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

Gene ID: 103537, updated on 2-Nov-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 NuA4 histone acetyltransferase complex binding activity; chromatin binding activity; and methylated histone binding activity. Acts upstream of or within embryonic skeletal system development. Predicted to be part of NuA4 histone acetyltransferase complex and nucleosome. Predicted to be active in nucleus and site of double-strand break. Is expressed in several structures, including cerebral cortex; early conceptus; gonad; neural retina; and skeletal muscle tissue. Orthologous to human MBTD1 (mbt domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
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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See Mbtd1 in Genome Data Viewer
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 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 preserves adult hematopoietic stem cell pool size and function. Takubo K, et al. Proc Natl Acad Sci U S A, 2023 Aug 8. PMID 37523546, 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. 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
  4. 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
  5. Systems biology of the 2-cell mouse embryo. Evsikov AV, et al. Cytogenet Genome Res, 2004. PMID 15237213

See all (41) 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)
  • Endonuclease-mediated (2) 
  • Targeted (3)  1 citation

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 IEA
Inferred from Electronic Annotation
more info
  
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 methylated histone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables methylated histone binding ISO
Inferred from Sequence Orthology
more info
  
enables methylated histone binding ISS
Inferred from Sequence or Structural Similarity
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in double-strand break repair via homologous recombination ISS
Inferred from Sequence or Structural Similarity
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 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
  
part_of NuA4 histone acetyltransferase complex ISS
Inferred from Sequence or Structural Similarity
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
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in site of double-strand break IEA
Inferred from Electronic Annotation
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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