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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: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Transcriptional repressor.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, 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

HGNCiHGNC:15774. MBD3L1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA30662.

Polymorphism and mutation databases

BioMutaiMBD3L1.
DMDMi296436435.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 194194Methyl-CpG-binding domain protein 3-like 1PRO_0000096251Add
BLAST

Proteomic databases

PaxDbiQ8WWY6.
PeptideAtlasiQ8WWY6.
PRIDEiQ8WWY6.

PTM databases

iPTMnetiQ8WWY6.
PhosphoSiteiQ8WWY6.

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.
CleanExiHS_MBD3L1.
GenevisibleiQ8WWY6. HS.

Organism-specific databases

HPAiHPA043121.
HPA046753.

Interactioni

Protein-protein interaction databases

BioGridi124569. 23 interactions.
STRINGi9606.ENSP00000304198.

Structurei

3D structure databases

ProteinModelPortaliQ8WWY6.
SMRiQ8WWY6. Positions 144-178.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 104104Transcription repressorAdd
BLAST

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

InterProiIPR032343. MBD2/MBD3_p55-bd.
IPR025884. MeCpG-bd_2/3_C_dom.
[Graphical view]
PfamiPF14048. MBD_C. 1 hit.
PF16564. MBDa. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti190 – 1901R → C.3 Publications
Corresponds to variant rs2972588 [ dbSNP | Ensembl ].
VAR_051155

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

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. Positions 144-178.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124569. 23 interactions.
STRINGi9606.ENSP00000304198.

PTM databases

iPTMnetiQ8WWY6.
PhosphoSiteiQ8WWY6.

Polymorphism and mutation databases

BioMutaiMBD3L1.
DMDMi296436435.

Proteomic databases

PaxDbiQ8WWY6.
PeptideAtlasiQ8WWY6.
PRIDEiQ8WWY6.

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.
GeneCardsiMBD3L1.
H-InvDBHIX0040045.
HGNCiHGNC:15774. MBD3L1.
HPAiHPA043121.
HPA046753.
MIMi607963. gene.
neXtProtiNX_Q8WWY6.
PharmGKBiPA30662.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii85509.
PROiQ8WWY6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170948.
CleanExiHS_MBD3L1.
GenevisibleiQ8WWY6. HS.

Family and domain databases

InterProiIPR032343. MBD2/MBD3_p55-bd.
IPR025884. MeCpG-bd_2/3_C_dom.
[Graphical view]
PfamiPF14048. MBD_C. 1 hit.
PF16564. MBDa. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMB3L1_HUMAN
AccessioniPrimary (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: September 7, 2016
This is version 102 of the entry and version 2 of the sequence. [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

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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.