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UniProtKB - Q9UIS9 (MBD1_HUMAN)

Protein

Methyl-CpG-binding domain protein 1

Gene

MBD1

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

Functioni

Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage by methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by recruiting AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a complex with SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation. Isoform 1 and isoform 2 can also repress transcription from unmethylated promoters.10 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri169 – 216CXXC-type 1PROSITE-ProRule annotationAdd BLAST48
Zinc fingeri217 – 263CXXC-type 2PROSITE-ProRule annotationAdd BLAST47
Zinc fingeri330 – 378CXXC-type 3PROSITE-ProRule annotationAdd BLAST49

GO - Molecular functioni

  • DNA binding Source: ProtInc
  • DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
  • double-stranded methylated DNA binding Source: MGI
  • methyl-CpG binding Source: UniProtKB
  • zinc ion binding Source: InterPro
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-3899300 SUMOylation of transcription cofactors
SIGNORiQ9UIS9

Names & Taxonomyi

Protein namesi
Recommended name:
Methyl-CpG-binding domain protein 1
Alternative name(s):
CXXC-type zinc finger protein 3
Methyl-CpG-binding protein MBD1
Protein containing methyl-CpG-binding domain 1
Gene namesi
Name:MBD1
Synonyms:CXXC3, PCM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000141644.17
HGNCiHGNC:6916 MBD1
MIMi156535 gene
neXtProtiNX_Q9UIS9

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

Chromosome, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi22R → A: Abolishes binding to methylated DNA. 1
Mutagenesisi30R → A: Strongly reduces binding to methylated DNA. 1 Publication1
Mutagenesisi32D → A: Strongly reduces binding to methylated DNA. 1 Publication1
Mutagenesisi34Y → A: Reduces binding to methylated DNA. 1 Publication1
Mutagenesisi44R → A: Abolishes binding to methylated DNA. 1 Publication1
Mutagenesisi45S → A: Slightly reduces binding to methylated DNA. 1 Publication1
Mutagenesisi52Y → A: No effect. 1 Publication1
Mutagenesisi64F → A: Disrupts tertiary structure and abolishes DNA binding. 1 Publication1
Mutagenesisi499K → A: Abolishes sumoylation; when associated with A-538. 1 Publication1
Mutagenesisi501E → A: Abolishes sumoylation; when associated with A-540. 1 Publication1
Mutagenesisi538K → A: Abolishes sumoylation; when associated with A-499. 1 Publication1
Mutagenesisi540E → A: Abolishes sumoylation; when associated with A-501. 1 Publication1
Mutagenesisi576I → R: Abolishes interaction with AFT7IP and subsequent transcription repression activity. 1 Publication1

Organism-specific databases

DisGeNETi4152
OpenTargetsiENSG00000141644
PharmGKBiPA30659

Polymorphism and mutation databases

BioMutaiMBD1
DMDMi50401200

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000962581 – 605Methyl-CpG-binding domain protein 1Add BLAST605

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki117Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki277Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei297PhosphoserineCombined sources1
Modified residuei391PhosphoserineCombined sources1
Modified residuei399PhosphoserineCombined sources1
Cross-linki422Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki440Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki499Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate1 Publication
Cross-linki499Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki538Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
Cross-linki538Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki558Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Post-translational modificationi

Sumoylated with SUMO1 by PIAS1 and PIAS3. Sumoylation affects transcriptional silencing by preventing the interaction with SETDB1. In contrast, sumoylation may increase interaction with AFT7IP.2 Publications

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9UIS9
PaxDbiQ9UIS9
PeptideAtlasiQ9UIS9
PRIDEiQ9UIS9
ProteomicsDBi84560
84561 [Q9UIS9-2]
84562 [Q9UIS9-4]
84563 [Q9UIS9-5]
84564 [Q9UIS9-6]
84565 [Q9UIS9-7]
84566 [Q9UIS9-8]
84567 [Q9UIS9-9]

PTM databases

iPTMnetiQ9UIS9
PhosphoSitePlusiQ9UIS9

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Inductioni

Up-regulated by interferon.1 Publication

Gene expression databases

BgeeiENSG00000141644 Expressed in 228 organ(s), highest expression level in testis
CleanExiHS_PCM1
ExpressionAtlasiQ9UIS9 baseline and differential
GenevisibleiQ9UIS9 HS

Organism-specific databases

HPAiCAB009017
CAB036003
HPA068850

Interactioni

Subunit structurei

Interacts with the Ten-1 ICD form of TENM1 (By similarity). Interacts with OASL, AFT7IP, AFT7IP2 and BAHD1. Binds CHAF1A and the SUV39H1-CBX5 complex via the MBD domain. Binds MGP via the TRD domain. May be part of the MeCP1 complex. During DNA replication, it recruits SETDB1 to form a S phase-specific complex that facilitates methylation of H3 'Lys-9' during replication-coupled chromatin assembly and is at least composed of the CAF-1 subunit CHAF1A, MBD1 and SETDB1.By similarity12 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi110322, 30 interactors
CORUMiQ9UIS9
IntActiQ9UIS9, 19 interactors
MINTiQ9UIS9
STRINGi9606.ENSP00000405268

Structurei

Secondary structure

1605
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9UIS9
SMRiQ9UIS9
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UIS9

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 69MBDPROSITE-ProRule annotationAdd BLAST69

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni529 – 592TRDAdd BLAST64

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi84 – 88Nuclear localization signalSequence analysis5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi284 – 313Pro-richAdd BLAST30

Domaini

The methyl-CpG-binding domain (MBD) functions both in binding to methylated DNA and in protein interactions.
The third CXXC-type zinc finger mediates binding to non-methylated CpG dinucleotides.
The transcriptional repression domain (TRD) is involved in transcription repression and in protein interactions.

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri169 – 216CXXC-type 1PROSITE-ProRule annotationAdd BLAST48
Zinc fingeri217 – 263CXXC-type 2PROSITE-ProRule annotationAdd BLAST47
Zinc fingeri330 – 378CXXC-type 3PROSITE-ProRule annotationAdd BLAST49

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IIBG Eukaryota
ENOG4111S3X LUCA
GeneTreeiENSGT00730000111257
HOVERGENiHBG052416
InParanoidiQ9UIS9
KOiK11589
OMAiREDCGRC
OrthoDBiEOG091G0I05
PhylomeDBiQ9UIS9

Family and domain databases

InterProiView protein in InterPro
IPR016177 DNA-bd_dom_sf
IPR001739 Methyl_CpG_DNA-bd
IPR002857 Znf_CXXC
PfamiView protein in Pfam
PF01429 MBD, 1 hit
PF02008 zf-CXXC, 3 hits
SMARTiView protein in SMART
SM00391 MBD, 1 hit
SUPFAMiSSF54171 SSF54171, 1 hit
PROSITEiView protein in PROSITE
PS50982 MBD, 1 hit
PS51058 ZF_CXXC, 3 hits

Sequences (11+)i

Sequence statusi: Complete.

This entry describes 11 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 11 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UIS9-1) [UniParc]FASTAAdd to basket
Also known as: MBD1v1

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
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
Length:605
Mass (Da):66,607
Last modified:July 19, 2004 - v2
Checksum:i665732782CC6A32A
GO
Isoform 2 (identifier: Q9UIS9-2) [UniParc]FASTAAdd to basket
Also known as: MBD1v2

The sequence of this isoform differs from the canonical sequence as follows:
     304-326: Missing.
     483-528: Missing.
     593-605: RSKDLKKPGARKQ → SLQGRHSGRE...RRSWCPSSQS

Show »
Length:586
Mass (Da):64,677
Checksum:iB77C386F65EA8718
GO
Isoform 4 (identifier: Q9UIS9-4) [UniParc]FASTAAdd to basket
Also known as: MBD1v3

The sequence of this isoform differs from the canonical sequence as follows:
     327-382: Missing.
     483-528: Missing.

Show »
Length:503
Mass (Da):55,167
Checksum:iC5D0267B1D464ACD
GO
Isoform 5 (identifier: Q9UIS9-5) [UniParc]FASTAAdd to basket
Also known as: PCM1

The sequence of this isoform differs from the canonical sequence as follows:
     173-221: Missing.

Show »
Length:556
Mass (Da):61,265
Checksum:i2426F8B3EFD49E3B
GO
Isoform 6 (identifier: Q9UIS9-6) [UniParc]FASTAAdd to basket
Also known as: MBD1v6

The sequence of this isoform differs from the canonical sequence as follows:
     483-528: Missing.
     573-596: ITEIFSLGGTRFRDTAVWLPRSKD → EPTTQPQYSGNFDNDLYEIYLIDI
     597-605: Missing.

Show »
Length:550
Mass (Da):60,848
Checksum:i34194D340ED94FAB
GO
Isoform 7 (identifier: Q9UIS9-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     327-382: Missing.

Show »
Length:549
Mass (Da):60,001
Checksum:i45456E4E96182B5C
GO
Isoform 8 (identifier: Q9UIS9-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     304-326: Missing.
     483-528: Missing.

Show »
Length:536
Mass (Da):59,158
Checksum:i9ED6B5AEF1FF8BD9
GO
Isoform 9 (identifier: Q9UIS9-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     264-264: R → RHLAHRLRRRHQRCQRRTPLAVAPPT

Show »
Length:630
Mass (Da):69,617
Checksum:i23AF6E138EA8AD82
GO
Isoform 10 (identifier: Q9UIS9-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     173-221: Missing.
     327-327: Missing.
     594-605: SKDLKKPGARKQ → YYHLALDWKCNCGYHLCCRSVLVP

Note: No experimental confirmation available.
Show »
Length:567
Mass (Da):62,639
Checksum:i1C2991C7EEE79687
GO
Isoform 11 (identifier: Q9UIS9-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     326-382: LQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAM → L
     483-528: Missing.
     594-605: SKDLKKPGARKQ → AGTREGKMDVKCGRPRTQWSPRARAGTHEDGLEPMSVSHHLQLR

Note: No experimental confirmation available.
Show »
Length:535
Mass (Da):58,752
Checksum:iBC13139056A0875D
GO
Isoform 12 (identifier: Q9UIS9-12) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     593-605: RSKDLKKPGARKQ → SLQGRHSGRE...RRSWCPSSQS

Note: No experimental confirmation available.
Show »
Length:655
Mass (Da):72,126
Checksum:i0B83174575D7A4BE
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MS90A0A0A0MS90_HUMAN
Methyl-CpG-binding domain protein 1
MBD1
566Annotation score:
K7EPZ6K7EPZ6_HUMAN
Methyl-CpG-binding domain protein 1
MBD1
416Annotation score:
K7EMA9K7EMA9_HUMAN
Methyl-CpG-binding domain protein 1
MBD1
256Annotation score:
K7EIN3K7EIN3_HUMAN
Methyl-CpG-binding domain protein 1
MBD1
44Annotation score:
K7EN65K7EN65_HUMAN
Methyl-CpG-binding domain protein 1
MBD1
240Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti239H → R in ABP02056 (Ref. 5) Curated1
Sequence conflicti330T → M in ABP02056 (Ref. 5) Curated1
Sequence conflicti348 – 349MD → NG in CAA71735 (PubMed:9207790).Curated2
Sequence conflicti348 – 349MD → NG in AAD51442 (PubMed:10454587).Curated2
Sequence conflicti348 – 349MD → NG in AAD51443 (PubMed:10454587).Curated2
Sequence conflicti489L → M in CAA71735 (PubMed:9207790).Curated1
Isoform 7 (identifier: Q9UIS9-7)
Sequence conflicti327K → Q in AAD51444 (PubMed:10454587).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019513401P → A1 PublicationCorresponds to variant dbSNP:rs125555Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011064173 – 221Missing in isoform 5 and isoform 10. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_042812264R → RHLAHRLRRRHQRCQRRTPL AVAPPT in isoform 9. 1 Publication1
Alternative sequenceiVSP_011065304 – 326Missing in isoform 2 and isoform 8. 2 PublicationsAdd BLAST23
Alternative sequenceiVSP_054736326 – 382LQPYT…LQFAM → L in isoform 11. CuratedAdd BLAST57
Alternative sequenceiVSP_011066327 – 382Missing in isoform 4 and isoform 7. 2 PublicationsAdd BLAST56
Alternative sequenceiVSP_054737327Missing in isoform 10. Curated1
Alternative sequenceiVSP_011068483 – 528Missing in isoform 2, isoform 4, isoform 6, isoform 8 and isoform 11. 2 PublicationsAdd BLAST46
Alternative sequenceiVSP_011069573 – 596ITEIF…PRSKD → EPTTQPQYSGNFDNDLYEIY LIDI in isoform 6. CuratedAdd BLAST24
Alternative sequenceiVSP_011070593 – 605RSKDL…GARKQ → SLQGRHSGREDGCKVWETED TVEPTSTSWNPRGWPGTHVS LSPPPASMMWVSCRRSWCPS SQS in isoform 2 and isoform 12. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_054738594 – 605SKDLK…GARKQ → YYHLALDWKCNCGYHLCCRS VLVP in isoform 10. CuratedAdd BLAST12
Alternative sequenceiVSP_054739594 – 605SKDLK…GARKQ → AGTREGKMDVKCGRPRTQWS PRARAGTHEDGLEPMSVSHH LQLR in isoform 11. CuratedAdd BLAST12
Alternative sequenceiVSP_011071597 – 605Missing in isoform 6. Curated9

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y10746 mRNA Translation: CAA71735.1
AF120981, AF120980 Genomic DNA Translation: AAD50371.1
AF078830 mRNA Translation: AAD51442.1
AF078831 mRNA Translation: AAD51443.1
AF078832 mRNA Translation: AAD51444.1
AF078833 mRNA Translation: AAD51445.1
EF488685 mRNA Translation: ABP02056.1
AK302004 mRNA Translation: BAG63407.1
AC090246 Genomic DNA No translation available.
BC033242 mRNA Translation: AAH33242.1
AJ564845 mRNA Translation: CAD92308.1
AF072241 mRNA Translation: AAC68870.1
CCDSiCCDS11941.1 [Q9UIS9-4]
CCDS11942.1 [Q9UIS9-7]
CCDS11943.1 [Q9UIS9-1]
CCDS11944.1 [Q9UIS9-5]
CCDS32832.1 [Q9UIS9-2]
CCDS56071.1 [Q9UIS9-8]
CCDS56072.1 [Q9UIS9-6]
CCDS56073.1 [Q9UIS9-9]
CCDS59318.1 [Q9UIS9-10]
CCDS59319.1 [Q9UIS9-11]
CCDS59320.1 [Q9UIS9-12]
RefSeqiNP_001191065.1, NM_001204136.1 [Q9UIS9-12]
NP_001191066.1, NM_001204137.1 [Q9UIS9-9]
NP_001191067.1, NM_001204138.1
NP_001191068.1, NM_001204139.1 [Q9UIS9-1]
NP_001191069.1, NM_001204140.1
NP_001191070.1, NM_001204141.1 [Q9UIS9-10]
NP_001191071.1, NM_001204142.1 [Q9UIS9-6]
NP_001191072.1, NM_001204143.1 [Q9UIS9-11]
NP_001191080.1, NM_001204151.2 [Q9UIS9-8]
NP_002375.1, NM_002384.2 [Q9UIS9-4]
NP_056669.2, NM_015844.2 [Q9UIS9-7]
NP_056670.2, NM_015845.3 [Q9UIS9-2]
NP_056671.2, NM_015846.3 [Q9UIS9-1]
NP_056723.2, NM_015847.3 [Q9UIS9-5]
XP_005258328.1, XM_005258271.2 [Q9UIS9-1]
XP_011524295.1, XM_011525993.2 [Q9UIS9-9]
XP_011524296.1, XM_011525994.2
XP_011524308.1, XM_011526006.1 [Q9UIS9-11]
XP_016881249.1, XM_017025760.1 [Q9UIS9-1]
XP_016881259.1, XM_017025770.1 [Q9UIS9-7]
XP_016881260.1, XM_017025771.1
XP_016881265.1, XM_017025776.1 [Q9UIS9-4]
UniGeneiHs.405610

Genome annotation databases

EnsembliENST00000269468; ENSP00000269468; ENSG00000141644 [Q9UIS9-1]
ENST00000269471; ENSP00000269471; ENSG00000141644 [Q9UIS9-2]
ENST00000339998; ENSP00000339546; ENSG00000141644 [Q9UIS9-6]
ENST00000347968; ENSP00000285102; ENSG00000141644 [Q9UIS9-7]
ENST00000353909; ENSP00000269469; ENSG00000141644 [Q9UIS9-5]
ENST00000382948; ENSP00000372407; ENSG00000141644 [Q9UIS9-1]
ENST00000398488; ENSP00000381502; ENSG00000141644 [Q9UIS9-4]
ENST00000398493; ENSP00000381506; ENSG00000141644 [Q9UIS9-7]
ENST00000457839; ENSP00000405268; ENSG00000141644 [Q9UIS9-9]
ENST00000585595; ENSP00000468430; ENSG00000141644 [Q9UIS9-9]
ENST00000585672; ENSP00000466092; ENSG00000141644 [Q9UIS9-10]
ENST00000587605; ENSP00000468042; ENSG00000141644 [Q9UIS9-11]
ENST00000588937; ENSP00000467763; ENSG00000141644 [Q9UIS9-2]
ENST00000590208; ENSP00000468785; ENSG00000141644 [Q9UIS9-12]
ENST00000591416; ENSP00000467017; ENSG00000141644 [Q9UIS9-1]
ENST00000591535; ENSP00000465923; ENSG00000141644 [Q9UIS9-8]
GeneIDi4152
KEGGihsa:4152
UCSCiuc002leg.4 human [Q9UIS9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y10746 mRNA Translation: CAA71735.1
AF120981, AF120980 Genomic DNA Translation: AAD50371.1
AF078830 mRNA Translation: AAD51442.1
AF078831 mRNA Translation: AAD51443.1
AF078832 mRNA Translation: AAD51444.1
AF078833 mRNA Translation: AAD51445.1
EF488685 mRNA Translation: ABP02056.1
AK302004 mRNA Translation: BAG63407.1
AC090246 Genomic DNA No translation available.
BC033242 mRNA Translation: AAH33242.1
AJ564845 mRNA Translation: CAD92308.1
AF072241 mRNA Translation: AAC68870.1
CCDSiCCDS11941.1 [Q9UIS9-4]
CCDS11942.1 [Q9UIS9-7]
CCDS11943.1 [Q9UIS9-1]
CCDS11944.1 [Q9UIS9-5]
CCDS32832.1 [Q9UIS9-2]
CCDS56071.1 [Q9UIS9-8]
CCDS56072.1 [Q9UIS9-6]
CCDS56073.1 [Q9UIS9-9]
CCDS59318.1 [Q9UIS9-10]
CCDS59319.1 [Q9UIS9-11]
CCDS59320.1 [Q9UIS9-12]
RefSeqiNP_001191065.1, NM_001204136.1 [Q9UIS9-12]
NP_001191066.1, NM_001204137.1 [Q9UIS9-9]
NP_001191067.1, NM_001204138.1
NP_001191068.1, NM_001204139.1 [Q9UIS9-1]
NP_001191069.1, NM_001204140.1
NP_001191070.1, NM_001204141.1 [Q9UIS9-10]
NP_001191071.1, NM_001204142.1 [Q9UIS9-6]
NP_001191072.1, NM_001204143.1 [Q9UIS9-11]
NP_001191080.1, NM_001204151.2 [Q9UIS9-8]
NP_002375.1, NM_002384.2 [Q9UIS9-4]
NP_056669.2, NM_015844.2 [Q9UIS9-7]
NP_056670.2, NM_015845.3 [Q9UIS9-2]
NP_056671.2, NM_015846.3 [Q9UIS9-1]
NP_056723.2, NM_015847.3 [Q9UIS9-5]
XP_005258328.1, XM_005258271.2 [Q9UIS9-1]
XP_011524295.1, XM_011525993.2 [Q9UIS9-9]
XP_011524296.1, XM_011525994.2
XP_011524308.1, XM_011526006.1 [Q9UIS9-11]
XP_016881249.1, XM_017025760.1 [Q9UIS9-1]
XP_016881259.1, XM_017025770.1 [Q9UIS9-7]
XP_016881260.1, XM_017025771.1
XP_016881265.1, XM_017025776.1 [Q9UIS9-4]
UniGeneiHs.405610

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1D9NNMR-A1-75[»]
1IG4NMR-A1-75[»]
4D4WNMR-A167-222[»]
5W9QX-ray1.80A/B330-388[»]
6D1TX-ray2.25A1-77[»]
ProteinModelPortaliQ9UIS9
SMRiQ9UIS9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110322, 30 interactors
CORUMiQ9UIS9
IntActiQ9UIS9, 19 interactors
MINTiQ9UIS9
STRINGi9606.ENSP00000405268

PTM databases

iPTMnetiQ9UIS9
PhosphoSitePlusiQ9UIS9

Polymorphism and mutation databases

BioMutaiMBD1
DMDMi50401200

Proteomic databases

EPDiQ9UIS9
PaxDbiQ9UIS9
PeptideAtlasiQ9UIS9
PRIDEiQ9UIS9
ProteomicsDBi84560
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

DNASUi4152
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269468; ENSP00000269468; ENSG00000141644 [Q9UIS9-1]
ENST00000269471; ENSP00000269471; ENSG00000141644 [Q9UIS9-2]
ENST00000339998; ENSP00000339546; ENSG00000141644 [Q9UIS9-6]
ENST00000347968; ENSP00000285102; ENSG00000141644 [Q9UIS9-7]
ENST00000353909; ENSP00000269469; ENSG00000141644 [Q9UIS9-5]
ENST00000382948; ENSP00000372407; ENSG00000141644 [Q9UIS9-1]
ENST00000398488; ENSP00000381502; ENSG00000141644 [Q9UIS9-4]
ENST00000398493; ENSP00000381506; ENSG00000141644 [Q9UIS9-7]
ENST00000457839; ENSP00000405268; ENSG00000141644 [Q9UIS9-9]
ENST00000585595; ENSP00000468430; ENSG00000141644 [Q9UIS9-9]
ENST00000585672; ENSP00000466092; ENSG00000141644 [Q9UIS9-10]
ENST00000587605; ENSP00000468042; ENSG00000141644 [Q9UIS9-11]
ENST00000588937; ENSP00000467763; ENSG00000141644 [Q9UIS9-2]
ENST00000590208; ENSP00000468785; ENSG00000141644 [Q9UIS9-12]
ENST00000591416; ENSP00000467017; ENSG00000141644 [Q9UIS9-1]
ENST00000591535; ENSP00000465923; ENSG00000141644 [Q9UIS9-8]
GeneIDi4152
KEGGihsa:4152
UCSCiuc002leg.4 human [Q9UIS9-1]

Organism-specific databases

CTDi4152
DisGeNETi4152
EuPathDBiHostDB:ENSG00000141644.17
GeneCardsiMBD1
HGNCiHGNC:6916 MBD1
HPAiCAB009017
CAB036003
HPA068850
MIMi156535 gene
neXtProtiNX_Q9UIS9
OpenTargetsiENSG00000141644
PharmGKBiPA30659
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIBG Eukaryota
ENOG4111S3X LUCA
GeneTreeiENSGT00730000111257
HOVERGENiHBG052416
InParanoidiQ9UIS9
KOiK11589
OMAiREDCGRC
OrthoDBiEOG091G0I05
PhylomeDBiQ9UIS9

Enzyme and pathway databases

ReactomeiR-HSA-3899300 SUMOylation of transcription cofactors
SIGNORiQ9UIS9

Miscellaneous databases

ChiTaRSiMBD1 human
EvolutionaryTraceiQ9UIS9
GeneWikiiMBD1
GenomeRNAii4152
PROiPR:Q9UIS9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141644 Expressed in 228 organ(s), highest expression level in testis
CleanExiHS_PCM1
ExpressionAtlasiQ9UIS9 baseline and differential
GenevisibleiQ9UIS9 HS

Family and domain databases

InterProiView protein in InterPro
IPR016177 DNA-bd_dom_sf
IPR001739 Methyl_CpG_DNA-bd
IPR002857 Znf_CXXC
PfamiView protein in Pfam
PF01429 MBD, 1 hit
PF02008 zf-CXXC, 3 hits
SMARTiView protein in SMART
SM00391 MBD, 1 hit
SUPFAMiSSF54171 SSF54171, 1 hit
PROSITEiView protein in PROSITE
PS50982 MBD, 1 hit
PS51058 ZF_CXXC, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiMBD1_HUMAN
AccessioniPrimary (citable) accession number: Q9UIS9
Secondary accession number(s): A4UTZ0
, B4DXJ5, E9PEC5, K7ELI2, K7EQZ4, K7ESN0, O15248, O95241, Q7Z7B5, Q8N4W4, Q9UNZ6, Q9UNZ7, Q9UNZ8, Q9UNZ9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 19, 2004
Last modified: November 7, 2018
This is version 178 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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