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

Gene ID: 85509, updated on 7-Apr-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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Location:
19p13.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (8832377..8843319)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (8943334..8954286)
105.20220307 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 (13) 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)

Genotypes

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 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_2023_10

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

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