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    MBD3L1 methyl-CpG binding domain protein 3 like 1 [ Homo sapiens (human) ]

    Gene ID: 85509, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MBD3L1provided by HGNC
    Official Full Name
    methyl-CpG binding domain protein 3 like 1provided by HGNC
    Primary source
    HGNC:HGNC:15774
    See related
    Ensembl:ENSG00000170948 MIM:607963; AllianceGenome:HGNC:15774
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MBD3L
    Summary
    This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, suggesting that the protein plays a role in the postmeiotic stages of male germ cell development. [provided by RefSeq, Jul 2008]
    Orthologs
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    Genomic context

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    See MBD3L1 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (8832377..8843319)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (8943334..8954286)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (8943053..8953995)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene actin like 9 Neighboring gene ribosomal protein L23a pseudogene 78 Neighboring gene olfactory receptor family 2 subfamily Z member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10036 Neighboring gene zinc finger protein 558 Neighboring gene mucin 16, cell surface associated Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:9070485-9071684 Neighboring gene MPRA-validated peak3341 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:9150106-9151305 Neighboring gene bolA family member 3 pseudogene 2 Neighboring gene tRNA-Gln (anticodon TTG) 8-1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins. Campbell AE, et al. Elife, 2018 Mar 13. PMID 29533181, Free PMC Article
    2. MBD3L1 and MBD3L2, two new proteins homologous to the methyl-CpG-binding proteins MBD2 and MBD3: characterization of MBD3L1 as a testis-specific transcriptional repressor. Jiang CL, et al. Genomics, 2002 Dec. PMID 12504854
    3. Unique features of the anti-parallel, heterodimeric coiled-coil interaction between methyl-cytosine binding domain 2 (MBD2) homologues and GATA zinc finger domain containing 2A (GATAD2A/p66α). Walavalkar NM, et al. J Biol Chem, 2013 Feb 1. PMID 23239876, Free PMC Article
    4. MBD3L1 is a transcriptional repressor that interacts with methyl-CpG-binding protein 2 (MBD2) and components of the NuRD complex. Jiang CL, et al. J Biol Chem, 2004 Dec 10. PMID 15456747
    5. The metastasis-associated proteins 1 and 2 form distinct protein complexes with histone deacetylase activity. Yao YL, et al. J Biol Chem, 2003 Oct 24. PMID 12920132

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These and other approaches identified the Nucleosome Remodeling Deacetylase (NuRD) and Chromatin Assembly Factor 1 (CAF-1) complexes as necessary for DUX4 repression in human skeletal muscle cells and induced pluripotent stem (iPS) cells.Furthermore, DUX4-induced expression of MBD3L proteins partly relieved this repression in FSHD muscle cells.
      Title: NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins.
    2. These factors lead to a binding affinity hierarchy of p66alpha for the different MBD2 homologues (MBD2 approximately MBD3 > MBD3L1 approximately MBD3L2).
      Title: Unique features of the anti-parallel, heterodimeric coiled-coil interaction between methyl-cytosine binding domain 2 (MBD2) homologues and GATA zinc finger domain containing 2A (GATAD2A/p66α).
    3. interacts with methyl-CpG-binding protein 2 (MBD2) and components of the NuRD complex
      Title: MBD3L1 is a transcriptional repressor that interacts with methyl-CpG-binding protein 2 (MBD2) and components of the NuRD complex.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138263, MGC138269

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables methyl-CpG binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA methylation-dependent constitutive heterochromatin formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    methyl-CpG-binding domain protein 3-like 1
    Names
    MBD3-like protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001393532.1 → NP_001380461.1  methyl-CpG-binding domain protein 3-like 1

      Status: REVIEWED

      Source sequence(s)
      AC008734
      Consensus CDS
      CCDS12209.1
      UniProtKB/Swiss-Prot
      B5BUM6, Q2M291, Q8WWY6
      Related
      ENSP00000471575.1, ENST00000595891.2
      Conserved Domains (2) summary
      pfam14048
      Location:80 → 172
      MBD_C; C-terminal domain of methyl-CpG binding protein 2 and 3
      pfam16564
      Location:9 → 76
      MBDa; p55-binding region of Methyl-CpG-binding domain proteins MBD

    2. NM_001393533.1 → NP_001380462.1  methyl-CpG-binding domain protein 3-like 1

      Status: REVIEWED

      Source sequence(s)
      AC008734
      Consensus CDS
      CCDS12209.1
      UniProtKB/Swiss-Prot
      B5BUM6, Q2M291, Q8WWY6
      Conserved Domains (2) summary
      pfam14048
      Location:80 → 172
      MBD_C; C-terminal domain of methyl-CpG binding protein 2 and 3
      pfam16564
      Location:9 → 76
      MBDa; p55-binding region of Methyl-CpG-binding domain proteins MBD

    3. NM_001393534.1 → NP_001380463.1  methyl-CpG-binding domain protein 3-like 1

      Status: REVIEWED

      Source sequence(s)
      AC008734
      Consensus CDS
      CCDS12209.1
      UniProtKB/Swiss-Prot
      B5BUM6, Q2M291, Q8WWY6
      Conserved Domains (2) summary
      pfam14048
      Location:80 → 172
      MBD_C; C-terminal domain of methyl-CpG binding protein 2 and 3
      pfam16564
      Location:9 → 76
      MBDa; p55-binding region of Methyl-CpG-binding domain proteins MBD

    4. NM_145208.3 → NP_660209.2  methyl-CpG-binding domain protein 3-like 1

      See identical proteins and their annotated locations for NP_660209.2

      Status: REVIEWED

      Source sequence(s)
      AC008734
      Consensus CDS
      CCDS12209.1
      UniProtKB/Swiss-Prot
      B5BUM6, Q2M291, Q8WWY6
      Related
      ENSP00000304198.2, ENST00000305625.2
      Conserved Domains (2) summary
      pfam14048
      Location:80 → 172
      MBD_C; C-terminal domain of methyl-CpG binding protein 2 and 3
      pfam16564
      Location:9 → 76
      MBDa; p55-binding region of Methyl-CpG-binding domain proteins MBD

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      8832377..8843319
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791807.1 Reference GRCh38.p14 PATCHES

      Range
      67320..78262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      8943334..8954286
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WWY6.2 GenPept UniProtKB/Swiss-Prot:Q8WWY6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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