U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 85509, updated on 28-Oct-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001393532.1NP_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:80172
      MBD_C; C-terminal domain of methyl-CpG binding protein 2 and 3
      pfam16564
      Location:976
      MBDa; p55-binding region of Methyl-CpG-binding domain proteins MBD
    2. NM_001393533.1NP_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:80172
      MBD_C; C-terminal domain of methyl-CpG binding protein 2 and 3
      pfam16564
      Location:976
      MBDa; p55-binding region of Methyl-CpG-binding domain proteins MBD
    3. NM_001393534.1NP_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:80172
      MBD_C; C-terminal domain of methyl-CpG binding protein 2 and 3
      pfam16564
      Location:976
      MBDa; p55-binding region of Methyl-CpG-binding domain proteins MBD
    4. NM_145208.3NP_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:80172
      MBD_C; C-terminal domain of methyl-CpG binding protein 2 and 3
      pfam16564
      Location:976
      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)