UniProtKB - Q9UIS9 (MBD1_HUMAN)
Methyl-CpG-binding domain protein 1
MBD1
Functioni
Caution
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 338 | ZincCombined sources1 Publication | 1 | |
Metal bindingi | 341 | ZincCombined sources1 Publication | 1 | |
Metal bindingi | 344 | ZincCombined sources1 Publication | 1 | |
Metal bindingi | 350 | ZincCombined sources1 Publication | 1 | |
Metal bindingi | 353 | ZincCombined sources1 Publication | 1 | |
Metal bindingi | 356 | ZincCombined sources1 Publication | 1 | |
Metal bindingi | 372 | ZincCombined sources1 Publication | 1 | |
Metal bindingi | 377 | ZincCombined sources1 Publication | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 169 – 216 | CXXC-type 1PROSITE-ProRule annotation1 PublicationAdd BLAST | 48 | |
Zinc fingeri | 217 – 263 | CXXC-type 2PROSITE-ProRule annotationAdd BLAST | 47 | |
Zinc fingeri | 330 – 378 | CXXC-type 3PROSITE-ProRule annotation1 PublicationAdd BLAST | 49 |
GO - Molecular functioni
- DNA binding Source: ProtInc
- double-stranded methylated DNA binding Source: MGI
- methyl-CpG binding Source: UniProtKB
- unmethylated CpG binding Source: UniProtKB
- zinc ion binding Source: UniProtKB
GO - Biological processi
- negative regulation of transcription, DNA-templated Source: UniProtKB
- transcription by RNA polymerase II Source: ProtInc
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9UIS9 |
Reactomei | R-HSA-3899300, SUMOylation of transcription cofactors |
SIGNORi | Q9UIS9 |
Names & Taxonomyi
Protein namesi | Recommended name: Methyl-CpG-binding domain protein 1CuratedAlternative name(s): CXXC-type zinc finger protein 3 Methyl-CpG-binding protein MBD1 Protein containing methyl-CpG-binding domain 1 |
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:6916, MBD1 |
MIMi | 156535, gene |
neXtProti | NX_Q9UIS9 |
VEuPathDBi | HostDB:ENSG00000141644.17 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
- Nucleus matrix 2 Publications
- Nucleus speckle 2 Publications
Other locations
- Chromosome 4 Publications
Note: Nuclear, in a punctate pattern (PubMed:12711603). Associated with euchromatic regions of the chromosomes, with pericentromeric regions on chromosome 1 and with telomeric regions from several chromosomes (PubMed:10648624, PubMed:10454587).3 Publications
Nucleus
- nuclear matrix Source: UniProtKB
- nuclear speck Source: UniProtKB
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB
Other locations
- chromosome Source: UniProtKB-SubCell
Keywords - Cellular componenti
Chromosome, NucleusPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 22 | R → A or K: Abolishes binding to methylated DNA. 2 Publications | 1 | |
Mutagenesisi | 30 | R → A: Strongly reduces binding to methylated DNA. 2 Publications | 1 | |
Mutagenesisi | 30 | R → K: No loss of binding to methylated DNA. 1 Publication | 1 | |
Mutagenesisi | 32 | D → A: Strongly reduces binding to methylated DNA. 2 Publications | 1 | |
Mutagenesisi | 34 | Y → A or F: Strongly reduces binding to methylated DNA. 2 Publications | 1 | |
Mutagenesisi | 44 | R → A or K: Abolishes binding to methylated DNA. 2 Publications | 1 | |
Mutagenesisi | 45 | S → A: Reduces binding to methylated DNA. 2 Publications | 1 | |
Mutagenesisi | 46 | K → A: Strongly reduces binding to methylated DNA. 1 Publication | 1 | |
Mutagenesisi | 52 | Y → A: No loss of binding to methylated DNA. 2 Publications | 1 | |
Mutagenesisi | 64 | F → A: Disrupts tertiary structure and abolishes DNA binding. 1 Publication | 1 | |
Mutagenesisi | 65 | K → A: Strongly reduces binding to methylated DNA. 1 Publication | 1 | |
Mutagenesisi | 576 | I → R: Abolishes interaction with AFT7IP and subsequent transcription repression activity. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 4152 |
OpenTargetsi | ENSG00000141644 |
PharmGKBi | PA30659 |
Miscellaneous databases
Pharosi | Q9UIS9, Tbio |
Genetic variation databases
BioMutai | MBD1 |
DMDMi | 50401200 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000096258 | 1 – 605 | Methyl-CpG-binding domain protein 1Add BLAST | 605 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 117 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 277 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 297 | PhosphoserineCombined sources | 1 | |
Modified residuei | 391 | PhosphoserineCombined sources | 1 | |
Modified residuei | 399 | PhosphoserineCombined sources | 1 | |
Cross-linki | 422 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 440 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 499 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Cross-linki | 538 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Cross-linki | 558 | 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 | Q9UIS9 |
jPOSTi | Q9UIS9 |
MassIVEi | Q9UIS9 |
PaxDbi | Q9UIS9 |
PeptideAtlasi | Q9UIS9 |
PRIDEi | Q9UIS9 |
ProteomicsDBi | 84560 [Q9UIS9-1] 84561 [Q9UIS9-2] 84562 [Q9UIS9-4] 84563 [Q9UIS9-5] 84564 [Q9UIS9-6] 84565 [Q9UIS9-7] 84566 [Q9UIS9-8] 84567 [Q9UIS9-9] |
PTM databases
iPTMneti | Q9UIS9 |
PhosphoSitePlusi | Q9UIS9 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000141644, Expressed in testis and 241 other tissues |
ExpressionAtlasi | Q9UIS9, baseline and differential |
Genevisiblei | Q9UIS9, HS |
Organism-specific databases
HPAi | ENSG00000141644, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with OASL, AFT7IP, AFT7IP2 and BAHD1 (PubMed:12665582, PubMed:14728690, PubMed:15691849, PubMed:16757475, PubMed:19666599). Binds CHAF1A and the SUV39H1-CBX5 complex via the MBD domain (PubMed:12697822, PubMed:12711603). Binds MGP via the TRD domain (PubMed:14555760). May be part of the MeCP1 complex (PubMed:9207790).
9 PublicationsBinary interactionsi
Hide detailsQ9UIS9
Protein-protein interaction databases
BioGRIDi | 110322, 38 interactors |
CORUMi | Q9UIS9 |
IntActi | Q9UIS9, 20 interactors |
MINTi | Q9UIS9 |
STRINGi | 9606.ENSP00000468785 |
Miscellaneous databases
RNActi | Q9UIS9, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | Q9UIS9 |
SMRi | Q9UIS9 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9UIS9 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 1 – 69 | MBDPROSITE-ProRule annotation3 PublicationsAdd BLAST | 69 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 529 – 592 | Transcriptional repression domain (TRD)1 PublicationAdd BLAST | 64 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 84 – 88 | Nuclear localization signalSequence analysis | 5 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 284 – 313 | Pro-richAdd BLAST | 30 |
Domaini
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 169 – 216 | CXXC-type 1PROSITE-ProRule annotation1 PublicationAdd BLAST | 48 | |
Zinc fingeri | 217 – 263 | CXXC-type 2PROSITE-ProRule annotationAdd BLAST | 47 | |
Zinc fingeri | 330 – 378 | CXXC-type 3PROSITE-ProRule annotation1 PublicationAdd BLAST | 49 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | ENOG502QQE9, Eukaryota |
GeneTreei | ENSGT00950000183005 |
HOGENOMi | CLU_031386_0_0_1 |
InParanoidi | Q9UIS9 |
OMAi | DCPSKAV |
OrthoDBi | 1431783at2759 |
PhylomeDBi | Q9UIS9 |
Family and domain databases
IDEALi | IID00332 |
InterProi | View protein in InterPro IPR016177, DNA-bd_dom_sf IPR001739, Methyl_CpG_DNA-bd IPR002857, Znf_CXXC |
Pfami | View protein in Pfam PF01429, MBD, 1 hit PF02008, zf-CXXC, 3 hits |
SMARTi | View protein in SMART SM00391, MBD, 1 hit |
SUPFAMi | SSF54171, SSF54171, 1 hit |
PROSITEi | View protein in PROSITE PS50982, MBD, 1 hit PS51058, ZF_CXXC, 3 hits |
s (11+)i Sequence
Sequence statusi: Complete.
This entry describes 11 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 11 described isoforms and 5 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
MAEDWLDCPA LGPGWKRREV FRKSGATCGR SDTYYQSPTG DRIRSKVELT
60 70 80 90 100
RYLGPACDLT LFDFKQGILC YPAPKAHPVA VASKKRKKPS RPAKTRKRQV
110 120 130 140 150
GPQSGEVRKE APRDETKADT DTAPASFPAP GCCENCGISF SGDGTQRQRL
160 170 180 190 200
KTLCKDCRAQ RIAFNREQRM FKRVGCGECA ACQVTEDCGA CSTCLLQLPH
210 220 230 240 250
DVASGLFCKC ERRRCLRIVE RSRGCGVCRG CQTQEDCGHC PICLRPPRPG
260 270 280 290 300
LRRQWKCVQR RCLRGKHARR KGGCDSKMAA RRRPGAQPLP PPPPSQSPEP
310 320 330 340 350
TEPHPRALAP SPPAEFIYYC VDEDELQPYT NRRQNRKCGA CAACLRRMDC
360 370 380 390 400
GRCDFCCDKP KFGGSNQKRQ KCRWRQCLQF AMKRLLPSVW SESEDGAGSP
410 420 430 440 450
PPYRRRKRPS SARRHHLGPT LKPTLATRTA QPDHTQAPTK QEAGGGFVLP
460 470 480 490 500
PPGTDLVFLR EGASSPVQVP GPVAASTEAL LQEAQCSGLS WVVALPQVKQ
510 520 530 540 550
EKADTQDEWT PGTAVLTSPV LVPGCPSKAV DPGLPSVKQE PPDPEEDKEE
560 570 580 590 600
NKDDSASKLA PEEEAGGAGT PVITEIFSLG GTRFRDTAVW LPRSKDLKKP
GARKQ
The sequence of this isoform differs from the canonical sequence as follows:
173-221: Missing.
327-327: Missing.
594-605: SKDLKKPGARKQ → YYHLALDWKCNCGYHLCCRSVLVP
The sequence of this isoform differs from the canonical sequence as follows:
326-382: LQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAM → L
483-528: Missing.
594-605: SKDLKKPGARKQ → AGTREGKMDVKCGRPRTQWSPRARAGTHEDGLEPMSVSHHLQLR
The sequence of this isoform differs from the canonical sequence as follows:
593-605: RSKDLKKPGARKQ → SLQGRHSGRE...RRSWCPSSQS
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MS90 | A0A0A0MS90_HUMAN | Methyl-CpG-binding domain protein 1 | MBD1 | 566 | Annotation score: | ||
K7EPZ6 | K7EPZ6_HUMAN | Methyl-CpG-binding domain protein 1 | MBD1 | 416 | Annotation score: | ||
K7EMA9 | K7EMA9_HUMAN | Methyl-CpG-binding domain protein 1 | MBD1 | 256 | Annotation score: | ||
K7EN65 | K7EN65_HUMAN | Methyl-CpG-binding domain protein 1 | MBD1 | 240 | Annotation score: | ||
K7EIN3 | K7EIN3_HUMAN | Methyl-CpG-binding domain protein 1 | MBD1 | 44 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Sequence conflicti | 239 | H → R in ABP02056 (Ref. 5) Curated | 1 | ||
Sequence conflicti | 330 | T → M in ABP02056 (Ref. 5) Curated | 1 | ||
Sequence conflicti | 348 – 349 | MD → NG in CAA71735 (PubMed:9207790).Curated | 2 | ||
Sequence conflicti | 348 – 349 | MD → NG in AAD51442 (PubMed:10454587).Curated | 2 | ||
Sequence conflicti | 348 – 349 | MD → NG in AAD51443 (PubMed:10454587).Curated | 2 | ||
Sequence conflicti | 489 | L → M in CAA71735 (PubMed:9207790).Curated | 1 | ||
Isoform 7 (identifier: Q9UIS9-7) | |||||
Sequence conflicti | 327 | K → Q in AAD51444 (PubMed:10454587).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_019513 | 401 | P → A1 PublicationCorresponds to variant dbSNP:rs125555Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_011064 | 173 – 221 | Missing in isoform 5 and isoform 10. 1 PublicationAdd BLAST | 49 | |
Alternative sequenceiVSP_042812 | 264 | R → RHLAHRLRRRHQRCQRRTPL AVAPPT in isoform 9. 1 Publication | 1 | |
Alternative sequenceiVSP_011065 | 304 – 326 | Missing in isoform 2 and isoform 8. 2 PublicationsAdd BLAST | 23 | |
Alternative sequenceiVSP_054736 | 326 – 382 | LQPYT…LQFAM → L in isoform 11. CuratedAdd BLAST | 57 | |
Alternative sequenceiVSP_011066 | 327 – 382 | Missing in isoform 4 and isoform 7. 2 PublicationsAdd BLAST | 56 | |
Alternative sequenceiVSP_054737 | 327 | Missing in isoform 10. Curated | 1 | |
Alternative sequenceiVSP_011068 | 483 – 528 | Missing in isoform 2, isoform 4, isoform 6, isoform 8 and isoform 11. 2 PublicationsAdd BLAST | 46 | |
Alternative sequenceiVSP_011069 | 573 – 596 | ITEIF…PRSKD → EPTTQPQYSGNFDNDLYEIY LIDI in isoform 6. CuratedAdd BLAST | 24 | |
Alternative sequenceiVSP_011070 | 593 – 605 | RSKDL…GARKQ → SLQGRHSGREDGCKVWETED TVEPTSTSWNPRGWPGTHVS LSPPPASMMWVSCRRSWCPS SQS in isoform 2 and isoform 12. 1 PublicationAdd BLAST | 13 | |
Alternative sequenceiVSP_054738 | 594 – 605 | SKDLK…GARKQ → YYHLALDWKCNCGYHLCCRS VLVP in isoform 10. CuratedAdd BLAST | 12 | |
Alternative sequenceiVSP_054739 | 594 – 605 | SKDLK…GARKQ → AGTREGKMDVKCGRPRTQWS PRARAGTHEDGLEPMSVSHH LQLR in isoform 11. CuratedAdd BLAST | 12 | |
Alternative sequenceiVSP_011071 | 597 – 605 | Missing in isoform 6. Curated | 9 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1D9N | NMR | - | A | 1-75 | [»] | |
1IG4 | NMR | - | A | 1-75 | [»] | |
4D4W | NMR | - | A | 167-222 | [»] | |
5W9Q | X-ray | 1.80 | A/B | 330-388 | [»] | |
6D1T | X-ray | 2.25 | A | 1-77 | [»] | |
BMRBi | Q9UIS9 | |||||
SMRi | Q9UIS9 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110322, 38 interactors |
CORUMi | Q9UIS9 |
IntActi | Q9UIS9, 20 interactors |
MINTi | Q9UIS9 |
STRINGi | 9606.ENSP00000468785 |
PTM databases
iPTMneti | Q9UIS9 |
PhosphoSitePlusi | Q9UIS9 |
Genetic variation databases
BioMutai | MBD1 |
DMDMi | 50401200 |
Proteomic databases
EPDi | Q9UIS9 |
jPOSTi | Q9UIS9 |
MassIVEi | Q9UIS9 |
PaxDbi | Q9UIS9 |
PeptideAtlasi | Q9UIS9 |
PRIDEi | Q9UIS9 |
ProteomicsDBi | 84560 [Q9UIS9-1] 84561 [Q9UIS9-2] 84562 [Q9UIS9-4] 84563 [Q9UIS9-5] 84564 [Q9UIS9-6] 84565 [Q9UIS9-7] 84566 [Q9UIS9-8] 84567 [Q9UIS9-9] |
Protocols and materials databases
Antibodypediai | 3959, 413 antibodies |
CPTCi | Q9UIS9, 3 antibodies |
DNASUi | 4152 |
Genome annotation databases
Organism-specific databases
CTDi | 4152 |
DisGeNETi | 4152 |
GeneCardsi | MBD1 |
HGNCi | HGNC:6916, MBD1 |
HPAi | ENSG00000141644, Low tissue specificity |
MIMi | 156535, gene |
neXtProti | NX_Q9UIS9 |
OpenTargetsi | ENSG00000141644 |
PharmGKBi | PA30659 |
VEuPathDBi | HostDB:ENSG00000141644.17 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QQE9, Eukaryota |
GeneTreei | ENSGT00950000183005 |
HOGENOMi | CLU_031386_0_0_1 |
InParanoidi | Q9UIS9 |
OMAi | DCPSKAV |
OrthoDBi | 1431783at2759 |
PhylomeDBi | Q9UIS9 |
Enzyme and pathway databases
PathwayCommonsi | Q9UIS9 |
Reactomei | R-HSA-3899300, SUMOylation of transcription cofactors |
SIGNORi | Q9UIS9 |
Miscellaneous databases
BioGRID-ORCSi | 4152, 10 hits in 897 CRISPR screens |
ChiTaRSi | MBD1, human |
EvolutionaryTracei | Q9UIS9 |
GeneWikii | MBD1 |
GenomeRNAii | 4152 |
Pharosi | Q9UIS9, Tbio |
PROi | PR:Q9UIS9 |
RNActi | Q9UIS9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000141644, Expressed in testis and 241 other tissues |
ExpressionAtlasi | Q9UIS9, baseline and differential |
Genevisiblei | Q9UIS9, HS |
Family and domain databases
IDEALi | IID00332 |
InterProi | View protein in InterPro IPR016177, DNA-bd_dom_sf IPR001739, Methyl_CpG_DNA-bd IPR002857, Znf_CXXC |
Pfami | View protein in Pfam PF01429, MBD, 1 hit PF02008, zf-CXXC, 3 hits |
SMARTi | View protein in SMART SM00391, MBD, 1 hit |
SUPFAMi | SSF54171, SSF54171, 1 hit |
PROSITEi | View protein in PROSITE PS50982, MBD, 1 hit PS51058, ZF_CXXC, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MBD1_HUMAN | |
Accessioni | Q9UIS9Primary (citable) accession number: Q9UIS9 Secondary accession number(s): A4UTZ0 Q9UNZ9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 19, 2004 |
Last sequence update: | July 19, 2004 | |
Last modified: | February 10, 2021 | |
This is version 196 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
3D-structure, Reference proteomeDocuments
- Human chromosome 18
Human chromosome 18: 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references