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UniProtKB - Q8WWY6 (MB3L1_HUMAN)

Entry version 117 (13 Feb 2019)
Sequence version 2 (18 May 2010)
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Protein

Methyl-CpG-binding domain protein 3-like 1

Gene

MBD3L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:3 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.1 Publication

Miscellaneous

Does not bind methylated DNA.
The MBD3L proteins are encoded by strongly repeated regions of the 19p13 chromosome. The exact number of functional copies is unclear, and some of them may represent pseudogenes.

<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

  • methyl-CpG binding Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the 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 functionRepressor
Biological processTranscription, Transcription regulation

<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 3-like 1
Short name:
MBD3-like protein 1
<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:MBD3L1
Synonyms:MBD3L
<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 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_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 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000170948.3

Human Gene Nomenclature Database

More...HGNCi		HGNC:15774 MBD3L1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607963 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8WWY6

<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

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

Organism-specific databases

Open Targets

More...OpenTargetsi		ENSG00000170948

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30662

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MBD3L1

Domain mapping of disease mutations (DMDM)

More...DMDMi		296436435

<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_00000962511 – 194Methyl-CpG-binding domain protein 3-like 1Add BLAST194

Proteomic databases

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

More...PaxDbi		Q8WWY6

PeptideAtlas

More...PeptideAtlasi		Q8WWY6

PRoteomics IDEntifications database

More...PRIDEi		Q8WWY6

ProteomicsDB human proteome resource

More...ProteomicsDBi		74958

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8WWY6

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

More...PhosphoSitePlusi		Q8WWY6

<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

Highly expressed in testis. Detected at low levels in pancreas. Not detected in the other tissues tested.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000170948 Expressed in 26 organ(s), highest expression level in left testis

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8WWY6 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA043121
HPA046753

<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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
GTF2IRD1Q9UHL93EBI-12516603,EBI-372530

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		124569, 24 interactors

Protein interaction database and analysis system

More...IntActi		Q8WWY6, 34 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000304198

<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		Q8WWY6

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

More...SMRi		Q8WWY6

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

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>Regioni1 – 104Transcription repressorAdd BLAST104

<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 N-terminal half of the protein mediates transcription repression.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the MBD3L family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4161 Eukaryota
ENOG4111HPQ LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153817

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000013073

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG052417

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8WWY6

Identification of Orthologs from Complete Genome Data

More...OMAi		PQQVCWQ

Database of Orthologous Groups

More...OrthoDBi		1431783at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8WWY6

TreeFam database of animal gene trees

More...TreeFami		TF325032

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR032343 MBD2/MBD3_p55-bd
IPR025884 MeCpG-bd_2/3_C_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF14048 MBD_C, 1 hit
PF16564 MBDa, 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>Sequencei

<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.

Q8WWY6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAKSSQRKQR DCVNQCKSKP GLSTSIPLRM SSYTFKRPVT RITPHPGNEV 
        60         70         80         90        100
RYHQWEESLE KPQQVCWQRR LQGLQAYSSA GELSSTLDLA NTLQKLVPSY 
       110        120        130        140        150
TGGSLLEDLA SGLEHSCPMP HLACSSDAVE IIPAEGVGIS QLLCKQFLVT 
       160        170        180        190 
EEDIRKQEGK VKTVRERLAI ALIADGLANE AEKVRDQEGR PEKR
Length:194
Mass (Da):21,616
Last modified:May 18, 2010 - 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:iF9EC132573A45DC9
GO

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_051155190R → C3 PublicationsCorresponds to variant dbSNP:rs2972588Ensembl.1

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
AY038022 mRNA Translation: AAK72591.1
AB451462 mRNA Translation: BAG70276.1
AC008734 Genomic DNA No translation available.
BC112064 mRNA Translation: AAI12065.1
BC112058 mRNA Translation: AAI12059.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12209.1

NCBI Reference Sequences

More...RefSeqi		NP_660209.2, NM_145208.2

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.133912

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000305625; ENSP00000304198; ENSG00000170948
ENST00000595891; ENSP00000471575; ENSG00000170948

Database of genes from NCBI RefSeq genomes

More...GeneIDi		85509

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:85509

UCSC genome browser

More...UCSCi		uc002mko.2 human

Keywords - Coding sequence diversityi

Polymorphism

<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
AY038022 mRNA Translation: AAK72591.1
AB451462 mRNA Translation: BAG70276.1
AC008734 Genomic DNA No translation available.
BC112064 mRNA Translation: AAI12065.1
BC112058 mRNA Translation: AAI12059.1
CCDSiCCDS12209.1
RefSeqiNP_660209.2, NM_145208.2
UniGeneiHs.133912

3D structure databases

ProteinModelPortaliQ8WWY6
SMRiQ8WWY6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124569, 24 interactors
IntActiQ8WWY6, 34 interactors
STRINGi9606.ENSP00000304198

PTM databases

iPTMnetiQ8WWY6
PhosphoSitePlusiQ8WWY6

Polymorphism and mutation databases

BioMutaiMBD3L1
DMDMi296436435

Proteomic databases

PaxDbiQ8WWY6
PeptideAtlasiQ8WWY6
PRIDEiQ8WWY6
ProteomicsDBi74958

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000305625; ENSP00000304198; ENSG00000170948
ENST00000595891; ENSP00000471575; ENSG00000170948
GeneIDi85509
KEGGihsa:85509
UCSCiuc002mko.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		85509
EuPathDBiHostDB:ENSG00000170948.3

GeneCards: human genes, protein and diseases

More...GeneCardsi		MBD3L1

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0040045
HGNCiHGNC:15774 MBD3L1
HPAiHPA043121
HPA046753
MIMi607963 gene
neXtProtiNX_Q8WWY6
OpenTargetsiENSG00000170948
PharmGKBiPA30662

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4161 Eukaryota
ENOG4111HPQ LUCA
GeneTreeiENSGT00940000153817
HOGENOMiHOG000013073
HOVERGENiHBG052417
InParanoidiQ8WWY6
OMAiPQQVCWQ
OrthoDBi1431783at2759
PhylomeDBiQ8WWY6
TreeFamiTF325032

Miscellaneous databases

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

More...GenomeRNAii		85509

Protein Ontology

More...PROi		PR:Q8WWY6

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000170948 Expressed in 26 organ(s), highest expression level in left testis
GenevisibleiQ8WWY6 HS

Family and domain databases

InterProiView protein in InterPro
IPR032343 MBD2/MBD3_p55-bd
IPR025884 MeCpG-bd_2/3_C_dom
PfamiView protein in Pfam
PF14048 MBD_C, 1 hit
PF16564 MBDa, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiMB3L1_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: Q8WWY6
Secondary accession number(s): B5BUM6, Q2M291
<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 117 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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