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    Mbtd1 mbt domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 103537, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Mbtd1provided by MGI
    Official Full Name
    mbt domain containing 1provided by MGI
    Primary source
    MGI:MGI:2143977
    See related
    Ensembl:ENSMUSG00000059474 AllianceGenome:MGI:2143977
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    hemp
    Summary
    Predicted to enable chromatin binding activity and methylated histone binding activity. Acts upstream of or within embryonic skeletal system development. Predicted to be active in nucleus. Is expressed in several structures, including blastocyst; early embryo; forelimb bud; gonad; and neural retina. Orthologous to human MBTD1 (mbt domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E11.5 (RPKM 9.2), CNS E14 (RPKM 8.6) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    11 D; 11 58.86 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (93776635..93837815)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (93885850..93946989)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 35148 Neighboring gene UTP18 small subunit processome component Neighboring gene ES cell cis-regulatory motifs 1a, 3b and 9b Neighboring gene STARR-seq mESC enhancer starr_30442 Neighboring gene STARR-positive B cell enhancer ABC_E1144 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:93829571-93829796 Neighboring gene NME/NM23 nucleoside diphosphate kinase 2 Neighboring gene NME/NM23 nucleoside diphosphate kinase 1 Neighboring gene predicted gene, 35198

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. MBTD1 is associated with Pr-Set7 to stabilize H4K20me1 in mouse oocyte meiotic maturation. Luo YB, et al. Cell Cycle, 2013 Apr 1. PMID 23475131, Free PMC Article
    2. Hemp, an mbt domain-containing protein, plays essential roles in hematopoietic stem cell function and skeletal formation. Honda H, et al. Proc Natl Acad Sci U S A, 2011 Feb 8. PMID 21252303, Free PMC Article
    3. Phenotyping structural abnormalities in mouse embryos using high-resolution episcopic microscopy. Weninger WJ, et al. Dis Model Mech, 2014 Oct. PMID 25256713, Free PMC Article
    4. Systems biology of the 2-cell mouse embryo. Evsikov AV, et al. Cytogenet Genome Res, 2004. PMID 15237213
    5. The genetic program of hematopoietic stem cells. Phillips RL, et al. Science, 2000 Jun 2. PMID 10834841

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MBTD1 preserves adult hematopoietic stem cell pool size and function.
      Title: MBTD1 preserves adult hematopoietic stem cell pool size and function.
    2. MBTD1 knockdown also affected chromosome configuration in GV stage oocytes and chromosome alignment at the MII stage.
      Title: MBTD1 is associated with Pr-Set7 to stabilize H4K20me1 in mouse oocyte meiotic maturation.
    3. Hemp, an mbt-containing protein, plays essential roles in HSC function and skeletal formation.
      Title: Hemp, an mbt domain-containing protein, plays essential roles in hematopoietic stem cell function and skeletal formation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3)  1 citation
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables NuA4 histone acetyltransferase complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methylated histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methylated histone binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryonic skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell cycle ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of nucleosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in site of double-strand break ISO
    Inferred from Sequence Orthology
    more info
    		  

    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_001346525.2 → NP_001333454.1  MBT domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK161472, AK162128, BB028323, BB527030, BC062907, BC064014, BY124943
      Consensus CDS
      CCDS83868.1
      UniProtKB/Swiss-Prot
      Q6P5G3
      Related
      ENSMUSP00000065442.5, ENSMUST00000063718.11

    2. NM_001363336.1 → NP_001350265.1  MBT domain-containing protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AK161472, AK162128, BB028323, BB527030, BC062907, BF162031, BU699337
      Consensus CDS
      CCDS48883.1
      UniProtKB/Swiss-Prot
      Q6P3F0, Q6P5G3, Q8VE12
      Related
      ENSMUSP00000103485.2, ENSMUST00000107853.8
      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    3. NM_134012.4 → NP_598773.2  MBT domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_598773.2

      Status: VALIDATED

      Source sequence(s)
      AK161472, AK162128, BB028323, BB527030, BC062907, BY124943
      Consensus CDS
      CCDS48883.1
      UniProtKB/Swiss-Prot
      Q6P3F0, Q6P5G3, Q8VE12
      Related
      ENSMUSP00000103486.3, ENSMUST00000107854.9
      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      93776635..93837815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006531906.3 → XP_006531969.1  MBT domain-containing protein 1 isoform X7

      See identical proteins and their annotated locations for XP_006531969.1

      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    2. XM_036156180.1 → XP_036012073.1  MBT domain-containing protein 1 isoform X15

      Conserved Domains (1) summary
      smart00561
      Location:473 → 565
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    3. XM_006531902.3 → XP_006531965.1  MBT domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_006531965.1

      Conserved Domains (1) summary
      smart00561
      Location:473 → 565
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    4. XM_006531898.3 → XP_006531961.1  MBT domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_006531961.1

      Conserved Domains (1) summary
      smart00561
      Location:473 → 565
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    5. XM_036156186.1 → XP_036012079.1  MBT domain-containing protein 1 isoform X19

      UniProtKB/TrEMBL
      Q8BZY2
      Conserved Domains (2) summary
      smart00561
      Location:304 → 396
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      cl17705
      Location:10 → 81
      MBT; mbt repeat

    6. XM_006531899.5 → XP_006531962.1  MBT domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_006531962.1

      Conserved Domains (1) summary
      smart00561
      Location:473 → 565
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    7. XM_036156174.1 → XP_036012067.1  MBT domain-containing protein 1 isoform X7

      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    8. XM_006531903.4 → XP_006531966.1  MBT domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_006531966.1

      Conserved Domains (1) summary
      smart00561
      Location:473 → 565
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    9. XM_036156183.1 → XP_036012076.1  MBT domain-containing protein 1 isoform X18

      Conserved Domains (2) summary
      smart00561
      Location:304 → 396
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      cl17705
      Location:10 → 81
      MBT; mbt repeat

    10. XM_036156185.1 → XP_036012078.1  MBT domain-containing protein 1 isoform X19

      UniProtKB/TrEMBL
      Q8BZY2
      Conserved Domains (2) summary
      smart00561
      Location:304 → 396
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      cl17705
      Location:10 → 81
      MBT; mbt repeat

    11. XM_036156188.1 → XP_036012081.1  MBT domain-containing protein 1 isoform X20

      UniProtKB/TrEMBL
      Q8BZY2
      Conserved Domains (2) summary
      smart00561
      Location:304 → 396
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      cl17705
      Location:10 → 81
      MBT; mbt repeat

    12. XM_030245445.1 → XP_030101305.1  MBT domain-containing protein 1 isoform X7

      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    13. XM_030245444.2 → XP_030101304.1  MBT domain-containing protein 1 isoform X7

      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    14. XM_030245447.2 → XP_030101307.1  MBT domain-containing protein 1 isoform X16

      UniProtKB/Swiss-Prot
      Q6P3F0, Q6P5G3, Q8VE12
      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    15. XM_036156182.1 → XP_036012075.1  MBT domain-containing protein 1 isoform X17

      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    16. XM_030245448.2 → XP_030101308.1  MBT domain-containing protein 1 isoform X16

      UniProtKB/Swiss-Prot
      Q6P3F0, Q6P5G3, Q8VE12
      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    17. XM_006531897.4 → XP_006531960.1  MBT domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_006531960.1

      Conserved Domains (1) summary
      smart00561
      Location:473 → 565
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    18. XM_006531887.5 → XP_006531950.1  MBT domain-containing protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006531950.1

      Conserved Domains (1) summary
      smart00561
      Location:495 → 587
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    19. XM_030245446.2 → XP_030101306.1  MBT domain-containing protein 1 isoform X10

      Conserved Domains (1) summary
      smart00561
      Location:495 → 587
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    20. XM_030245441.2 → XP_030101301.1  MBT domain-containing protein 1 isoform X5

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

    21. XM_006531894.5 → XP_006531957.1  MBT domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_006531957.1

      Conserved Domains (1) summary
      smart00561
      Location:473 → 565
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    22. XM_006531900.5 → XP_006531963.1  MBT domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_006531963.1

      Conserved Domains (1) summary
      smart00561
      Location:473 → 565
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    23. XM_036156184.1 → XP_036012077.1  MBT domain-containing protein 1 isoform X18

      Conserved Domains (2) summary
      smart00561
      Location:304 → 396
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      cl17705
      Location:10 → 81
      MBT; mbt repeat

    24. XM_036156187.1 → XP_036012080.1  MBT domain-containing protein 1 isoform X19

      UniProtKB/TrEMBL
      Q8BZY2
      Conserved Domains (2) summary
      smart00561
      Location:304 → 396
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      cl17705
      Location:10 → 81
      MBT; mbt repeat

    25. XM_036156173.1 → XP_036012066.1  MBT domain-containing protein 1 isoform X7

      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    26. XM_036156171.1 → XP_036012064.1  MBT domain-containing protein 1 isoform X3

      Conserved Domains (1) summary
      smart00561
      Location:495 → 587
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    27. XM_030245442.2 → XP_030101302.1  MBT domain-containing protein 1 isoform X5

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

    28. XM_036156177.1 → XP_036012070.1  MBT domain-containing protein 1 isoform X12

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

    29. XM_006531884.5 → XP_006531947.1  MBT domain-containing protein 1 isoform X1

      Conserved Domains (1) summary
      smart00561
      Location:512 → 604
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    30. XM_006531907.5 → XP_006531970.1  MBT domain-containing protein 1 isoform X8

      Conserved Domains (1) summary
      smart00561
      Location:512 → 604
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    31. XM_006531885.5 → XP_006531948.1  MBT domain-containing protein 1 isoform X2

      Conserved Domains (1) summary
      smart00561
      Location:510 → 602
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    32. XM_036156175.1 → XP_036012068.1  MBT domain-containing protein 1 isoform X7

      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    33. XM_036156179.1 → XP_036012072.1  MBT domain-containing protein 1 isoform X15

      Conserved Domains (1) summary
      smart00561
      Location:473 → 565
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    34. XM_006531905.4 → XP_006531968.1  MBT domain-containing protein 1 isoform X7

      See identical proteins and their annotated locations for XP_006531968.1

      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    35. XM_006531891.5 → XP_006531954.1  MBT domain-containing protein 1 isoform X4

      Conserved Domains (1) summary
      smart00561
      Location:494 → 586
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    36. XM_006531909.5 → XP_006531972.1  MBT domain-containing protein 1 isoform X13

      Conserved Domains (1) summary
      smart00561
      Location:512 → 604
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    37. XM_036156178.1 → XP_036012071.1  MBT domain-containing protein 1 isoform X15

      Conserved Domains (1) summary
      smart00561
      Location:473 → 565
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    38. XM_006531908.5 → XP_006531971.1  MBT domain-containing protein 1 isoform X9

      Conserved Domains (1) summary
      smart00561
      Location:510 → 602
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    39. XM_017314202.3 → XP_017169691.1  MBT domain-containing protein 1 isoform X14

      Conserved Domains (1) summary
      smart00561
      Location:510 → 602
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    40. XM_036156181.1 → XP_036012074.1  MBT domain-containing protein 1 isoform X16

      UniProtKB/Swiss-Prot
      Q6P3F0, Q6P5G3, Q8VE12
      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    41. XM_036156172.1 → XP_036012065.1  MBT domain-containing protein 1 isoform X7

      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    42. XM_036156176.1 → XP_036012069.1  MBT domain-containing protein 1 isoform X11

      Conserved Domains (1) summary
      smart00561
      Location:494 → 586
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    43. XM_006531904.4 → XP_006531967.1  MBT domain-containing protein 1 isoform X7

      See identical proteins and their annotated locations for XP_006531967.1

      Conserved Domains (1) summary
      smart00561
      Location:471 → 563
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    44. XM_017314200.3 → XP_017169689.1  MBT domain-containing protein 1 isoform X6

      Conserved Domains (1) summary
      smart00561
      Location:473 → 565
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    45. XM_006531901.5 → XP_006531964.1  MBT domain-containing protein 1 isoform X6

      See identical proteins and their annotated locations for XP_006531964.1

      Conserved Domains (1) summary
      smart00561
      Location:473 → 565
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    46. XM_017314203.1 → XP_017169692.1  MBT domain-containing protein 1 isoform X18

      Conserved Domains (2) summary
      smart00561
      Location:304 → 396
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      cl17705
      Location:10 → 81
      MBT; mbt repeat

    47. XM_017314205.1 → XP_017169694.1  MBT domain-containing protein 1 isoform X19

      UniProtKB/TrEMBL
      Q8BZY2
      Conserved Domains (2) summary
      smart00561
      Location:304 → 396
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      cl17705
      Location:10 → 81
      MBT; mbt repeat
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P5G3.1 GenPept UniProtKB/Swiss-Prot:Q6P5G3

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