |
Miscellaneous databases
RNActi | O95625, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 214 – 282 | BTBPROSITE-ProRule annotationAdd BLAST | 69 |
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 569 – 591 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 597 – 619 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 651 – 673 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 679 – 701 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 707 – 729 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 735 – 757 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 766 – 788 | C2H2-type 7PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 794 – 816 | C2H2-type 8PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 822 – 846 | C2H2-type 9PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 858 – 880 | C2H2-type 10PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 886 – 908 | C2H2-type 11PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 914 – 937 | C2H2-type 12PROSITE-ProRule annotationAdd BLAST | 24 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00900000141090 |
HOGENOMi | CLU_010706_0_0_1 |
InParanoidi | O95625 |
OMAi | HSLKMHR |
OrthoDBi | 1318335at2759 |
PhylomeDBi | O95625 |
TreeFami | TF332263 |
Family and domain databases
InterProi | View protein in InterPro IPR000210, BTB/POZ_dom IPR041588, Integrase_H2C2 IPR011333, SKP1/BTB/POZ_sf IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF00651, BTB, 1 hit PF17921, Integrase_H2C2, 1 hit PF00096, zf-C2H2, 4 hits |
SMARTi | View protein in SMART SM00225, BTB, 1 hit SM00355, ZnF_C2H2, 12 hits |
SUPFAMi | SSF54695, SSF54695, 1 hit SSF57667, SSF57667, 6 hits |
PROSITEi | View protein in PROSITE PS50097, BTB, 1 hit PS00028, ZINC_FINGER_C2H2_1, 12 hits PS50157, ZINC_FINGER_C2H2_2, 12 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
O95625-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MSSEESYRAI LRYLTNEREP YAPGTEGNVK RKIRKAAACY VVRGGTLYYQ
60 70 80 90 100
RRQRHRKTFA ELEVVLQPER RRDLIEAAHL GPGGTHHTRH QTWHYLSKTY
110 120 130 140 150
WWRGILKQVK DYIKQCSKCQ EKLDRSRPIS DVSEMLEELG LDLESGEESN
160 170 180 190 200
ESEDDLSNFT SSPTTASKPA KKKPVSKHEL VFVDTKGVVK RSSPKHCQAV
210 220 230 240 250
LKQLNEQRLS NQFCDVTLLI EGEEYKAHKS VLSANSEYFR DLFIEKGAVS
260 270 280 290 300
SHEAVVDLSG FCKASFLPLL EFAYTSVLSF DFCSMADVAI LARHLFMSEV
310 320 330 340 350
LEICESVHKL MEEKQLTVYK KGEVQTVAST QDLRVQNGGT APPVASSEGT
360 370 380 390 400
TTSLPTELGD CEIVLLVNGE LPEAEQNGEV GRQPEPQVSS EAESALSSVG
410 420 430 440 450
CIADSHPEME SVDLITKNNQ TELETSNNRE NNTVSNIHPK LSKENVISSS
460 470 480 490 500
PEDSGMGNDI SAEDICAEDI PKHRQKVDQP LKDQENLVAS TAKTDFGPDD
510 520 530 540 550
DTYRSRLRQR SVNEGAYIRL HKGMEKKLQK RKAVPKSAVQ QVAQKLVQRG
560 570 580 590 600
KKMKQPKRDA KENTEEASHK CGECGMVFQR RYALIMHKLK HERARDYKCP
610 620 630 640 650
LCKKQFQYSA SLRAHLIRHT RKDAPSSSSS NSTSNEASGT SSEKGRTKRE
660 670 680 690 700
FICSICGRTL PKLYSLRIHM LKHTGVKPHA CQVCGKTFIY KHGLKLHQSL
710 720 730 740 750
HQSQKQFQCE LCVKSFVTKR SLQEHMSIHT GESKYLCSVC GKSFHRGSGL
760 770 780 790 800
SKHFKKHQPK PEVRGYHCTQ CEKSFFEARD LRQHMNKHLG VKPFQCQFCD
810 820 830 840 850
KCYSWKKDWY SHVKSHSVTE PYRCNICGKE FYEKALFRRH VKKATHGKKG
860 870 880 890 900
RAKQNLERVC EKCGRKFTQL REYRRHMNNH EGVKPFECLT CGVAWADARS
910 920 930 940 950
LKRHVRTHTG ERPYVCPVCS EAYIDARTLR KHMTKFHRDY VPCKIMLEKD
960 970 980 990 1000
TLQFHNQGTQ VAHAVSILTA GMQEQESSGP QELETVVVTG ETMEALEAVA
1010 1020 1030 1040 1050
ATEEYPSVST LSDQSIMQVV NYVLAQQQGQ KLSEVAEAIQ TVKVEVAHIS
GGE
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketC9J2L2 | C9J2L2_HUMAN | Zinc finger and BTB domain-containi... | ZBTB11 | 215 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 495 | D → N in AAD00172 (Ref. 1) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021894 | 44 | G → S. Corresponds to variant dbSNP:rs3749323Ensembl. | 1 | |
Natural variantiVAR_047465 | 350 | T → N. Corresponds to variant dbSNP:rs33957144Ensembl. | 1 | |
Natural variantiVAR_082098 | 729 | H → Y in MRT69; impaired localization to the nucleolus. 1 PublicationCorresponds to variant dbSNP:rs1559982532EnsemblClinVar. | 1 | |
Natural variantiVAR_080760 | 880 | H → Q in MRT69; impaired localization to the nucleolus. 2 PublicationsCorresponds to variant dbSNP:rs1559981249EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U69274 mRNA Translation: AAD00172.1 AK312859 mRNA Translation: BAG35711.1 CH471052 Genomic DNA Translation: EAW79786.1 BC111700 mRNA Translation: AAI11701.1 |
CCDSi | CCDS2943.1 |
RefSeqi | NP_055230.2, NM_014415.3 |
Genome annotation databases
Ensembli | ENST00000312938; ENSP00000326200; ENSG00000066422 |
GeneIDi | 27107 |
KEGGi | hsa:27107 |
UCSCi | uc003dve.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U69274 mRNA Translation: AAD00172.1 AK312859 mRNA Translation: BAG35711.1 CH471052 Genomic DNA Translation: EAW79786.1 BC111700 mRNA Translation: AAI11701.1 |
CCDSi | CCDS2943.1 |
RefSeqi | NP_055230.2, NM_014415.3 |
3D structure databases
SMRi | O95625 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 118005, 30 interactors |
IntActi | O95625, 15 interactors |
MINTi | O95625 |
STRINGi | 9606.ENSP00000326200 |
PTM databases
iPTMneti | O95625 |
PhosphoSitePlusi | O95625 |
Genetic variation databases
BioMutai | ZBTB11 |
Proteomic databases
EPDi | O95625 |
jPOSTi | O95625 |
MassIVEi | O95625 |
MaxQBi | O95625 |
PaxDbi | O95625 |
PeptideAtlasi | O95625 |
PRIDEi | O95625 |
ProteomicsDBi | 50956 |
Protocols and materials databases
Antibodypediai | 15941, 114 antibodies |
Genome annotation databases
Ensembli | ENST00000312938; ENSP00000326200; ENSG00000066422 |
GeneIDi | 27107 |
KEGGi | hsa:27107 |
UCSCi | uc003dve.5, human |
Organism-specific databases
CTDi | 27107 |
DisGeNETi | 27107 |
GeneCardsi | ZBTB11 |
HGNCi | HGNC:16740, ZBTB11 |
HPAi | ENSG00000066422, Low tissue specificity |
MalaCardsi | ZBTB11 |
MIMi | 618181, gene 618383, phenotype |
neXtProti | NX_O95625 |
OpenTargetsi | ENSG00000066422 |
PharmGKBi | PA134907354 |
VEuPathDBi | HostDB:ENSG00000066422.4 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00900000141090 |
HOGENOMi | CLU_010706_0_0_1 |
InParanoidi | O95625 |
OMAi | HSLKMHR |
OrthoDBi | 1318335at2759 |
PhylomeDBi | O95625 |
TreeFami | TF332263 |
Enzyme and pathway databases
PathwayCommonsi | O95625 |
Miscellaneous databases
BioGRID-ORCSi | 27107, 622 hits in 1028 CRISPR screens |
GeneWikii | ZBTB11 |
GenomeRNAii | 27107 |
Pharosi | O95625, Tdark |
PROi | PR:O95625 |
RNActi | O95625, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000066422, Expressed in sperm and 246 other tissues |
ExpressionAtlasi | O95625, baseline and differential |
Genevisiblei | O95625, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000210, BTB/POZ_dom IPR041588, Integrase_H2C2 IPR011333, SKP1/BTB/POZ_sf IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF00651, BTB, 1 hit PF17921, Integrase_H2C2, 1 hit PF00096, zf-C2H2, 4 hits |
SMARTi | View protein in SMART SM00225, BTB, 1 hit SM00355, ZnF_C2H2, 12 hits |
SUPFAMi | SSF54695, SSF54695, 1 hit SSF57667, SSF57667, 6 hits |
PROSITEi | View protein in PROSITE PS50097, BTB, 1 hit PS00028, ZINC_FINGER_C2H2_1, 12 hits PS50157, ZINC_FINGER_C2H2_2, 12 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ZBT11_HUMAN | |
Accessioni | O95625Primary (citable) accession number: O95625 Secondary accession number(s): Q2NKP9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 16, 2004 |
Last sequence update: | November 25, 2008 | |
Last modified: | April 7, 2021 | |
This is version 168 of the entry and version 2 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