MBD3
Methyl-CpG-binding domain protein 3
Also known as: MBD3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O95983
- Gene
- MBD3
- Ensembl
- ENSG00000071655
- Chromosome
- 19
- Canonical length
- 291 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the presence of a methyl-CpG binding domain (MBD). The encoded protein is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. Unlike the other family members, the encoded protein is not capable of binding to methylated DNA. The protein mediates the association of metastasis-associated protein 2 with the core histone deacetylase complex. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
Canonical amino-acid sequenceUniProt
291 residues, UniProt reviewed canonical sequence.
>O95983|MBD3
1 MERKRWECPA LPQGWEREEV PRRSGLSAGH RDVFYYSPSG KKFRSKPQLA RYLGGSMDLS
61 TFDFRTGKML MSKMNKSRQR VRYDSSNQVK GKPDLNTALP VRQTASIFKQ PVTKITNHPS
121 NKVKSDPQKA VDQPRQLFWE KKLSGLNAFD IAEELVKTMD LPKGLQGVGP GCTDETLLSA
181 IASALHTSTM PITGQLSAAV EKNPGVWLNT TQPLCKAFMV TDEDIRKQEE LVQQVRKRLE
241 EALMADMLAH VEELARDGEA PLDKACAEDD DEEDEEEEEE EPDPDPEMEH VLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MBD3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.5
- Highest tissue expression
- 19 nTPM
Expression across tissuesHPA
Tissue
- skin: 19 nTPM
- cerebellum: 15 nTPM
- hippocampal formation: 13 nTPM
- bone marrow: 12 nTPM
- cerebral cortex: 12 nTPM
- pituitary gland: 12 nTPM
Single-cell type
- syncytiotrophoblasts: 150 nCPM
- migrating cytotrophoblasts: 63 nCPM
- extravillous trophoblasts: 51 nCPM
- cytotrophoblasts: 51 nCPM
- hepatocytes: 50 nCPM
- megakaryocytes: 50 nCPM
Immune cell
- basophil: 0.6 nTPM
- plasmacytoid DC: 0.5 nTPM
- intermediate monocyte: 0.4 nTPM
- neutrophil: 0.4 nTPM
- classical monocyte: 0.3 nTPM
- gdT-cell: 0.3 nTPM
Brain region
- cerebellum: 41 nTPM
- cerebral cortex: 32 nTPM
- hippocampal formation: 31 nTPM
- medulla oblongata: 30 nTPM
- white matter: 30 nTPM
- amygdala: 29 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.26
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 1.39
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chromatin remodeling
- DNA methylation-dependent constitutive heterochromatin formation
- embryonic organ development
- in utero embryonic development
- negative regulation of DNA-templated transcription
- negative regulation of transcription by RNA polymerase II
- positive regulation of DNA-templated transcription
- regulation of cell fate specification
- regulation of stem cell differentiation
- response to bisphenol A
- response to estradiol
- response to nutrient levels
- ventricular cardiac muscle tissue development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MBD3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MBD3 as an antibody target. Whether an autoantibody or antibody against MBD3 could matter depends on whether native MBD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MBD3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MBD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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