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UniProtKB - Q9P267 (MBD5_HUMAN)

Entry version 162 (25 May 2022)
Sequence version 3 (18 May 2010)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9P267

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9P267

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9P267

<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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000204406

<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

<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 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 OMIM
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 PublicationCorresponds to variant dbSNP:rs1553518402EnsemblClinVar.1
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:rs769330358EnsemblClinVar.1
Natural variantiVAR_0375671048T → I in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs145475623Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9P267, Tbio

Genetic variation 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 or proteolytic cleavage.<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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		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: a multi-organism proteome resource

More...ProteomicsDBi		83738 [Q9P267-1]
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 corpus callosum and 209 other tissues

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		ENSG00000204406, Low tissue specificity

<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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120892, 29 interactors

Protein interaction database and analysis system

More...IntActi		Q9P267, 30 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000386049

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9P267, protein

<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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q9P267

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

<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%5Fand%5Fdomains%5Fsection">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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni123 – 152DisorderedSequence analysisAdd BLAST30
Regioni200 – 274DisorderedSequence analysisAdd BLAST75
Regioni329 – 350DisorderedSequence analysisAdd BLAST22
Regioni450 – 522DisorderedSequence analysisAdd BLAST73
Regioni594 – 641DisorderedSequence analysisAdd BLAST48
Regioni809 – 848DisorderedSequence analysisAdd BLAST40
Regioni1154 – 1173DisorderedSequence analysisAdd BLAST20
Regioni1345 – 1375DisorderedSequence analysisAdd BLAST31
Regioni1468 – 1494DisorderedSequence analysisAdd BLAST27

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi126 – 140Polar residuesSequence analysisAdd BLAST15
Compositional biasi222 – 236Polar residuesSequence analysisAdd BLAST15
Compositional biasi256 – 271Polar residuesSequence analysisAdd BLAST16
Compositional biasi330 – 346Pro residuesSequence analysisAdd BLAST17
Compositional biasi455 – 471Polar residuesSequence analysisAdd BLAST17
Compositional biasi497 – 512Polar residuesSequence analysisAdd BLAST16
Compositional biasi594 – 634Polar residuesSequence analysisAdd BLAST41

<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		ENOG502QTC7, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00530000064137

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_003105_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9P267

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

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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
A0A1B0GW10A0A1B0GW10_HUMAN
Methyl-CpG-binding domain protein 5
MBD5
1,507Annotation 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>
A0A2R8YDL9A0A2R8YDL9_HUMAN
Methyl-CpG-binding domain protein 5
MBD5
1,727Annotation 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. Truncated N-terminus.Curated
The sequence BAA95985 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 PublicationCorresponds to variant dbSNP:rs1553518402EnsemblClinVar.1
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:rs769330358EnsemblClinVar.1
Natural variantiVAR_0375671048T → I in MRD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs145475623Ensembl.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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

More...CCDSi		CCDS33302.1 [Q9P267-1]

NCBI Reference Sequences

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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000407073.5; ENSP00000386049.1; ENSG00000204406.14
ENST00000627651.2; ENSP00000486370.1; ENSG00000204406.14 [Q9P267-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55777

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55777

UCSC genome browser

More...UCSCi		uc002twm.5, human [Q9P267-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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]

3D structure databases

AlphaFoldDBiQ9P267
ModBaseiSearch...
SWISS-MODEL-WorkspaceiSubmit a new modelling project...

Protein-protein interaction databases

BioGRIDi120892, 29 interactors
IntActiQ9P267, 30 interactors
STRINGi9606.ENSP00000386049

PTM databases

iPTMnetiQ9P267
PhosphoSitePlusiQ9P267

Genetic variation databases

BioMutaiMBD5
DMDMi296439306

Proteomic databases

jPOSTiQ9P267
MassIVEiQ9P267
PaxDbiQ9P267
PeptideAtlasiQ9P267
PRIDEiQ9P267
ProteomicsDBi83738 [Q9P267-1]
83739 [Q9P267-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33627, 114 antibodies from 19 providers

The DNASU plasmid repository

More...DNASUi		55777

Genome annotation databases

EnsembliENST00000407073.5; ENSP00000386049.1; ENSG00000204406.14
ENST00000627651.2; ENSP00000486370.1; ENSG00000204406.14 [Q9P267-2]
GeneIDi55777
KEGGihsa:55777
UCSCiuc002twm.5, human [Q9P267-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55777
DisGeNETi55777

GeneCards: human genes, protein and diseases

More...GeneCardsi		MBD5
GeneReviewsiMBD5
HGNCiHGNC:20444, MBD5
HPAiENSG00000204406, Low tissue specificity
MalaCardsiMBD5
MIMi156200, phenotype
611472, gene
neXtProtiNX_Q9P267
OpenTargetsiENSG00000204406
Orphaneti228402, 2q23.1 microdeletion syndrome
178469, Autosomal dominant non-syndromic intellectual disability
PharmGKBiPA134924244
VEuPathDBiHostDB:ENSG00000204406

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QTC7, Eukaryota
GeneTreeiENSGT00530000064137
HOGENOMiCLU_003105_0_0_1
InParanoidiQ9P267
PhylomeDBiQ9P267
TreeFamiTF106391

Enzyme and pathway databases

PathwayCommonsiQ9P267
ReactomeiR-HSA-5689603, UCH proteinases
SignaLinkiQ9P267
SIGNORiQ9P267

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55777, 3 hits in 1072 CRISPR screens

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

More...ChiTaRSi		MBD5, human

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

More...GenomeRNAii		55777
PharosiQ9P267, Tbio

Protein Ontology

More...PROi		PR:Q9P267
RNActiQ9P267, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000204406, Expressed in corpus callosum and 209 other tissues
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
SMARTiView protein in SMART
SM00391, MBD, 1 hit
SUPFAMiSSF54171, SSF54171, 1 hit
PROSITEiView protein in PROSITE
PS50982, MBD, 1 hit
PS50812, PWWP, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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%5Fand%5Fisoforms">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: May 25, 2022
This is version 162 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

Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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