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UniProtKB - Q9UIS9 (MBD1_HUMAN)

Entry version 196 (10 Feb 2021)
Sequence version 2 (19 Jul 2004)
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Protein

Methyl-CpG-binding domain protein 1

Gene

MBD1

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

Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage by methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by recruiting AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a complex with SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation. Isoform 1 and isoform 2 can also repress transcription from unmethylated promoters.9 Publications

Caution

Was reported to recruit SETDB1 during DNA replication, to form a S phase-specific complex that would facilitate methylation of H3 'Lys-9' during replication-coupled chromatin assembly and vould be at least composed of the CAF-1 subunit CHAF1A, MBD1 and SETDB1 (PubMed:15327775). The interaction with SETDB1 was also reported to be inhibited by sumoylation at Lys-499 and Lys-538 (PubMed:17066076). However, these papers have been retracted because some data, results and conclusions are not reliable (PubMed:30849389, PubMed:31612521).4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi338ZincCombined sources1 Publication1
Metal bindingi341ZincCombined sources1 Publication1
Metal bindingi344ZincCombined sources1 Publication1
Metal bindingi350ZincCombined sources1 Publication1
Metal bindingi353ZincCombined sources1 Publication1
Metal bindingi356ZincCombined sources1 Publication1
Metal bindingi372ZincCombined sources1 Publication1
Metal bindingi377ZincCombined sources1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri169 – 216CXXC-type 1PROSITE-ProRule annotation1 PublicationAdd BLAST48
Zinc fingeri217 – 263CXXC-type 2PROSITE-ProRule annotationAdd BLAST47
Zinc fingeri330 – 378CXXC-type 3PROSITE-ProRule annotation1 PublicationAdd BLAST49

<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 ...

<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>Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9UIS9

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3899300, SUMOylation of transcription cofactors

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9UIS9

<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 1Curated
Alternative name(s):
CXXC-type zinc finger protein 3
Methyl-CpG-binding protein MBD1
Protein containing methyl-CpG-binding domain 1
<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:MBD1Imported
Synonyms:CXXC3, PCM1
<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 18

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6916, MBD1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		156535, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UIS9

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000141644.17

<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

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

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>Mutagenesisi22R → A or K: Abolishes binding to methylated DNA. 2 Publications1
Mutagenesisi30R → A: Strongly reduces binding to methylated DNA. 2 Publications1
Mutagenesisi30R → K: No loss of binding to methylated DNA. 1 Publication1
Mutagenesisi32D → A: Strongly reduces binding to methylated DNA. 2 Publications1
Mutagenesisi34Y → A or F: Strongly reduces binding to methylated DNA. 2 Publications1
Mutagenesisi44R → A or K: Abolishes binding to methylated DNA. 2 Publications1
Mutagenesisi45S → A: Reduces binding to methylated DNA. 2 Publications1
Mutagenesisi46K → A: Strongly reduces binding to methylated DNA. 1 Publication1
Mutagenesisi52Y → A: No loss of binding to methylated DNA. 2 Publications1
Mutagenesisi64F → A: Disrupts tertiary structure and abolishes DNA binding. 1 Publication1
Mutagenesisi65K → A: Strongly reduces binding to methylated DNA. 1 Publication1
Mutagenesisi576I → R: Abolishes interaction with AFT7IP and subsequent transcription repression activity. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		4152

Open Targets

More...OpenTargetsi		ENSG00000141644

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30659

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UIS9, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MBD1

Domain mapping of disease mutations (DMDM)

More...DMDMi		50401200

<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_00000962581 – 605Methyl-CpG-binding domain protein 1Add BLAST605

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki117Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki277Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei297PhosphoserineCombined sources1
Modified residuei391PhosphoserineCombined sources1
Modified residuei399PhosphoserineCombined sources1
Cross-linki422Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki440Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki499Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki538Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki558Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Sumoylated, sumoylation may increase interaction with AFT7IP.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UIS9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UIS9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UIS9

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

More...PaxDbi		Q9UIS9

PeptideAtlas

More...PeptideAtlasi		Q9UIS9

PRoteomics IDEntifications database

More...PRIDEi		Q9UIS9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		84560 [Q9UIS9-1]
84561 [Q9UIS9-2]
84562 [Q9UIS9-4]
84563 [Q9UIS9-5]
84564 [Q9UIS9-6]
84565 [Q9UIS9-7]
84566 [Q9UIS9-8]
84567 [Q9UIS9-9]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UIS9

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

More...PhosphoSitePlusi		Q9UIS9

<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

Widely expressed.1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated by interferon.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000141644, Expressed in testis and 241 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UIS9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UIS9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000141644, 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 the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with OASL, AFT7IP, AFT7IP2 and BAHD1 (PubMed:12665582, PubMed:14728690, PubMed:15691849, PubMed:16757475, PubMed:19666599). Binds CHAF1A and the SUV39H1-CBX5 complex via the MBD domain (PubMed:12697822, PubMed:12711603). Binds MGP via the TRD domain (PubMed:14555760). May be part of the MeCP1 complex (PubMed:9207790).

9 Publications

<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		110322, 38 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9UIS9

Protein interaction database and analysis system

More...IntActi		Q9UIS9, 20 interactors

Molecular INTeraction database

More...MINTi		Q9UIS9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000468785

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9UIS9, 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

Secondary structure

1605
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		Q9UIS9

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

More...SMRi		Q9UIS9

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9UIS9

<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>Domaini1 – 69MBDPROSITE-ProRule annotation3 PublicationsAdd BLAST69

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>Regioni529 – 592Transcriptional repression domain (TRD)1 PublicationAdd BLAST64

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi84 – 88Nuclear localization signalSequence analysis5

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 biasi284 – 313Pro-richAdd BLAST30

<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

The methyl-CpG-binding domain (MBD) functions both in binding to methylated DNA and in protein interactions.1 Publication
The third CXXC-type zinc finger mediates binding to DNA containing unmethylated CpG dinucleotides.1 Publication
The transcriptional repression domain (TRD) is involved in transcription repression and in protein interactions.1 Publication

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri169 – 216CXXC-type 1PROSITE-ProRule annotation1 PublicationAdd BLAST48
Zinc fingeri217 – 263CXXC-type 2PROSITE-ProRule annotationAdd BLAST47
Zinc fingeri330 – 378CXXC-type 3PROSITE-ProRule annotation1 PublicationAdd BLAST49

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QQE9, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183005

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_031386_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UIS9

Identification of Orthologs from Complete Genome Data

More...OMAi		DCPSKAV

Database of Orthologous Groups

More...OrthoDBi		1431783at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UIS9

Family and domain databases

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00332

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016177, DNA-bd_dom_sf
IPR001739, Methyl_CpG_DNA-bd
IPR002857, Znf_CXXC

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01429, MBD, 1 hit
PF02008, zf-CXXC, 3 hits

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
PS51058, ZF_CXXC, 3 hits

<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 (11+)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 11 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 11 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UIS9-1) [UniParc]FASTAAdd to basket
Also known as: MBD1v1

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MAEDWLDCPA LGPGWKRREV FRKSGATCGR SDTYYQSPTG DRIRSKVELT 
        60         70         80         90        100
RYLGPACDLT LFDFKQGILC YPAPKAHPVA VASKKRKKPS RPAKTRKRQV 
       110        120        130        140        150
GPQSGEVRKE APRDETKADT DTAPASFPAP GCCENCGISF SGDGTQRQRL 
       160        170        180        190        200
KTLCKDCRAQ RIAFNREQRM FKRVGCGECA ACQVTEDCGA CSTCLLQLPH 
       210        220        230        240        250
DVASGLFCKC ERRRCLRIVE RSRGCGVCRG CQTQEDCGHC PICLRPPRPG 
       260        270        280        290        300
LRRQWKCVQR RCLRGKHARR KGGCDSKMAA RRRPGAQPLP PPPPSQSPEP 
       310        320        330        340        350
TEPHPRALAP SPPAEFIYYC VDEDELQPYT NRRQNRKCGA CAACLRRMDC 
       360        370        380        390        400
GRCDFCCDKP KFGGSNQKRQ KCRWRQCLQF AMKRLLPSVW SESEDGAGSP 
       410        420        430        440        450
PPYRRRKRPS SARRHHLGPT LKPTLATRTA QPDHTQAPTK QEAGGGFVLP 
       460        470        480        490        500
PPGTDLVFLR EGASSPVQVP GPVAASTEAL LQEAQCSGLS WVVALPQVKQ 
       510        520        530        540        550
EKADTQDEWT PGTAVLTSPV LVPGCPSKAV DPGLPSVKQE PPDPEEDKEE 
       560        570        580        590        600
NKDDSASKLA PEEEAGGAGT PVITEIFSLG GTRFRDTAVW LPRSKDLKKP 

GARKQ
Length:605
Mass (Da):66,607
Last modified:July 19, 2004 - v2
<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:i665732782CC6A32A
GO
Isoform 2 (identifier: Q9UIS9-2) [UniParc]FASTAAdd to basket
Also known as: MBD1v2

The sequence of this isoform differs from the canonical sequence as follows:
     304-326: Missing.
     483-528: Missing.
     593-605: RSKDLKKPGARKQ → SLQGRHSGRE...RRSWCPSSQS

Show »
Length:586
Mass (Da):64,677
Checksum:iB77C386F65EA8718
GO
Isoform 4 (identifier: Q9UIS9-4) [UniParc]FASTAAdd to basket
Also known as: MBD1v3

The sequence of this isoform differs from the canonical sequence as follows:
     327-382: Missing.
     483-528: Missing.

Show »
Length:503
Mass (Da):55,167
Checksum:iC5D0267B1D464ACD
GO
Isoform 5 (identifier: Q9UIS9-5) [UniParc]FASTAAdd to basket
Also known as: PCM1

The sequence of this isoform differs from the canonical sequence as follows:
     173-221: Missing.

Show »
Length:556
Mass (Da):61,265
Checksum:i2426F8B3EFD49E3B
GO
Isoform 6 (identifier: Q9UIS9-6) [UniParc]FASTAAdd to basket
Also known as: MBD1v6

The sequence of this isoform differs from the canonical sequence as follows:
     483-528: Missing.
     573-596: ITEIFSLGGTRFRDTAVWLPRSKD → EPTTQPQYSGNFDNDLYEIYLIDI
     597-605: Missing.

Show »
Length:550
Mass (Da):60,848
Checksum:i34194D340ED94FAB
GO
Isoform 7 (identifier: Q9UIS9-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     327-382: Missing.

Show »
Length:549
Mass (Da):60,001
Checksum:i45456E4E96182B5C
GO
Isoform 8 (identifier: Q9UIS9-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     304-326: Missing.
     483-528: Missing.

Show »
Length:536
Mass (Da):59,158
Checksum:i9ED6B5AEF1FF8BD9
GO
Isoform 9 (identifier: Q9UIS9-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     264-264: R → RHLAHRLRRRHQRCQRRTPLAVAPPT

Show »
Length:630
Mass (Da):69,617
Checksum:i23AF6E138EA8AD82
GO
Isoform 10 (identifier: Q9UIS9-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     173-221: Missing.
     327-327: Missing.
     594-605: SKDLKKPGARKQ → YYHLALDWKCNCGYHLCCRSVLVP

Show »
Length:567
Mass (Da):62,639
Checksum:i1C2991C7EEE79687
GO
Isoform 11 (identifier: Q9UIS9-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     326-382: LQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAM → L
     483-528: Missing.
     594-605: SKDLKKPGARKQ → AGTREGKMDVKCGRPRTQWSPRARAGTHEDGLEPMSVSHHLQLR

Show »
Length:535
Mass (Da):58,752
Checksum:iBC13139056A0875D
GO
Isoform 12 (identifier: Q9UIS9-12) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     593-605: RSKDLKKPGARKQ → SLQGRHSGRE...RRSWCPSSQS

Show »
Length:655
Mass (Da):72,126
Checksum:i0B83174575D7A4BE
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MS90A0A0A0MS90_HUMAN
Methyl-CpG-binding domain protein 1
MBD1
566Annotation 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>
K7EPZ6K7EPZ6_HUMAN
Methyl-CpG-binding domain protein 1
MBD1
416Annotation 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>
K7EMA9K7EMA9_HUMAN
Methyl-CpG-binding domain protein 1
MBD1
256Annotation 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>
K7EN65K7EN65_HUMAN
Methyl-CpG-binding domain protein 1
MBD1
240Annotation 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>
K7EIN3K7EIN3_HUMAN
Methyl-CpG-binding domain protein 1
MBD1
44Annotation 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>

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 conflicti239H → R in ABP02056 (Ref. 5) Curated1
Sequence conflicti330T → M in ABP02056 (Ref. 5) Curated1
Sequence conflicti348 – 349MD → NG in CAA71735 (PubMed:9207790).Curated2
Sequence conflicti348 – 349MD → NG in AAD51442 (PubMed:10454587).Curated2
Sequence conflicti348 – 349MD → NG in AAD51443 (PubMed:10454587).Curated2
Sequence conflicti489L → M in CAA71735 (PubMed:9207790).Curated1
Isoform 7 (identifier: Q9UIS9-7)
Sequence conflicti327K → Q in AAD51444 (PubMed:10454587).Curated1

Natural variant

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_019513401P → A1 PublicationCorresponds to variant dbSNP:rs125555Ensembl.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_011064173 – 221Missing in isoform 5 and isoform 10. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_042812264R → RHLAHRLRRRHQRCQRRTPL AVAPPT in isoform 9. 1 Publication1
Alternative sequenceiVSP_011065304 – 326Missing in isoform 2 and isoform 8. 2 PublicationsAdd BLAST23
Alternative sequenceiVSP_054736326 – 382LQPYT…LQFAM → L in isoform 11. CuratedAdd BLAST57
Alternative sequenceiVSP_011066327 – 382Missing in isoform 4 and isoform 7. 2 PublicationsAdd BLAST56
Alternative sequenceiVSP_054737327Missing in isoform 10. Curated1
Alternative sequenceiVSP_011068483 – 528Missing in isoform 2, isoform 4, isoform 6, isoform 8 and isoform 11. 2 PublicationsAdd BLAST46
Alternative sequenceiVSP_011069573 – 596ITEIF…PRSKD → EPTTQPQYSGNFDNDLYEIY LIDI in isoform 6. CuratedAdd BLAST24
Alternative sequenceiVSP_011070593 – 605RSKDL…GARKQ → SLQGRHSGREDGCKVWETED TVEPTSTSWNPRGWPGTHVS LSPPPASMMWVSCRRSWCPS SQS in isoform 2 and isoform 12. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_054738594 – 605SKDLK…GARKQ → YYHLALDWKCNCGYHLCCRS VLVP in isoform 10. CuratedAdd BLAST12
Alternative sequenceiVSP_054739594 – 605SKDLK…GARKQ → AGTREGKMDVKCGRPRTQWS PRARAGTHEDGLEPMSVSHH LQLR in isoform 11. CuratedAdd BLAST12
Alternative sequenceiVSP_011071597 – 605Missing in isoform 6. Curated9

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
Y10746 mRNA Translation: CAA71735.1
AF120981, AF120980 Genomic DNA Translation: AAD50371.1
AF078830 mRNA Translation: AAD51442.1
AF078831 mRNA Translation: AAD51443.1
AF078832 mRNA Translation: AAD51444.1
AF078833 mRNA Translation: AAD51445.1
EF488685 mRNA Translation: ABP02056.1
AK302004 mRNA Translation: BAG63407.1
AC090246 Genomic DNA No translation available.
BC033242 mRNA Translation: AAH33242.1
AJ564845 mRNA Translation: CAD92308.1
AF072241 mRNA Translation: AAC68870.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11941.1 [Q9UIS9-4]
CCDS11942.1 [Q9UIS9-7]
CCDS11943.1 [Q9UIS9-1]
CCDS11944.1 [Q9UIS9-5]
CCDS32832.1 [Q9UIS9-2]
CCDS56071.1 [Q9UIS9-8]
CCDS56072.1 [Q9UIS9-6]
CCDS56073.1 [Q9UIS9-9]
CCDS59318.1 [Q9UIS9-10]
CCDS59319.1 [Q9UIS9-11]
CCDS59320.1 [Q9UIS9-12]

NCBI Reference Sequences

More...RefSeqi		NP_001191065.1, NM_001204136.1 [Q9UIS9-12]
NP_001191066.1, NM_001204137.1 [Q9UIS9-9]
NP_001191067.1, NM_001204138.1
NP_001191068.1, NM_001204139.1 [Q9UIS9-1]
NP_001191069.1, NM_001204140.1
NP_001191070.1, NM_001204141.1 [Q9UIS9-10]
NP_001191071.1, NM_001204142.1 [Q9UIS9-6]
NP_001191072.1, NM_001204143.1 [Q9UIS9-11]
NP_001191080.1, NM_001204151.2 [Q9UIS9-8]
NP_002375.1, NM_002384.2 [Q9UIS9-4]
NP_056669.2, NM_015844.2 [Q9UIS9-7]
NP_056670.2, NM_015845.3 [Q9UIS9-2]
NP_056671.2, NM_015846.3 [Q9UIS9-1]
NP_056723.2, NM_015847.3 [Q9UIS9-5]
XP_005258328.1, XM_005258271.2 [Q9UIS9-1]
XP_011524295.1, XM_011525993.2 [Q9UIS9-9]
XP_011524296.1, XM_011525994.2
XP_011524308.1, XM_011526006.1 [Q9UIS9-11]
XP_016881249.1, XM_017025760.1 [Q9UIS9-1]
XP_016881259.1, XM_017025770.1 [Q9UIS9-7]
XP_016881260.1, XM_017025771.1
XP_016881265.1, XM_017025776.1 [Q9UIS9-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000269468; ENSP00000269468; ENSG00000141644 [Q9UIS9-1]
ENST00000269471; ENSP00000269471; ENSG00000141644 [Q9UIS9-2]
ENST00000339998; ENSP00000339546; ENSG00000141644 [Q9UIS9-6]
ENST00000347968; ENSP00000285102; ENSG00000141644 [Q9UIS9-7]
ENST00000353909; ENSP00000269469; ENSG00000141644 [Q9UIS9-5]
ENST00000382948; ENSP00000372407; ENSG00000141644 [Q9UIS9-1]
ENST00000398488; ENSP00000381502; ENSG00000141644 [Q9UIS9-4]
ENST00000398493; ENSP00000381506; ENSG00000141644 [Q9UIS9-7]
ENST00000457839; ENSP00000405268; ENSG00000141644 [Q9UIS9-9]
ENST00000585595; ENSP00000468430; ENSG00000141644 [Q9UIS9-9]
ENST00000585672; ENSP00000466092; ENSG00000141644 [Q9UIS9-10]
ENST00000587605; ENSP00000468042; ENSG00000141644 [Q9UIS9-11]
ENST00000588937; ENSP00000467763; ENSG00000141644 [Q9UIS9-2]
ENST00000590208; ENSP00000468785; ENSG00000141644 [Q9UIS9-12]
ENST00000591416; ENSP00000467017; ENSG00000141644 [Q9UIS9-1]
ENST00000591535; ENSP00000465923; ENSG00000141644 [Q9UIS9-8]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4152

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4152

UCSC genome browser

More...UCSCi		uc002leg.4, human [Q9UIS9-1]

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
Y10746 mRNA Translation: CAA71735.1
AF120981, AF120980 Genomic DNA Translation: AAD50371.1
AF078830 mRNA Translation: AAD51442.1
AF078831 mRNA Translation: AAD51443.1
AF078832 mRNA Translation: AAD51444.1
AF078833 mRNA Translation: AAD51445.1
EF488685 mRNA Translation: ABP02056.1
AK302004 mRNA Translation: BAG63407.1
AC090246 Genomic DNA No translation available.
BC033242 mRNA Translation: AAH33242.1
AJ564845 mRNA Translation: CAD92308.1
AF072241 mRNA Translation: AAC68870.1
CCDSiCCDS11941.1 [Q9UIS9-4]
CCDS11942.1 [Q9UIS9-7]
CCDS11943.1 [Q9UIS9-1]
CCDS11944.1 [Q9UIS9-5]
CCDS32832.1 [Q9UIS9-2]
CCDS56071.1 [Q9UIS9-8]
CCDS56072.1 [Q9UIS9-6]
CCDS56073.1 [Q9UIS9-9]
CCDS59318.1 [Q9UIS9-10]
CCDS59319.1 [Q9UIS9-11]
CCDS59320.1 [Q9UIS9-12]
RefSeqiNP_001191065.1, NM_001204136.1 [Q9UIS9-12]
NP_001191066.1, NM_001204137.1 [Q9UIS9-9]
NP_001191067.1, NM_001204138.1
NP_001191068.1, NM_001204139.1 [Q9UIS9-1]
NP_001191069.1, NM_001204140.1
NP_001191070.1, NM_001204141.1 [Q9UIS9-10]
NP_001191071.1, NM_001204142.1 [Q9UIS9-6]
NP_001191072.1, NM_001204143.1 [Q9UIS9-11]
NP_001191080.1, NM_001204151.2 [Q9UIS9-8]
NP_002375.1, NM_002384.2 [Q9UIS9-4]
NP_056669.2, NM_015844.2 [Q9UIS9-7]
NP_056670.2, NM_015845.3 [Q9UIS9-2]
NP_056671.2, NM_015846.3 [Q9UIS9-1]
NP_056723.2, NM_015847.3 [Q9UIS9-5]
XP_005258328.1, XM_005258271.2 [Q9UIS9-1]
XP_011524295.1, XM_011525993.2 [Q9UIS9-9]
XP_011524296.1, XM_011525994.2
XP_011524308.1, XM_011526006.1 [Q9UIS9-11]
XP_016881249.1, XM_017025760.1 [Q9UIS9-1]
XP_016881259.1, XM_017025770.1 [Q9UIS9-7]
XP_016881260.1, XM_017025771.1
XP_016881265.1, XM_017025776.1 [Q9UIS9-4]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1D9NNMR-A1-75[»]
1IG4NMR-A1-75[»]
4D4WNMR-A167-222[»]
5W9QX-ray1.80A/B330-388[»]
6D1TX-ray2.25A1-77[»]
BMRBiQ9UIS9
SMRiQ9UIS9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi110322, 38 interactors
CORUMiQ9UIS9
IntActiQ9UIS9, 20 interactors
MINTiQ9UIS9
STRINGi9606.ENSP00000468785

PTM databases

iPTMnetiQ9UIS9
PhosphoSitePlusiQ9UIS9

Genetic variation databases

BioMutaiMBD1
DMDMi50401200

Proteomic databases

EPDiQ9UIS9
jPOSTiQ9UIS9
MassIVEiQ9UIS9
PaxDbiQ9UIS9
PeptideAtlasiQ9UIS9
PRIDEiQ9UIS9
ProteomicsDBi84560 [Q9UIS9-1]
84561 [Q9UIS9-2]
84562 [Q9UIS9-4]
84563 [Q9UIS9-5]
84564 [Q9UIS9-6]
84565 [Q9UIS9-7]
84566 [Q9UIS9-8]
84567 [Q9UIS9-9]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3959, 413 antibodies

The CPTC Antibody Portal

More...CPTCi		Q9UIS9, 3 antibodies

The DNASU plasmid repository

More...DNASUi		4152

Genome annotation databases

EnsembliENST00000269468; ENSP00000269468; ENSG00000141644 [Q9UIS9-1]
ENST00000269471; ENSP00000269471; ENSG00000141644 [Q9UIS9-2]
ENST00000339998; ENSP00000339546; ENSG00000141644 [Q9UIS9-6]
ENST00000347968; ENSP00000285102; ENSG00000141644 [Q9UIS9-7]
ENST00000353909; ENSP00000269469; ENSG00000141644 [Q9UIS9-5]
ENST00000382948; ENSP00000372407; ENSG00000141644 [Q9UIS9-1]
ENST00000398488; ENSP00000381502; ENSG00000141644 [Q9UIS9-4]
ENST00000398493; ENSP00000381506; ENSG00000141644 [Q9UIS9-7]
ENST00000457839; ENSP00000405268; ENSG00000141644 [Q9UIS9-9]
ENST00000585595; ENSP00000468430; ENSG00000141644 [Q9UIS9-9]
ENST00000585672; ENSP00000466092; ENSG00000141644 [Q9UIS9-10]
ENST00000587605; ENSP00000468042; ENSG00000141644 [Q9UIS9-11]
ENST00000588937; ENSP00000467763; ENSG00000141644 [Q9UIS9-2]
ENST00000590208; ENSP00000468785; ENSG00000141644 [Q9UIS9-12]
ENST00000591416; ENSP00000467017; ENSG00000141644 [Q9UIS9-1]
ENST00000591535; ENSP00000465923; ENSG00000141644 [Q9UIS9-8]
GeneIDi4152
KEGGihsa:4152
UCSCiuc002leg.4, human [Q9UIS9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4152
DisGeNETi4152

GeneCards: human genes, protein and diseases

More...GeneCardsi		MBD1
HGNCiHGNC:6916, MBD1
HPAiENSG00000141644, Low tissue specificity
MIMi156535, gene
neXtProtiNX_Q9UIS9
OpenTargetsiENSG00000141644
PharmGKBiPA30659
VEuPathDBiHostDB:ENSG00000141644.17

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QQE9, Eukaryota
GeneTreeiENSGT00950000183005
HOGENOMiCLU_031386_0_0_1
InParanoidiQ9UIS9
OMAiDCPSKAV
OrthoDBi1431783at2759
PhylomeDBiQ9UIS9

Enzyme and pathway databases

PathwayCommonsiQ9UIS9
ReactomeiR-HSA-3899300, SUMOylation of transcription cofactors
SIGNORiQ9UIS9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4152, 10 hits in 897 CRISPR screens

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

More...ChiTaRSi		MBD1, human
EvolutionaryTraceiQ9UIS9

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MBD1

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

More...GenomeRNAii		4152
PharosiQ9UIS9, Tbio

Protein Ontology

More...PROi		PR:Q9UIS9
RNActiQ9UIS9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000141644, Expressed in testis and 241 other tissues
ExpressionAtlasiQ9UIS9, baseline and differential
GenevisibleiQ9UIS9, HS

Family and domain databases

IDEALiIID00332
InterProiView protein in InterPro
IPR016177, DNA-bd_dom_sf
IPR001739, Methyl_CpG_DNA-bd
IPR002857, Znf_CXXC
PfamiView protein in Pfam
PF01429, MBD, 1 hit
PF02008, zf-CXXC, 3 hits
SMARTiView protein in SMART
SM00391, MBD, 1 hit
SUPFAMiSSF54171, SSF54171, 1 hit
PROSITEiView protein in PROSITE
PS50982, MBD, 1 hit
PS51058, ZF_CXXC, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiMBD1_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: Q9UIS9
Secondary accession number(s): A4UTZ0
, B4DXJ5, E9PEC5, K7ELI2, K7EQZ4, K7ESN0, O15248, O95241, Q7Z7B5, Q8N4W4, Q9UNZ6, Q9UNZ7, Q9UNZ8, Q9UNZ9
<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: July 19, 2004
Last modified: February 10, 2021
This is version 196 of the entry and version 2 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: 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
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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