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Protein

Methyl-CpG-binding domain protein 3-like 1

Gene

MBD3L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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.

GO - Molecular functioni

  • methyl-CpG binding Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionRepressor
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Methyl-CpG-binding domain protein 3-like 1
Short name:
MBD3-like protein 1
Gene namesi
Name:MBD3L1
Synonyms:MBD3L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000170948.3
HGNCiHGNC:15774 MBD3L1
MIMi607963 gene
neXtProtiNX_Q8WWY6

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000170948
PharmGKBiPA30662

Polymorphism and mutation databases

BioMutaiMBD3L1
DMDMi296436435

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000962511 – 194Methyl-CpG-binding domain protein 3-like 1Add BLAST194

Proteomic databases

PaxDbiQ8WWY6
PeptideAtlasiQ8WWY6
PRIDEiQ8WWY6
ProteomicsDBi74958

PTM databases

iPTMnetiQ8WWY6
PhosphoSitePlusiQ8WWY6

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000170948 Expressed in 26 organ(s), highest expression level in left testis
CleanExiHS_MBD3L1
GenevisibleiQ8WWY6 HS

Organism-specific databases

HPAiHPA043121
HPA046753

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi124569, 24 interactors
IntActiQ8WWY6, 34 interactors
STRINGi9606.ENSP00000304198

Structurei

3D structure databases

ProteinModelPortaliQ8WWY6
SMRiQ8WWY6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 104Transcription repressorAdd BLAST104

Domaini

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

Sequence similaritiesi

Belongs to the MBD3L family.Curated

Phylogenomic databases

eggNOGiKOG4161 Eukaryota
ENOG4111HPQ LUCA
GeneTreeiENSGT00410000025376
HOGENOMiHOG000013073
HOVERGENiHBG052417
InParanoidiQ8WWY6
OMAiPQQVCWQ
OrthoDBiEOG091G0I05
PhylomeDBiQ8WWY6
TreeFamiTF325032

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

Sequencei

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
Checksum:iF9EC132573A45DC9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051155190R → C3 PublicationsCorresponds to variant dbSNP:rs2972588Ensembl.1

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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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

CTDi85509
EuPathDBiHostDB:ENSG00000170948.3
GeneCardsiMBD3L1
H-InvDBiHIX0040045
HGNCiHGNC:15774 MBD3L1
HPAiHPA043121
HPA046753
MIMi607963 gene
neXtProtiNX_Q8WWY6
OpenTargetsiENSG00000170948
PharmGKBiPA30662
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4161 Eukaryota
ENOG4111HPQ LUCA
GeneTreeiENSGT00410000025376
HOGENOMiHOG000013073
HOVERGENiHBG052417
InParanoidiQ8WWY6
OMAiPQQVCWQ
OrthoDBiEOG091G0I05
PhylomeDBiQ8WWY6
TreeFamiTF325032

Miscellaneous databases

GenomeRNAii85509
PROiPR:Q8WWY6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170948 Expressed in 26 organ(s), highest expression level in left testis
CleanExiHS_MBD3L1
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
ProtoNetiSearch...

Entry informationi

Entry nameiMB3L1_HUMAN
AccessioniPrimary (citable) accession number: Q8WWY6
Secondary accession number(s): B5BUM6, Q2M291
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 114 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

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