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UniProtKB - Q9P267 (MBD5_HUMAN)
Protein
Methyl-CpG-binding domain protein 5
Gene
MBD5
Organism
Homo sapiens (Human)
Status
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 behavior Source: UniProtKB
- regulation of multicellular organism growth Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9P267 |
Reactomei | R-HSA-5689603, UCH proteinases |
SignaLinki | Q9P267 |
SIGNORi | Q9P267 |
Names & Taxonomyi
Protein namesi | Recommended name: Methyl-CpG-binding domain protein 5Alternative name(s): Methyl-CpG-binding protein MBD5 |
Gene namesi | Name:MBD5 Synonyms:KIAA1461 |
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:20444, MBD5 |
MIMi | 611472, gene |
neXtProti | NX_Q9P267 |
VEuPathDBi | HostDB:ENSG00000204406 |
Subcellular locationi
Nucleus
Other locations
Note: Associated with pericentric heterochromatin.
Nucleus
Note: Not associated with pericentric heterochromatin.
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- chromocenter Source: UniProtKB
- chromosome Source: UniProtKB-SubCell
- midbody Source: HPA
Keywords - Cellular componenti
Chromosome, NucleusPathology & Biotechi
Involvement in diseasei
Mental retardation, autosomal dominant 1 (MRD1)2 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037561 | 144 | T → I in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553518402EnsemblClinVar. | 1 | |
Natural variantiVAR_037562 | 461 | R → H in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139964770EnsemblClinVar. | 1 | |
Natural variantiVAR_037563 | 654 | D → E in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139953766EnsemblClinVar. | 1 | |
Natural variantiVAR_037564 | 655 | A → T in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs576930680EnsemblClinVar. | 1 | |
Natural variantiVAR_037566 | 857 | A → T in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs769330358EnsemblClinVar. | 1 | |
Natural variantiVAR_037567 | 1048 | T → I in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs145475623Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 39 | P → A: Shows diffuse nuclear pattern. 1 Publication | 1 | |
Mutagenesisi | 1399 – 1400 | WP → AA: Shows diffuse nuclear pattern. 1 Publication | 2 |
Keywords - Diseasei
Mental retardationOrganism-specific databases
DisGeNETi | 55777 |
GeneReviewsi | MBD5 |
MalaCardsi | MBD5 |
MIMi | 156200, phenotype |
OpenTargetsi | ENSG00000204406 |
Orphaneti | 228402, 2q23.1 microdeletion syndrome 178469, Autosomal dominant non-syndromic intellectual disability |
PharmGKBi | PA134924244 |
Miscellaneous databases
Pharosi | Q9P267, Tbio |
Genetic variation databases
BioMutai | MBD5 |
DMDMi | 296439306 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000096266 | 1 – 1494 | Methyl-CpG-binding domain protein 5Add BLAST | 1494 |
Proteomic databases
jPOSTi | Q9P267 |
MassIVEi | Q9P267 |
PaxDbi | Q9P267 |
PeptideAtlasi | Q9P267 |
PRIDEi | Q9P267 |
ProteomicsDBi | 83738 [Q9P267-1] 83739 [Q9P267-2] |
PTM databases
iPTMneti | Q9P267 |
PhosphoSitePlusi | Q9P267 |
Expressioni
Tissue specificityi
Detected in heart, placenta, liver, skeletal muscle, kidney and pancreas.1 Publication
Gene expression databases
Bgeei | ENSG00000204406, Expressed in corpus callosum and 209 other tissues |
ExpressionAtlasi | Q9P267, baseline and differential |
Genevisiblei | Q9P267, HS |
Organism-specific databases
HPAi | ENSG00000204406, Low tissue specificity |
Interactioni
Binary interactionsi
Isoform 2 [Q9P267-2]
With | #Exp. | IntAct |
---|---|---|
SS18L2 [Q9UHA2] | 3 | EBI-17671489,EBI-10962400 |
ZNF76 [P36508] | 3 | EBI-17671489,EBI-7254550 |
Protein-protein interaction databases
BioGRIDi | 120892, 29 interactors |
IntActi | Q9P267, 30 interactors |
STRINGi | 9606.ENSP00000386049 |
Miscellaneous databases
RNActi | Q9P267, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q9P267 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 11 – 81 | MBDPROSITE-ProRule annotationAdd BLAST | 71 | |
Domaini | 1385 – 1447 | PWWPPROSITE-ProRule annotationAdd BLAST | 63 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 123 – 152 | DisorderedSequence analysisAdd BLAST | 30 | |
Regioni | 200 – 274 | DisorderedSequence analysisAdd BLAST | 75 | |
Regioni | 329 – 350 | DisorderedSequence analysisAdd BLAST | 22 | |
Regioni | 450 – 522 | DisorderedSequence analysisAdd BLAST | 73 | |
Regioni | 594 – 641 | DisorderedSequence analysisAdd BLAST | 48 | |
Regioni | 809 – 848 | DisorderedSequence analysisAdd BLAST | 40 | |
Regioni | 1154 – 1173 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 1345 – 1375 | DisorderedSequence analysisAdd BLAST | 31 | |
Regioni | 1468 – 1494 | DisorderedSequence analysisAdd BLAST | 27 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 126 – 140 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 222 – 236 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 256 – 271 | Polar residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 330 – 346 | Pro residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 455 – 471 | Polar residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 497 – 512 | Polar residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 594 – 634 | Polar residuesSequence analysisAdd BLAST | 41 |
Domaini
Both MBD and PWWP domains are necessary for chromocentric localization.
Phylogenomic databases
eggNOGi | ENOG502QTC7, Eukaryota |
GeneTreei | ENSGT00530000064137 |
HOGENOMi | CLU_003105_0_0_1 |
InParanoidi | Q9P267 |
PhylomeDBi | Q9P267 |
TreeFami | TF106391 |
Family and domain databases
InterProi | View protein in InterPro IPR016177, DNA-bd_dom_sf IPR037385, MBD5/MBD6 IPR001739, Methyl_CpG_DNA-bd IPR000313, PWWP_dom |
PANTHERi | PTHR16112, PTHR16112, 1 hit |
SMARTi | View protein in SMART SM00391, MBD, 1 hit |
SUPFAMi | SSF54171, SSF54171, 1 hit |
PROSITEi | View protein in PROSITE PS50982, MBD, 1 hit PS50812, PWWP, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9P267-1) [UniParc]FASTAAdd to basket
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
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
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1B0GW10 | A0A1B0GW10_HUMAN | Methyl-CpG-binding domain protein 5 | MBD5 | 1,507 | Annotation score: | ||
A0A2R8YDL9 | A0A2R8YDL9_HUMAN | Methyl-CpG-binding domain protein 5 | MBD5 | 1,727 | Annotation score: | ||
A0A0D9SG23 | A0A0D9SG23_HUMAN | Methyl-CpG-binding domain protein 5 | MBD5 | 1,086 | Annotation score: | ||
A0A0D9SF16 | A0A0D9SF16_HUMAN | Methyl-CpG-binding domain protein 5 | MBD5 | 910 | Annotation score: | ||
H7C066 | H7C066_HUMAN | Methyl-CpG-binding domain protein 5 | MBD5 | 1,064 | Annotation score: | ||
A0A0D9SEP6 | A0A0D9SEP6_HUMAN | Methyl-CpG-binding domain protein 5 | MBD5 | 77 | Annotation score: | ||
A0A1B0GUJ9 | A0A1B0GUJ9_HUMAN | Methyl-CpG-binding domain protein 5 | MBD5 | 38 | Annotation score: |
Sequence cautioni
The sequence BAA92013 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA95985 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1020 | R → I in BAA95985 (PubMed:10819331).Curated | 1 | |
Sequence conflicti | 1020 | R → I in AAI50265 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037561 | 144 | T → I in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553518402EnsemblClinVar. | 1 | |
Natural variantiVAR_037562 | 461 | R → H in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139964770EnsemblClinVar. | 1 | |
Natural variantiVAR_037563 | 654 | D → E in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139953766EnsemblClinVar. | 1 | |
Natural variantiVAR_037564 | 655 | A → T in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs576930680EnsemblClinVar. | 1 | |
Natural variantiVAR_037565 | 677 | S → N1 PublicationCorresponds to variant dbSNP:rs114314967EnsemblClinVar. | 1 | |
Natural variantiVAR_037566 | 857 | A → T in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs769330358EnsemblClinVar. | 1 | |
Natural variantiVAR_037567 | 1048 | T → I in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs145475623Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_011083 | 841 – 851 | GSGPSSSIAIA → MVLLEKSTQRY in isoform 2. 2 PublicationsAdd BLAST | 11 | |
Alternative sequenceiVSP_011084 | 852 – 1494 | Missing in isoform 2. 2 PublicationsAdd BLAST | 643 |
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. |
CCDSi | CCDS33302.1 [Q9P267-1] |
RefSeqi | NP_060798.2, NM_018328.4 [Q9P267-1] |
Genome annotation databases
Ensembli | ENST00000407073.5; ENSP00000386049.1; ENSG00000204406.14 ENST00000627651.2; ENSP00000486370.1; ENSG00000204406.14 [Q9P267-2] |
GeneIDi | 55777 |
KEGGi | hsa:55777 |
UCSCi | uc002twm.5, human [Q9P267-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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. |
CCDSi | CCDS33302.1 [Q9P267-1] |
RefSeqi | NP_060798.2, NM_018328.4 [Q9P267-1] |
3D structure databases
AlphaFoldDBi | Q9P267 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 120892, 29 interactors |
IntActi | Q9P267, 30 interactors |
STRINGi | 9606.ENSP00000386049 |
PTM databases
iPTMneti | Q9P267 |
PhosphoSitePlusi | Q9P267 |
Genetic variation databases
BioMutai | MBD5 |
DMDMi | 296439306 |
Proteomic databases
jPOSTi | Q9P267 |
MassIVEi | Q9P267 |
PaxDbi | Q9P267 |
PeptideAtlasi | Q9P267 |
PRIDEi | Q9P267 |
ProteomicsDBi | 83738 [Q9P267-1] 83739 [Q9P267-2] |
Protocols and materials databases
Antibodypediai | 33627, 114 antibodies from 19 providers |
DNASUi | 55777 |
Genome annotation databases
Ensembli | ENST00000407073.5; ENSP00000386049.1; ENSG00000204406.14 ENST00000627651.2; ENSP00000486370.1; ENSG00000204406.14 [Q9P267-2] |
GeneIDi | 55777 |
KEGGi | hsa:55777 |
UCSCi | uc002twm.5, human [Q9P267-1] |
Organism-specific databases
CTDi | 55777 |
DisGeNETi | 55777 |
GeneCardsi | MBD5 |
GeneReviewsi | MBD5 |
HGNCi | HGNC:20444, MBD5 |
HPAi | ENSG00000204406, Low tissue specificity |
MalaCardsi | MBD5 |
MIMi | 156200, phenotype 611472, gene |
neXtProti | NX_Q9P267 |
OpenTargetsi | ENSG00000204406 |
Orphaneti | 228402, 2q23.1 microdeletion syndrome 178469, Autosomal dominant non-syndromic intellectual disability |
PharmGKBi | PA134924244 |
VEuPathDBi | HostDB:ENSG00000204406 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QTC7, Eukaryota |
GeneTreei | ENSGT00530000064137 |
HOGENOMi | CLU_003105_0_0_1 |
InParanoidi | Q9P267 |
PhylomeDBi | Q9P267 |
TreeFami | TF106391 |
Enzyme and pathway databases
PathwayCommonsi | Q9P267 |
Reactomei | R-HSA-5689603, UCH proteinases |
SignaLinki | Q9P267 |
SIGNORi | Q9P267 |
Miscellaneous databases
BioGRID-ORCSi | 55777, 3 hits in 1072 CRISPR screens |
ChiTaRSi | MBD5, human |
GenomeRNAii | 55777 |
Pharosi | Q9P267, Tbio |
PROi | PR:Q9P267 |
RNActi | Q9P267, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000204406, Expressed in corpus callosum and 209 other tissues |
ExpressionAtlasi | Q9P267, baseline and differential |
Genevisiblei | Q9P267, HS |
Family and domain databases
InterProi | View protein in InterPro IPR016177, DNA-bd_dom_sf IPR037385, MBD5/MBD6 IPR001739, Methyl_CpG_DNA-bd IPR000313, PWWP_dom |
PANTHERi | PTHR16112, PTHR16112, 1 hit |
SMARTi | View protein in SMART SM00391, MBD, 1 hit |
SUPFAMi | SSF54171, SSF54171, 1 hit |
PROSITEi | View protein in PROSITE PS50982, MBD, 1 hit PS50812, PWWP, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MBD5_HUMAN | |
Accessioni | Q9P267Primary (citable) accession number: Q9P267 Secondary accession number(s): A5HMQ4 Q9NUV6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 19, 2004 |
Last sequence update: | May 18, 2010 | |
Last modified: | May 25, 2022 | |
This is version 162 of the entry and version 3 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
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: 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