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

Gene ID: 54799, updated on 5-Mar-2024

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 methylated histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to act upstream of or within embryonic skeletal system development. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 15.1), skin (RPKM 6.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q21.33
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (51177425..51260958, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (52044724..52127757, complement)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. 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
  2. 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
  3. 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
  4. Structural studies of a four-MBT repeat protein MBTD1. Eryilmaz J, et al. PLoS One, 2009 Oct 20. PMID 19841675, Free PMC Article
  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 (31) 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)

Genotypes

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

    See identical proteins and their annotated locations for NP_060113.2

    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_2023_10

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

    See identical proteins and their annotated locations for XP_011523228.1

    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

    See identical proteins and their annotated locations for XP_011523230.1

    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

    See identical proteins and their annotated locations for XP_011523232.1

    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

    See identical proteins and their annotated locations for XP_005257525.1

    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

    See identical proteins and their annotated locations for XP_005257524.1

    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

    See identical proteins and their annotated locations for XP_011523227.1

    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

    See identical proteins and their annotated locations for XP_011523233.1

    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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