[1]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). PubMed=9774669 [NCBI, ExPASy, EBI, Israel, Japan] Hendrich B., Bird A.; "Identification and characterization of a family of mammalian methyl-CpG binding proteins."; Mol. Cell. Biol. 18:6538-6547(1998).
[2]	NUCLEOTIDE SEQUENCE [GENOMIC DNA]. DOI=10.1007/s003359901112; PubMed=10441743 [NCBI, ExPASy, EBI, Israel, Japan] Hendrich B., Abbott C., McQueen H., Chambers D., Cross S.H., Bird A.; "Genomic structure and chromosomal mapping of the murine and human mbd1, mbd2, mbd3, and mbd4 genes."; Mamm. Genome 10:906-912(1999).
[3]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND INTERACTION WITH MLH1. TISSUE=Fetal brain; DOI=10.1073/pnas.96.7.3969; PubMed=10097147 [NCBI, ExPASy, EBI, Israel, Japan] Bellacosa A., Cicchillitti L., Schepis F., Riccio A., Yeung A.T., Matsumoto Y., Golemis E.A., Genuardi M., Neri G.; "MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1."; Proc. Natl. Acad. Sci. U.S.A. 96:3969-3974(1999).
[4]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). TISSUE=Lung; Guo J.H., Chen L., Yu L.; Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
[5]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.; "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."; Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
[6]	NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-273; PRO-342; LYS-346 AND HIS-568. NIEHS SNPs program; Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases.
[7]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). TISSUE=Lung; DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[8]	FUNCTION. DOI=10.1074/jbc.M004535200; PubMed=10930409 [NCBI, ExPASy, EBI, Israel, Japan] Petronzelli F., Riccio A., Markham G.D., Seeholzer S.H., Stoerker J., Genuardi M., Yeung A.T., Matsumoto Y., Bellacosa A.; "Biphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylase."; J. Biol. Chem. 275:32422-32429(2000).
[9]	INTERACTION WITH FADD. DOI=10.1073/pnas.0431215100; PubMed=12702765 [NCBI, ExPASy, EBI, Israel, Japan] Screaton R.A., Kiessling S., Sansom O.J., Millar C.B., Maddison K., Bird A., Clarke A.R., Frisch S.M.; "Fas-associated death domain protein interacts with methyl-CpG binding domain protein 4: a potential link between genome surveillance and apoptosis."; Proc. Natl. Acad. Sci. U.S.A. 100:5211-5216(2003).

Comments

FUNCTION: Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein.
SUBUNIT: Interacts with MLH1.
INTERACTION:
P67870:CSNK2B; NbExp=1; IntAct=EBI-348011, EBI-348169;
Q13158:FADD; NbExp=5; IntAct=EBI-348011, EBI-494804;
SUBCELLULAR LOCATION: Nucleus.

ALTERNATIVE PRODUCTS: 3 named isoforms [FASTA] produced by alternative splicing.

Name	1
Isoform ID	O95243-1
This is the isoform sequence displayed in this entry.

Name	2
Isoform ID	O95243-2
Note: No experimental confirmation available.
Features which should be applied to build the isoform sequence: VSP_010816.

Name	3
Isoform ID	O95243-3
Note: No experimental confirmation available.
Features which should be applied to build the isoform sequence: VSP_010817, VSP_010818.

SIMILARITY: Contains 1 MBD (methyl-CpG-binding) domain.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mbd4/";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

AF072250; AAC68879.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF120999; AAD50374.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF120997; AAD50374.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF120998; AAD50374.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF114784; AAD22195.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF532602; AAP97338.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
CR450305; CAG29301.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF494057; AAM00008.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC011752; AAH11752.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

RefSeq

NP_003916.1; -.

UniGene

Hs.35947

3D structure databases

HSSP

Q9Z2D7; 1NGN. [HSSP ENTRY / PDB]

SMR

O95243; 437-580.

ModBase

O95243.

Protein-protein interaction databases

IntAct

O95243; 2.

PTM databases

PhosphoSite

O95243; -.

Enzyme and pathway databases

Reactome

REACT_216; DNA Repair.

Organism-specific databases

GC03M130632; -.

HIX0003669; -.

HGNC:6919; MBD4.

HPA002031; -.

603574; gene. [NCBI / EBI]

PharmGKB

PA30663; -.

GeneCards

O95243.

Gene expression databases

ArrayExpress

O95243; -.

CleanEx

HS_MBD4; -.
HS_MED1; -.

GermOnline

ENSG00000129071; Homo sapiens.

Ontologies

GO:0005634;	Cellular component: nucleus (traceable author statement from ProtInc).
GO:0004520;	Molecular function: endodeoxyribonuclease activity (traceable author statement from ProtInc).
GO:0005515;	Molecular function: protein binding (inferred from physical interaction from IntAct).
GO:0003696;	Molecular function: satellite DNA binding (traceable author statement from ProtInc).
GO:0045008;	Biological process: depyrimidination (inferred from experiment from Reactome).
QuickGo view.

Family and domain databases

InterPro

IPR003265; Endo_3c.
IPR017352; Methyl_CpG-bd_MBD4.
IPR001739; Methyl_CpG_DNA-bd.
Graphical view of domain structure.

Gene3D

G3DSA:3.30.890.10; Methyl_CpG_DNA-bd; 1.

Pfam

PF00730; HhH-GPD; 1.
PF01429; MBD; 1.
Pfam graphical view of domain structure.

PIRSF

PIRSF038005; Methyl_CpG_bd_MBD4; 1.

SMART

SM00391; MBD; 1.
SMART graphical view of domain structure.

PROSITE

PS50982; MBD; 1.
PROSITE graphical view of domain structure (profiles).

Proteomics databases

PRIDE

O95243; -.

Genome annotation databases

Ensembl

ENSG00000129071; Homo sapiens. [Contig view]

GeneID

8930; -.

KEGG

hsa:8930; -.

Phylogenomic databases

HOGENOM

O95243; -.

HOVERGEN

O95243; -.

Other

33578; -.

MBD4; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Alternative splicing; DNA damage; DNA repair; DNA-binding; Hydrolase; Nucleus; Polymorphism.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 580`	`580`	`Methyl-CpG-binding domain protein 4.`	`PRO_0000096264`
`DOMAIN`	`76 148`	`73`	`MBD.`
`ACT_SITE`	`560 560`		`By similarity.`
`VAR_SEQ`	`395 400`		`Missing (in isoform 2).`	`VSP_010816`
`VAR_SEQ`	`539 540`		`KY -> AP (in isoform 3).`	`VSP_010817`
`VAR_SEQ`	`541 580`		`Missing (in isoform 3).`	`VSP_010818`
`VARIANT`	`61 61`	`1`	`C -> R (in dbSNP:rs2307296 [NCBI]).`	`VAR_029306`
`VARIANT`	`273 273`	`1`	`A -> S (in dbSNP:rs10342 [NCBI]).`	`VAR_019357`
`VARIANT`	`273 273`	`1`	`A -> T (in dbSNP:rs10342 [NCBI]).`	`VAR_019514`
`VARIANT`	`342 342`	`1`	`S -> P (in dbSNP:rs2307289 [NCBI]).`	`VAR_019358`
`VARIANT`	`346 346`	`1`	`E -> K (in dbSNP:rs140693 [NCBI]).`	`VAR_019359`
`VARIANT`	`358 358`	`1`	`I -> T (in dbSNP:rs2307298 [NCBI]).`	`VAR_019515`
`VARIANT`	`568 568`	`1`	`D -> H (in dbSNP:rs2307293 [NCBI]).`	`VAR_019360`

Sequence information

Length: 580 AA [This is the length of the unprocessed precursor]

Molecular weight: 66051 Da [This is the MW of the unprocessed precursor]

CRC64: BF16FB21A34B8E5F [This is a checksum on the sequence]

        10         20         30         40         50         60 
MGTTGLESLS LGDRGAAPTV TSSERLVPDP PNDLRKEDVA MELERVGEDE EQMMIKRSSE 

        70         80         90        100        110        120 
CNPLLQEPIA SAQFGATAGT ECRKSVPCGW ERVVKQRLFG KTAGRFDVYF ISPQGLKFRS 

       130        140        150        160        170        180 
KSSLANYLHK NGETSLKPED FDFTVLSKRG IKSRYKDCSM AALTSHLQNQ SNNSNWNLRT 

       190        200        210        220        230        240 
RSKCKKDVFM PPSSSSELQE SRGLSNFTST HLLLKEDEGV DDVNFRKVRK PKGKVTILKG 

       250        260        270        280        290        300 
IPIKKTKKGC RKSCSGFVQS DSKRESVCNK ADAESEPVAQ KSQLDRTVCI SDAGACGETL 

       310        320        330        340        350        360 
SVTSEENSLV KKKERSLSSG SNFCSEQKTS GIINKFCSAK DSEHNEKYED TFLESEEIGT 

       370        380        390        400        410        420 
KVEVVERKEH LHTDILKRGS EMDNNCSPTR KDFTGEKIFQ EDTIPRTQIE RRKTSLYFSS 

       430        440        450        460        470        480 
KYNKEALSPP RRKAFKKWTP PRSPFNLVQE TLFHDPWKLL IATIFLNRTS GKMAIPVLWK 

       490        500        510        520        530        540 
FLEKYPSAEV ARTADWRDVS ELLKPLGLYD LRAKTIVKFS DEYLTKQWKY PIELHGIGKY 

       550        560        570        580 
GNDSYRIFCV NEWKQVHPED HKLNKYHDWL WENHEKLSLS

O95243 in FASTA format

View entry in original UniProtKB/Swiss-Prot format
View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools