Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Methyl-CpG-binding domain protein 1

Gene

MBD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • chromatin binding Source: Ensembl
  • DNA binding Source: ProtInc
  • double-stranded methylated DNA binding Source: MGI
  • methyl-CpG binding Source: UniProtKB
  • zinc ion binding Source: InterPro

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:6916. MBD1.

Subcellular locationi

  • Nucleus By similarity
  • Nucleus matrix By similarity
  • Nucleus speckle
  • Chromosome

  • Note: Colocalizes with the Ten-1 ICD form of TENM1 in foci associated with the nuclear matrix (By similarity). Nuclear, in a punctate pattern. Associated with euchromatic regions of the chromosomes, with pericentromeric regions on chromosome 1 and with telomeric regions from several chromosomes.By similarity

GO - Cellular componenti

  • cytoplasm Source: Ensembl
  • nuclear chromatin Source: Ensembl
  • nuclear matrix Source: UniProtKB
  • nuclear speck Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

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-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-linki499Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
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

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.

PTM databases

iPTMnetiQ9UIS9.
PhosphoSitePlusiQ9UIS9.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Inductioni

Up-regulated by interferon.1 Publication

Gene expression databases

BgeeiENSG00000141644.
CleanExiHS_PCM1.
ExpressionAtlasiQ9UIS9. baseline and differential.
GenevisibleiQ9UIS9. HS.

Organism-specific databases

HPAiCAB009017.
CAB036003.

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

WithEntry#Exp.IntActNotes
CBX5P459736EBI-867196,EBI-78219
CHAF1AQ131113EBI-867196,EBI-1020839
HDAC1Q135472EBI-867196,EBI-301834
HDAC2Q927692EBI-867196,EBI-301821
HDAC3O153793EBI-867196,EBI-607682
HTTP428582EBI-867196,EBI-466029
PIAS1O759253EBI-867196,EBI-629434
PIAS3Q9Y6X23EBI-867196,EBI-2803703
PML-RARQ151564EBI-867196,EBI-867256
SETDB1Q150473EBI-867196,EBI-79691
SUMO1P631653EBI-867196,EBI-80140
SUV39H1O434635EBI-867196,EBI-349968

Protein-protein interaction databases

BioGridi110322. 30 interactors.
IntActiQ9UIS9. 19 interactors.
MINTiMINT-2860643.
STRINGi9606.ENSP00000405268.

Structurei

Secondary structure

1605
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi5 – 7Combined sources3
Turni9 – 11Combined sources3
Beta strandi16 – 19Combined sources4
Beta strandi21 – 25Combined sources5
Beta strandi33 – 36Combined sources4
Beta strandi38 – 40Combined sources3
Helixi47 – 53Combined sources7
Beta strandi55 – 57Combined sources3
Turni64 – 66Combined sources3
Beta strandi177 – 179Combined sources3
Helixi180 – 183Combined sources4
Helixi194 – 196Combined sources3

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[»]
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.

Sequence similaritiesi

Contains 3 CXXC-type zinc fingers.PROSITE-ProRule annotation
Contains 1 MBD (methyl-CpG-binding) domain.PROSITE-ProRule annotation

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.
OMAiLLQEAQC.
OrthoDBiEOG091G0I05.
PhylomeDBiQ9UIS9.

Family and domain databases

Gene3Di3.30.890.10. 1 hit.
InterProiIPR016177. DNA-bd_dom.
IPR001739. Methyl_CpG_DNA-bd.
IPR002857. Znf_CXXC.
[Graphical view]
PfamiPF01429. MBD. 1 hit.
PF02008. zf-CXXC. 3 hits.
[Graphical view]
SMARTiSM00391. MBD. 1 hit.
[Graphical view]
SUPFAMiSSF54171. SSF54171. 1 hit.
PROSITEiPS50982. MBD. 1 hit.
PS51058. ZF_CXXC. 3 hits.
[Graphical view]

Sequences (11)i

Sequence statusi: Complete.

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

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

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 → A.1 PublicationCorresponds to variant rs125555dbSNPEnsembl.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. [Q9UIS9-9]
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. [Q9UIS9-7]
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

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. [Q9UIS9-9]
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. [Q9UIS9-7]
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[»]
ProteinModelPortaliQ9UIS9.
SMRiQ9UIS9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110322. 30 interactors.
IntActiQ9UIS9. 19 interactors.
MINTiMINT-2860643.
STRINGi9606.ENSP00000405268.

PTM databases

iPTMnetiQ9UIS9.
PhosphoSitePlusiQ9UIS9.

Polymorphism and mutation databases

BioMutaiMBD1.
DMDMi50401200.

Proteomic databases

EPDiQ9UIS9.
PaxDbiQ9UIS9.
PeptideAtlasiQ9UIS9.
PRIDEiQ9UIS9.

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.
GeneCardsiMBD1.
HGNCiHGNC:6916. MBD1.
HPAiCAB009017.
CAB036003.
MIMi156535. gene.
neXtProtiNX_Q9UIS9.
OpenTargetsiENSG00000141644.
PharmGKBiPA30659.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIBG. Eukaryota.
ENOG4111S3X. LUCA.
GeneTreeiENSGT00730000111257.
HOVERGENiHBG052416.
InParanoidiQ9UIS9.
KOiK11589.
OMAiLLQEAQC.
OrthoDBiEOG091G0I05.
PhylomeDBiQ9UIS9.

Miscellaneous databases

ChiTaRSiMBD1. human.
EvolutionaryTraceiQ9UIS9.
GeneWikiiMBD1.
GenomeRNAii4152.
PROiQ9UIS9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141644.
CleanExiHS_PCM1.
ExpressionAtlasiQ9UIS9. baseline and differential.
GenevisibleiQ9UIS9. HS.

Family and domain databases

Gene3Di3.30.890.10. 1 hit.
InterProiIPR016177. DNA-bd_dom.
IPR001739. Methyl_CpG_DNA-bd.
IPR002857. Znf_CXXC.
[Graphical view]
PfamiPF01429. MBD. 1 hit.
PF02008. zf-CXXC. 3 hits.
[Graphical view]
SMARTiSM00391. MBD. 1 hit.
[Graphical view]
SUPFAMiSSF54171. SSF54171. 1 hit.
PROSITEiPS50982. MBD. 1 hit.
PS51058. ZF_CXXC. 3 hits.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 19, 2004
Last modified: November 2, 2016
This is version 160 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.