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Protein

Methyl-CpG-binding domain protein 5

Gene

MBD5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro).

GO - Molecular functioni

  • chromatin binding Source: UniProtKB

GO - Biological processi

  • glucose homeostasis Source: UniProtKB
  • nervous system development Source: UniProtKB
  • positive regulation of growth hormone receptor signaling pathway Source: UniProtKB
  • regulation of multicellular organism growth Source: UniProtKB
  • single-organism behavior Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-32343-MONOMER.
ReactomeiR-HSA-5689603. UCH proteinases.

Names & Taxonomyi

Protein namesi
Recommended name:
Methyl-CpG-binding domain protein 5
Alternative name(s):
Methyl-CpG-binding protein MBD5
Gene namesi
Name:MBD5
Synonyms:KIAA1461
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:20444. MBD5.

Subcellular locationi

Isoform 1 :
Isoform 2 :
  • Nucleus

  • Note: Not associated with pericentric heterochromatin.

GO - Cellular componenti

  • chromocenter Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 1 (MRD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:156200

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi39P → A: Shows diffuse nuclear pattern. 1 Publication1
Mutagenesisi1399 – 1400WP → AA: Shows diffuse nuclear pattern. 1 Publication2

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi55777.
MalaCardsiMBD5.
MIMi156200. phenotype.
OpenTargetsiENSG00000204406.
Orphaneti228402. 2q23.1 microdeletion syndrome.
178469. Autosomal dominant non-syndromic intellectual disability.
PharmGKBiPA134924244.

Polymorphism and mutation databases

BioMutaiMBD5.
DMDMi296439306.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000962661 – 1494Methyl-CpG-binding domain protein 5Add BLAST1494

Proteomic databases

PaxDbiQ9P267.
PeptideAtlasiQ9P267.
PRIDEiQ9P267.

PTM databases

iPTMnetiQ9P267.
PhosphoSitePlusiQ9P267.

Expressioni

Tissue specificityi

Detected in heart, placenta, liver, skeletal muscle, kidney and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000204406.
CleanExiHS_MBD5.
ExpressionAtlasiQ9P267. baseline and differential.
GenevisibleiQ9P267. HS.

Organism-specific databases

HPAiHPA035965.

Interactioni

Protein-protein interaction databases

BioGridi120892. 18 interactors.
IntActiQ9P267. 14 interactors.
MINTiMINT-4654914.
STRINGi9606.ENSP00000386049.

Structurei

3D structure databases

ProteinModelPortaliQ9P267.
SMRiQ9P267.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini11 – 81MBDPROSITE-ProRule annotationAdd BLAST71
Domaini1385 – 1447PWWPPROSITE-ProRule annotationAdd BLAST63

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi332 – 414Pro-richAdd BLAST83
Compositional biasi599 – 605Poly-Ser7
Compositional biasi980 – 984Poly-Gln5

Domaini

Both MBD and PWWP domains are necessary for chromocentric localization.

Sequence similaritiesi

Contains 1 MBD (methyl-CpG-binding) domain.PROSITE-ProRule annotation
Contains 1 PWWP domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IGJZ. Eukaryota.
ENOG410XR1J. LUCA.
GeneTreeiENSGT00530000064137.
HOGENOMiHOG000049255.
HOVERGENiHBG052419.
InParanoidiQ9P267.
PhylomeDBiQ9P267.
TreeFamiTF106391.

Family and domain databases

InterProiIPR016177. DNA-bd_dom.
IPR001739. Methyl_CpG_DNA-bd.
IPR000313. PWWP_dom.
[Graphical view]
PfamiPF00855. PWWP. 1 hit.
[Graphical view]
SMARTiSM00391. MBD. 1 hit.
[Graphical view]
SUPFAMiSSF54171. SSF54171. 1 hit.
PROSITEiPS50982. MBD. 1 hit.
PS50812. PWWP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9P267-1) [UniParc]FASTAAdd to basket

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
MNGGKECDGG DKEGGLPAIQ VPVGWQRRVD QNGVLYVSPS GSLLSCLEQV
60 70 80 90 100
KTYLLTDGTC KCGLECPLIL PKVFNFDPGA AVKQRTAEDV KADEDVTKLC
110 120 130 140 150
IHKRKIIAVA TLHKSMEAPH PSLVLTSPGG GTNATPVVPS RAATPRSVRN
160 170 180 190 200
KSHEGITNSV MPECKNPFKL MIGSSNAMGR LYVQELPGSQ QQELHPVYPR
210 220 230 240 250
QRLGSSEHGQ KSPFRGSHGG LPSPASSGSQ IYGDGSISPR TDPLGSPDVF
260 270 280 290 300
TRSNPGFHGA PNSSPIHLNR TPLSPPSVML HGSPVQSSCA MAGRTNIPLS
310 320 330 340 350
PTLTTKSPVM KKPMCNFSTN MEIPRAMFHH KPPQGPPPPP PPSCALQKKP
360 370 380 390 400
LTSEKDPLGI LDPIPSKPVN QNPVIINPTS FHSNVHSQVP MMNVSMPPAV
410 420 430 440 450
VPLPSNLPLP TVKPGHMNHG SHVQRVQHSA STSLSPSPVT SPVHMMGTGI
460 470 480 490 500
GRIEASPQRS RSSSTSSDHG NFMMPPVGPQ ATSSGIKVPP RSPRSTIGSP
510 520 530 540 550
RPSMPSSPST KSDGHHQYKD IPNPLIAGIS NVLNTPSSAA FPTASAGSSS
560 570 580 590 600
VKSQPGLLGM PLNQILNQHN AASFPASSLL SAAAKAQLAN QNKLAGNNSS
610 620 630 640 650
SSSNSGAVAG SGNTEGHSTL NTMFPPTANM LLPTGEGQSG RAALRDKLMS
660 670 680 690 700
QQKDALRKRK QPPTTVLSLL RQSQMDSSAV PKPGPDLLRK QGQGSFPISS
710 720 730 740 750
MSQLLQSMSC QSSHLSSNST PGCGASNTAL PCSANQLHFT DPSMNSSVLQ
760 770 780 790 800
NIPLRGEAVH CHNANTNFVH SNSPVPNHHL AGLINQIQAS GNCGMLSQSG
810 820 830 840 850
MALGNSLHPN PPQSRISTSS TPVIPNSIVS SYNQTSSEAG GSGPSSSIAI
860 870 880 890 900
AGTNHPAITK TTSVLQDGVI VTTAAGNPLQ SQLPIGSDFP FVGQEHALHF
910 920 930 940 950
PSNSTSNNHL PHPLNPSLLS SLPISLPVNQ QHLLNQNLLN ILQPSAGEGD
960 970 980 990 1000
MSSINNTLSN HQLTHLQSLL NNNQMFPPNQ QQQQLLQGYQ NLQAFQGQST
1010 1020 1030 1040 1050
IPCPANNNPM ACLFQNFQVR MQEDAALLNK RISTQPGLTA LPENPNTTLP
1060 1070 1080 1090 1100
PFQDTPCELQ PRIDPSLGQQ VKDGLVVGGP GDASVDAIYK AVVDAASKGM
1110 1120 1130 1140 1150
QVVITTAVNS TTQISPIPAL SAMSAFTASI GDPLNLSSAV SAVIHGRNMG
1160 1170 1180 1190 1200
GVDHDGRLRN SRGARLPKNL DHGKNVNEGD GFEYFKSASC HTSKKQWDGE
1210 1220 1230 1240 1250
QSPRGERNRW KYEEFLDHPG HIHSSPCHER PNNVSTLPFL PGEQHPILLP
1260 1270 1280 1290 1300
PRNCPGDKIL EENFRYNNYK RTMMSFKERL ENTVERCAHI NGNRPRQSRG
1310 1320 1330 1340 1350
FGELLSTAKQ DLVLEEQSPS SSNSLENSLV KDYIHYNGDF NAKSVNGCVP
1360 1370 1380 1390 1400
SPSDAKSISS EDDLRNPDSP SSNELIHYRP RTFNVGDLVW GQIKGLTSWP
1410 1420 1430 1440 1450
GKLVREDDVH NSCQQSPEEG KVEPEKLKTL TEGLEAYSRV RKRNRKSGKL
1460 1470 1480 1490
NNHLEAAIHE AMSELDKMSG TVHQIPQGDR QMRPPKPKRR KISR
Length:1,494
Mass (Da):159,895
Last modified:May 18, 2010 - v3
Checksum:iE323E9F6D861E7E9
GO
Isoform 2 (identifier: Q9P267-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     841-851: GSGPSSSIAIA → MVLLEKSTQRY
     852-1494: Missing.

Show »
Length:851
Mass (Da):89,418
Checksum:i5FF7E558F201F734
GO

Sequence cautioni

The sequence BAA92013 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA95985 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1020R → I in BAA95985 (PubMed:10819331).Curated1
Sequence conflicti1020R → I in AAI50265 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037561144T → I in a patient with mental retardation; unknown pathological significance. 1 Publication1
Natural variantiVAR_037562461R → H in two patients with mental retardation; unknown pathological significance. 1 PublicationCorresponds to variant rs139964770dbSNPEnsembl.1
Natural variantiVAR_037563654D → E in a patient with mental retardation; unknown pathological significance. 1 Publication1
Natural variantiVAR_037564655A → T in a patient with mental retardation; unknown pathological significance. 1 PublicationCorresponds to variant rs576930680dbSNPEnsembl.1
Natural variantiVAR_037565677S → N.1 PublicationCorresponds to variant rs114314967dbSNPEnsembl.1
Natural variantiVAR_037566857A → T in a patient with mental retardation; unknown pathological significance. 1 PublicationCorresponds to variant rs769330358dbSNPEnsembl.1
Natural variantiVAR_0375671048T → I in a patient with mental retardation; unknown pathological significance. 1 PublicationCorresponds to variant rs145475623dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011083841 – 851GSGPSSSIAIA → MVLLEKSTQRY in isoform 2. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_011084852 – 1494Missing in isoform 2. 2 PublicationsAdd BLAST643

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EF542797 mRNA. Translation: ABQ18300.1.
AB040894 mRNA. Translation: BAA95985.1. Different initiation.
AC016731 Genomic DNA. Translation: AAY14912.1.
CH471058 Genomic DNA. Translation: EAX11552.1.
BC014534 mRNA. No translation available.
BC150264 mRNA. Translation: AAI50265.1.
AK001975 mRNA. Translation: BAA92013.1. Different initiation.
CCDSiCCDS33302.1. [Q9P267-1]
RefSeqiNP_060798.2. NM_018328.4. [Q9P267-1]
UniGeneiHs.458312.

Genome annotation databases

EnsembliENST00000407073; ENSP00000386049; ENSG00000204406. [Q9P267-1]
ENST00000627651; ENSP00000486370; ENSG00000204406. [Q9P267-2]
GeneIDi55777.
KEGGihsa:55777.
UCSCiuc002twm.5. human. [Q9P267-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EF542797 mRNA. Translation: ABQ18300.1.
AB040894 mRNA. Translation: BAA95985.1. Different initiation.
AC016731 Genomic DNA. Translation: AAY14912.1.
CH471058 Genomic DNA. Translation: EAX11552.1.
BC014534 mRNA. No translation available.
BC150264 mRNA. Translation: AAI50265.1.
AK001975 mRNA. Translation: BAA92013.1. Different initiation.
CCDSiCCDS33302.1. [Q9P267-1]
RefSeqiNP_060798.2. NM_018328.4. [Q9P267-1]
UniGeneiHs.458312.

3D structure databases

ProteinModelPortaliQ9P267.
SMRiQ9P267.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120892. 18 interactors.
IntActiQ9P267. 14 interactors.
MINTiMINT-4654914.
STRINGi9606.ENSP00000386049.

PTM databases

iPTMnetiQ9P267.
PhosphoSitePlusiQ9P267.

Polymorphism and mutation databases

BioMutaiMBD5.
DMDMi296439306.

Proteomic databases

PaxDbiQ9P267.
PeptideAtlasiQ9P267.
PRIDEiQ9P267.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000407073; ENSP00000386049; ENSG00000204406. [Q9P267-1]
ENST00000627651; ENSP00000486370; ENSG00000204406. [Q9P267-2]
GeneIDi55777.
KEGGihsa:55777.
UCSCiuc002twm.5. human. [Q9P267-1]

Organism-specific databases

CTDi55777.
DisGeNETi55777.
GeneCardsiMBD5.
H-InvDBHIX0002494.
HGNCiHGNC:20444. MBD5.
HPAiHPA035965.
MalaCardsiMBD5.
MIMi156200. phenotype.
611472. gene.
neXtProtiNX_Q9P267.
OpenTargetsiENSG00000204406.
Orphaneti228402. 2q23.1 microdeletion syndrome.
178469. Autosomal dominant non-syndromic intellectual disability.
PharmGKBiPA134924244.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGJZ. Eukaryota.
ENOG410XR1J. LUCA.
GeneTreeiENSGT00530000064137.
HOGENOMiHOG000049255.
HOVERGENiHBG052419.
InParanoidiQ9P267.
PhylomeDBiQ9P267.
TreeFamiTF106391.

Enzyme and pathway databases

BioCyciZFISH:G66-32343-MONOMER.
ReactomeiR-HSA-5689603. UCH proteinases.

Miscellaneous databases

ChiTaRSiMBD5. human.
GenomeRNAii55777.
PROiQ9P267.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204406.
CleanExiHS_MBD5.
ExpressionAtlasiQ9P267. baseline and differential.
GenevisibleiQ9P267. HS.

Family and domain databases

InterProiIPR016177. DNA-bd_dom.
IPR001739. Methyl_CpG_DNA-bd.
IPR000313. PWWP_dom.
[Graphical view]
PfamiPF00855. PWWP. 1 hit.
[Graphical view]
SMARTiSM00391. MBD. 1 hit.
[Graphical view]
SUPFAMiSSF54171. SSF54171. 1 hit.
PROSITEiPS50982. MBD. 1 hit.
PS50812. PWWP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMBD5_HUMAN
AccessioniPrimary (citable) accession number: Q9P267
Secondary accession number(s): A5HMQ4
, A7E2B1, Q53SR1, Q9NUV6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 128 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. 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.