UniProtKB - Q8WWY6 (MB3L1_HUMAN)
Protein
Methyl-CpG-binding domain protein 3-like 1
Gene
MBD3L1
Organism
Homo sapiens (Human)
Status
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.
Keywordsi
Molecular function | Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q8WWY6 |
Names & Taxonomyi
Protein namesi | Recommended name: Methyl-CpG-binding domain protein 3-like 1Short name: MBD3-like protein 1 |
Gene namesi | Name:MBD3L1 Synonyms:MBD3L |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15774, MBD3L1 |
MIMi | 607963, gene |
neXtProti | NX_Q8WWY6 |
VEuPathDBi | HostDB:ENSG00000170948.3 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Note: Nuclear, in large foci.
Nucleus
- nucleus Source: UniProtKB-SubCell
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 85509 |
OpenTargetsi | ENSG00000170948 |
PharmGKBi | PA30662 |
Miscellaneous databases
Pharosi | Q8WWY6, Tbio |
Genetic variation databases
BioMutai | MBD3L1 |
DMDMi | 296436435 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000096251 | 1 – 194 | Methyl-CpG-binding domain protein 3-like 1Add BLAST | 194 |
Proteomic databases
PaxDbi | Q8WWY6 |
PeptideAtlasi | Q8WWY6 |
PRIDEi | Q8WWY6 |
ProteomicsDBi | 74958 |
PTM databases
iPTMneti | Q8WWY6 |
PhosphoSitePlusi | Q8WWY6 |
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
Bgeei | ENSG00000170948, Expressed in left testis and 28 other tissues |
Genevisiblei | Q8WWY6, HS |
Organism-specific databases
HPAi | ENSG00000170948, Tissue enriched (testis) |
Interactioni
Binary interactionsi
Hide detailsQ8WWY6
Protein-protein interaction databases
BioGRIDi | 124569, 66 interactors |
IntActi | Q8WWY6, 60 interactors |
STRINGi | 9606.ENSP00000471575 |
Miscellaneous databases
RNActi | Q8WWY6, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 104 | Transcription repressorAdd BLAST | 104 |
Domaini
The N-terminal half of the protein mediates transcription repression.
Sequence similaritiesi
Belongs to the MBD3L family.Curated
Phylogenomic databases
eggNOGi | KOG4161, Eukaryota |
GeneTreei | ENSGT00950000183005 |
HOGENOMi | CLU_069710_1_0_1 |
InParanoidi | Q8WWY6 |
OMAi | PQQVCWQ |
OrthoDBi | 1431783at2759 |
PhylomeDBi | Q8WWY6 |
TreeFami | TF325032 |
Family and domain databases
InterProi | View protein in InterPro IPR032343, MBD2/MBD3_p55-bd IPR025884, MeCpG-bd_2/3_C_dom |
Pfami | View protein in Pfam PF14048, MBD_C, 1 hit PF16564, MBDa, 1 hit |
i Sequence
Sequence statusi: Complete.
Q8WWY6-1 [UniParc]FASTAAdd to basket
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_051155 | 190 | R → 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 |
CCDSi | CCDS12209.1 |
RefSeqi | NP_660209.2, NM_145208.2 |
Genome annotation databases
Ensembli | ENST00000305625; ENSP00000304198; ENSG00000170948 ENST00000595891; ENSP00000471575; ENSG00000170948 |
GeneIDi | 85509 |
KEGGi | hsa:85509 |
UCSCi | uc002mko.2, human |
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 |
CCDSi | CCDS12209.1 |
RefSeqi | NP_660209.2, NM_145208.2 |
3D structure databases
SMRi | Q8WWY6 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 124569, 66 interactors |
IntActi | Q8WWY6, 60 interactors |
STRINGi | 9606.ENSP00000471575 |
PTM databases
iPTMneti | Q8WWY6 |
PhosphoSitePlusi | Q8WWY6 |
Genetic variation databases
BioMutai | MBD3L1 |
DMDMi | 296436435 |
Proteomic databases
PaxDbi | Q8WWY6 |
PeptideAtlasi | Q8WWY6 |
PRIDEi | Q8WWY6 |
ProteomicsDBi | 74958 |
Protocols and materials databases
Antibodypediai | 24961, 117 antibodies |
Genome annotation databases
Ensembli | ENST00000305625; ENSP00000304198; ENSG00000170948 ENST00000595891; ENSP00000471575; ENSG00000170948 |
GeneIDi | 85509 |
KEGGi | hsa:85509 |
UCSCi | uc002mko.2, human |
Organism-specific databases
CTDi | 85509 |
DisGeNETi | 85509 |
GeneCardsi | MBD3L1 |
HGNCi | HGNC:15774, MBD3L1 |
HPAi | ENSG00000170948, Tissue enriched (testis) |
MIMi | 607963, gene |
neXtProti | NX_Q8WWY6 |
OpenTargetsi | ENSG00000170948 |
PharmGKBi | PA30662 |
VEuPathDBi | HostDB:ENSG00000170948.3 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4161, Eukaryota |
GeneTreei | ENSGT00950000183005 |
HOGENOMi | CLU_069710_1_0_1 |
InParanoidi | Q8WWY6 |
OMAi | PQQVCWQ |
OrthoDBi | 1431783at2759 |
PhylomeDBi | Q8WWY6 |
TreeFami | TF325032 |
Enzyme and pathway databases
PathwayCommonsi | Q8WWY6 |
Miscellaneous databases
BioGRID-ORCSi | 85509, 9 hits in 994 CRISPR screens |
GenomeRNAii | 85509 |
Pharosi | Q8WWY6, Tbio |
PROi | PR:Q8WWY6 |
RNActi | Q8WWY6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000170948, Expressed in left testis and 28 other tissues |
Genevisiblei | Q8WWY6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR032343, MBD2/MBD3_p55-bd IPR025884, MeCpG-bd_2/3_C_dom |
Pfami | View protein in Pfam PF14048, MBD_C, 1 hit PF16564, MBDa, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MB3L1_HUMAN | |
Accessioni | Q8WWY6Primary (citable) accession number: Q8WWY6 Secondary accession number(s): B5BUM6, Q2M291 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 19, 2004 |
Last sequence update: | May 18, 2010 | |
Last modified: | April 7, 2021 | |
This is version 130 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families