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    MBTD1 mbt domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 54799, updated on 5-Jan-2025

    Summary

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    Official Symbol
    MBTD1provided by HGNC
    Official Full Name
    mbt domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:19866
    See related
    Ensembl:ENSG00000011258 MIM:618705; AllianceGenome:HGNC:19866
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SA49P01
    Summary
    Enables NuA4 histone acetyltransferase complex binding activity and methylated histone binding activity. Involved in double-strand break repair via homologous recombination; positive regulation of double-strand break repair via homologous recombination; and regulation of cell cycle. Part of NuA4 histone acetyltransferase complex and nucleosome. Is active in site of double-strand break. [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Broad expression in testis (RPKM 15.1), skin (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MBTD1 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (51177425..51260958, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (52044724..52127757, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (49254786..49337410, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:49230233-49231432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49232587-49233118 Neighboring gene NME1-NME2 readthrough Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:49243725-49244333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8725 Neighboring gene MPRA-validated peak2890 silencer Neighboring gene NME/NM23 nucleoside diphosphate kinase 1 Neighboring gene NME/NM23 nucleoside diphosphate kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8727 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12402 Neighboring gene UTP18 small subunit processome component Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12403 Neighboring gene long intergenic non-protein coding RNA 2071 Neighboring gene NANOG hESC enhancer GRCh37_chr17:49408132-49408651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49409544-49410044 Neighboring gene long intergenic non-protein coding RNA 2072

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Structural studies of a four-MBT repeat protein MBTD1. Eryilmaz J, et al. PLoS One, 2009 Oct 20. PMID 19841675, Free PMC Article
    2. Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma. Dewaele B, et al. Int J Cancer, 2014 Mar 1. PMID 23959973
    3. Recurrent translocation t(10;17)(p15;q21) in minimally differentiated acute myeloid leukemia results in ZMYND11/MBTD1 fusion. de Rooij JD, et al. Genes Chromosomes Cancer, 2016 Mar. PMID 26608508
    4. A novel MBTD1-PHF1 gene fusion in endometrial stromal sarcoma: A case report and literature review. Han L, et al. Genes Chromosomes Cancer, 2020 Jul. PMID 32237188
    5. Long Non-coding RNA H19 Recruits NFYB to Activate MBTD1 and Regulate Doxorubicin Resistance in Lymphoma Cells. Feng L, et al. Mol Biotechnol, 2023 Jun. PMID 36434485

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Long Non-coding RNA H19 Recruits NFYB to Activate MBTD1 and Regulate Doxorubicin Resistance in Lymphoma Cells.
      Title: Long Non-coding RNA H19 Recruits NFYB to Activate MBTD1 and Regulate Doxorubicin Resistance in Lymphoma Cells.
    2. Oncogenic ZMYND11-MBTD1 fusion protein anchors the NuA4/TIP60 histone acetyltransferase complex to the coding region of active genes.
      Title: Oncogenic ZMYND11-MBTD1 fusion protein anchors the NuA4/TIP60 histone acetyltransferase complex to the coding region of active genes.
    3. Structural Basis for EPC1-Mediated Recruitment of MBTD1 into the NuA4/TIP60 Acetyltransferase Complex.
      Title: Structural Basis for EPC1-Mediated Recruitment of MBTD1 into the NuA4/TIP60 Acetyltransferase Complex.
    4. ZMYND11-MBTD1 induces leukemogenesis through hijacking NuA4/TIP60 acetyltransferase complex and a PWWP-mediated chromatin association mechanism.
      Title: ZMYND11-MBTD1 induces leukemogenesis through hijacking NuA4/TIP60 acetyltransferase complex and a PWWP-mediated chromatin association mechanism.
    5. A novel MBTD1-PHF1 gene fusion in endometrial stromal sarcoma: A case report and literature review.
      Title: A novel MBTD1-PHF1 gene fusion in endometrial stromal sarcoma: A case report and literature review.
    6. In this study, we show that this translocation results in an in-frame translocation fusing exon 12 of the tumor suppressor gene ZMYND11 to exon 3 of the chromatin protein MBTD1, encoding a protein of 1,054 amino acids
      Title: Recurrent translocation t(10;17)(p15;q21) in minimally differentiated acute myeloid leukemia results in ZMYND11/MBTD1 fusion.
    7. The chimeric MBTD1-CXorf67 fusion identifies yet another cytogenetically distinct subgroup of low-grade Endometrial stromal sarcomas and offers the opportunity to shed light on the functions of two poorly characterized genes.
      Title: Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma.
    8. structural analysis of a four-MBT repeat protein MBTD1
      Title: Structural studies of a four-MBT repeat protein MBTD1.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20055, FLJ42067, MGC126785

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NuA4 histone acetyltransferase complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methylated histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methylated histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methylated histone binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in embryonic skeletal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of double-strand break repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of NuA4 histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nucleosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    MBT domain-containing 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_017643.3 → NP_060113.2  MBT domain-containing protein 1

      Status: VALIDATED

      Source sequence(s)
      AC005839, AL133577, BC034364, BQ022382, BU195532, CN310792
      Consensus CDS
      CCDS11581.2
      UniProtKB/Swiss-Prot
      Q05BQ5, Q6ZVU7, Q9NXU1
      Related
      ENSP00000468304.1, ENST00000586178.6
      Conserved Domains (1) summary
      smart00561
      Location:468 → 560
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      51177425..51260958 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524926.4 → XP_011523228.1  MBT domain-containing protein 1 isoform X5

      Conserved Domains (1) summary
      smart00561
      Location:470 → 562
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    2. XM_047436322.1 → XP_047292278.1  MBT domain-containing protein 1 isoform X5

    3. XM_011524928.3 → XP_011523230.1  MBT domain-containing protein 1 isoform X5

      Conserved Domains (1) summary
      smart00561
      Location:470 → 562
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    4. XM_011524930.2 → XP_011523232.1  MBT domain-containing protein 1 isoform X6

      Conserved Domains (1) summary
      smart00561
      Location:468 → 560
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    5. XM_047436320.1 → XP_047292276.1  MBT domain-containing protein 1 isoform X4

    6. XM_005257468.6 → XP_005257525.1  MBT domain-containing protein 1 isoform X8

      Conserved Domains (1) summary
      smart00561
      Location:491 → 583
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    7. XM_011524924.3 → XP_011523226.1  MBT domain-containing protein 1 isoform X3

      Conserved Domains (1) summary
      smart00561
      Location:491 → 583
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    8. XM_011524923.3 → XP_011523225.1  MBT domain-containing protein 1 isoform X2

      Conserved Domains (1) summary
      smart00561
      Location:492 → 584
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    9. XM_005257467.6 → XP_005257524.1  MBT domain-containing protein 1 isoform X7

      Conserved Domains (1) summary
      smart00561
      Location:493 → 585
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    10. XM_011524922.3 → XP_011523224.1  MBT domain-containing protein 1 isoform X1

      Conserved Domains (1) summary
      smart00561
      Location:493 → 585
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    11. XM_011524925.2 → XP_011523227.1  MBT domain-containing protein 1 isoform X5

      Conserved Domains (1) summary
      smart00561
      Location:470 → 562
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    12. XM_047436321.1 → XP_047292277.1  MBT domain-containing protein 1 isoform X5

    13. XM_047436323.1 → XP_047292279.1  MBT domain-containing protein 1 isoform X5

    14. XM_011524931.3 → XP_011523233.1  MBT domain-containing protein 1 isoform X9

      Conserved Domains (1) summary
      smart00561
      Location:331 → 423
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    15. XM_047436324.1 → XP_047292280.1  MBT domain-containing protein 1 isoform X10

    16. XM_047436326.1 → XP_047292282.1  MBT domain-containing protein 1 isoform X12

    17. XM_047436325.1 → XP_047292281.1  MBT domain-containing protein 1 isoform X11

    18. XM_011524935.4 → XP_011523237.1  MBT domain-containing protein 1 isoform X14

      Conserved Domains (2) summary
      smart00561
      Location:285 → 375
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      cl17705
      Location:382 → 432
      MBT; mbt repeat

    19. XM_011524934.3 → XP_011523236.1  MBT domain-containing protein 1 isoform X13

      Conserved Domains (2) summary
      smart00561
      Location:287 → 377
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      cl17705
      Location:384 → 434
      MBT; mbt repeat

    20. XM_047436328.1 → XP_047292284.1  MBT domain-containing protein 1 isoform X15

    21. XM_047436327.1 → XP_047292283.1  MBT domain-containing protein 1 isoform X15

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      52044724..52127757 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316555.1 → XP_054172530.1  MBT domain-containing protein 1 isoform X6

    2. XM_054316554.1 → XP_054172529.1  MBT domain-containing protein 1 isoform X5

    3. XM_054316559.1 → XP_054172534.1  MBT domain-containing protein 1 isoform X5

    4. XM_054316553.1 → XP_054172528.1  MBT domain-containing protein 1 isoform X4

    5. XM_054316557.1 → XP_054172532.1  MBT domain-containing protein 1 isoform X8

    6. XM_054316552.1 → XP_054172527.1  MBT domain-containing protein 1 isoform X3

    7. XM_054316551.1 → XP_054172526.1  MBT domain-containing protein 1 isoform X2

    8. XM_054316556.1 → XP_054172531.1  MBT domain-containing protein 1 isoform X7

    9. XM_054316550.1 → XP_054172525.1  MBT domain-containing protein 1 isoform X1

    10. XM_054316558.1 → XP_054172533.1  MBT domain-containing protein 1 isoform X9

    11. XM_054316560.1 → XP_054172535.1  MBT domain-containing protein 1 isoform X10

    12. XM_054316562.1 → XP_054172537.1  MBT domain-containing protein 1 isoform X12

    13. XM_054316561.1 → XP_054172536.1  MBT domain-containing protein 1 isoform X11

    14. XM_054316564.1 → XP_054172539.1  MBT domain-containing protein 1 isoform X14

    15. XM_054316563.1 → XP_054172538.1  MBT domain-containing protein 1 isoform X13

    16. XM_054316566.1 → XP_054172541.1  MBT domain-containing protein 1 isoform X15

    17. XM_054316565.1 → XP_054172540.1  MBT domain-containing protein 1 isoform X15

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q05BQ5.2 GenPept UniProtKB/Swiss-Prot:Q05BQ5

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