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Entry version 144 (13 Feb 2019)
Sequence version 3 (18 May 2010)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5689603 UCH proteinases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Methyl-CpG-binding domain protein 5
Alternative name(s):
Methyl-CpG-binding protein MBD5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MBD5
Synonyms:KIAA1461
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000204406.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20444 MBD5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611472 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9P267

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Chromosome, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mental retardation, autosomal dominant 1 (MRD1)2 Publications
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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_037561144T → I in MRD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_037562461R → H in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139964770EnsemblClinVar.1
Natural variantiVAR_037563654D → E in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139953766EnsemblClinVar.1
Natural variantiVAR_037564655A → T in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs576930680EnsemblClinVar.1
Natural variantiVAR_037566857A → T in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs769330358Ensembl.1
Natural variantiVAR_0375671048T → I in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs145475623EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi39P → A: Shows diffuse nuclear pattern. 1 Publication1
Mutagenesisi1399 – 1400WP → AA: Shows diffuse nuclear pattern. 1 Publication2

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55777

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
MBD5

MalaCards human disease database

More...
MalaCardsi
MBD5
MIMi156200 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000204406

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
228402 2q23.1 microdeletion syndrome
178469 Autosomal dominant non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134924244

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MBD5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439306

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000962661 – 1494Methyl-CpG-binding domain protein 5Add BLAST1494

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9P267

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9P267

PeptideAtlas

More...
PeptideAtlasi
Q9P267

PRoteomics IDEntifications database

More...
PRIDEi
Q9P267

ProteomicsDB human proteome resource

More...
ProteomicsDBi
83738
83739 [Q9P267-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9P267

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9P267

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000204406 Expressed in 197 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9P267 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9P267 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA035964

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120892, 25 interactors

Protein interaction database and analysis system

More...
IntActi
Q9P267, 18 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000386049

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9P267

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9P267

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini11 – 81MBDPROSITE-ProRule annotationAdd BLAST71
Domaini1385 – 1447PWWPPROSITE-ProRule annotationAdd BLAST63

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi332 – 414Pro-richAdd BLAST83
Compositional biasi599 – 605Poly-Ser7
Compositional biasi980 – 984Poly-Gln5

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Both MBD and PWWP domains are necessary for chromocentric localization.

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IGJZ Eukaryota
ENOG410XR1J LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000064137

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000049255

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG052419

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9P267

Database of Orthologous Groups

More...
OrthoDBi
14978at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9P267

TreeFam database of animal gene trees

More...
TreeFami
TF106391

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016177 DNA-bd_dom_sf
IPR037385 MBD5/MBD6
IPR001739 Methyl_CpG_DNA-bd
IPR000313 PWWP_dom

The PANTHER Classification System

More...
PANTHERi
PTHR16112 PTHR16112, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00855 PWWP, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00391 MBD, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54171 SSF54171, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50982 MBD, 1 hit
PS50812 PWWP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 '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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PHH0E9PHH0_HUMAN
Methyl-CpG-binding domain protein 5
MBD5
1,727Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GW10A0A1B0GW10_HUMAN
Methyl-CpG-binding domain protein 5
MBD5
1,507Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SG23A0A0D9SG23_HUMAN
Methyl-CpG-binding domain protein 5
MBD5
1,086Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SF16A0A0D9SF16_HUMAN
Methyl-CpG-binding domain protein 5
MBD5
910Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C066H7C066_HUMAN
Methyl-CpG-binding domain protein 5
MBD5
1,064Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SEP6A0A0D9SEP6_HUMAN
Methyl-CpG-binding domain protein 5
MBD5
77Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUJ9A0A1B0GUJ9_HUMAN
Methyl-CpG-binding domain protein 5
MBD5
38Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 MRD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_037562461R → H in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139964770EnsemblClinVar.1
Natural variantiVAR_037563654D → E in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139953766EnsemblClinVar.1
Natural variantiVAR_037564655A → T in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs576930680EnsemblClinVar.1
Natural variantiVAR_037565677S → N1 PublicationCorresponds to variant dbSNP:rs114314967EnsemblClinVar.1
Natural variantiVAR_037566857A → T in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs769330358Ensembl.1
Natural variantiVAR_0375671048T → I in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs145475623EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS33302.1 [Q9P267-1]

NCBI Reference Sequences

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RefSeqi
NP_060798.2, NM_018328.4 [Q9P267-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.458312

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000407073; ENSP00000386049; ENSG00000204406 [Q9P267-1]
ENST00000627651; ENSP00000486370; ENSG00000204406 [Q9P267-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55777

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55777

UCSC genome browser

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UCSCi
uc002twm.5 human [Q9P267-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 25 interactors
IntActiQ9P267, 18 interactors
STRINGi9606.ENSP00000386049

PTM databases

iPTMnetiQ9P267
PhosphoSitePlusiQ9P267

Polymorphism and mutation databases

BioMutaiMBD5
DMDMi296439306

Proteomic databases

jPOSTiQ9P267
PaxDbiQ9P267
PeptideAtlasiQ9P267
PRIDEiQ9P267
ProteomicsDBi83738
83739 [Q9P267-2]

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

Comparative Toxicogenomics Database

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CTDi
55777
DisGeNETi55777
EuPathDBiHostDB:ENSG00000204406.11

GeneCards: human genes, protein and diseases

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GeneCardsi
MBD5
GeneReviewsiMBD5

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0002494
HGNCiHGNC:20444 MBD5
HPAiHPA035964
MalaCardsiMBD5
MIMi156200 phenotype
611472 gene
neXtProtiNX_Q9P267
OpenTargetsiENSG00000204406
Orphaneti228402 2q23.1 microdeletion syndrome
178469 Autosomal dominant non-syndromic intellectual disability
PharmGKBiPA134924244

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGJZ Eukaryota
ENOG410XR1J LUCA
GeneTreeiENSGT00530000064137
HOGENOMiHOG000049255
HOVERGENiHBG052419
InParanoidiQ9P267
OrthoDBi14978at2759
PhylomeDBiQ9P267
TreeFamiTF106391

Enzyme and pathway databases

ReactomeiR-HSA-5689603 UCH proteinases

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MBD5 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
55777

Protein Ontology

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PROi
PR:Q9P267

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000204406 Expressed in 197 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ9P267 baseline and differential
GenevisibleiQ9P267 HS

Family and domain databases

InterProiView protein in InterPro
IPR016177 DNA-bd_dom_sf
IPR037385 MBD5/MBD6
IPR001739 Methyl_CpG_DNA-bd
IPR000313 PWWP_dom
PANTHERiPTHR16112 PTHR16112, 1 hit
PfamiView protein in Pfam
PF00855 PWWP, 1 hit
SMARTiView protein in SMART
SM00391 MBD, 1 hit
SUPFAMiSSF54171 SSF54171, 1 hit
PROSITEiView protein in PROSITE
PS50982 MBD, 1 hit
PS50812 PWWP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMBD5_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9P267
Secondary accession number(s): A5HMQ4
, A7E2B1, Q53SR1, Q9NUV6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: May 18, 2010
Last modified: February 13, 2019
This is version 144 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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