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    Mcph1 microcephaly, primary autosomal recessive 1 [ Mus musculus (house mouse) ]

    Gene ID: 244329, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mcph1provided by MGI
    Official Full Name
    microcephaly, primary autosomal recessive 1provided by MGI
    Primary source
    MGI:MGI:2443308
    See related
    Ensembl:ENSMUSG00000039842 AllianceGenome:MGI:2443308
    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
    MCT; BRIT1; 5430437K10Rik; D030046N04Rik; Tg(HLA-A2.1)1Enge
    Summary
    Predicted to enable identical protein binding activity. Acts upstream of or within several processes, including establishment of mitotic spindle orientation; neuronal stem cell population maintenance; and protein localization to centrosome. Predicted to be located in centrosome and cytoplasm. Is expressed in brain. Used to study microcephaly. Human ortholog(s) of this gene implicated in breast cancer; endometrial cancer; microcephaly; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 1. Orthologous to human MCPH1 (microcephalin 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in liver E14 (RPKM 1.8), liver E14.5 (RPKM 1.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mcph1 in Genome Data Viewer
    Location:
    8 A1.3; 8 10.24 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (18645132..18858110)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (18595116..18808089)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 40463 Neighboring gene predicted gene, 24469 Neighboring gene predicted gene, 35740 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:18595081-18595264 Neighboring gene predicted gene, 25763 Neighboring gene predicted gene, 16725 Neighboring gene predicted gene 17149 Neighboring gene angiopoietin 2 Neighboring gene predicted gene, 53403 Neighboring gene STARR-positive B cell enhancer mm9_chr8:18846064-18846365 Neighboring gene STARR-seq mESC enhancer starr_20847 Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 5

    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. Aging-induced MCPH1 translocation activates necroptosis and impairs hematopoietic stem cell function. He H, et al. Nat Aging, 2024 Apr. PMID 38632351
    2. Targeting beta2-microglobulin for induction of tumor apoptosis in human hematological malignancies. Yang J, et al. Cancer Cell, 2006 Oct. PMID 17045207
    3. Engrafted human cells generate adaptive immune responses to Mycobacterium bovis BCG infection in humanized mice. Lee J, et al. BMC Immunol, 2013 Dec 7. PMID 24313934, Free PMC Article
    4. Adenoviral delivery of recombinant hepatitis B virus expressing foreign antigenic epitopes for immunotherapy of persistent viral infection. Wang Z, et al. J Virol, 2014 Mar. PMID 24371056, Free PMC Article
    5. Physical detection of influenza A epitopes identifies a stealth subset on human lung epithelium evading natural CD8 immunity. Keskin DB, et al. Proc Natl Acad Sci U S A, 2015 Feb 17. PMID 25646416, Free PMC Article

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis.
      Title: Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis.
    2. Microcephaly Gene Mcph1 Deficiency Induces p19ARF-Dependent Cell Cycle Arrest and Senescence.
      Title: Microcephaly Gene Mcph1 Deficiency Induces p19ARF-Dependent Cell Cycle Arrest and Senescence.
    3. Aging-induced MCPH1 translocation activates necroptosis and impairs hematopoietic stem cell function.
      Title: Aging-induced MCPH1 translocation activates necroptosis and impairs hematopoietic stem cell function.
    4. The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice.
      Title: The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice.
    5. The N-terminal BRCT domain determines MCPH1 function in brain development and fertility.
      Title: The N-terminal BRCT domain determines MCPH1 function in brain development and fertility.
    6. MCPH1 is a bona fide tumor suppressor gene.
      Title: Mcph1/Brit1 deficiency promotes genomic instability and tumor formation in a mouse model.
    7. Mcph1-deficient mice reveal a role for MCPH1 in otitis media. Expression of Mcph1 in the epithelial cells of middle ear cavities supported its involvement in the development of otitis media.
      Title: Mcph1-deficient mice reveal a role for MCPH1 in otitis media.
    8. MCPH1, through its function in the Chk1-Cdc25-Cdk1 pathway to couple the centrosome cycle with mitosis, is required for precise mitotic spindle orientation and thereby regulates the progenitor division mode to maintain brain size.
      Title: MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway.
    9. VIP blockade induces microcephaly through Mcph1 signaling; VIP/Mcph1/Chk1 signaling is key for normal cortical development
      Title: VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling.
    10. SET is an important regulator of chromosome condensation/decondensation and disruption of the MCPH1-SET interaction might be important for the pathogenesis of primary microcephaly
      Title: SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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

    • MGC66518

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within bone development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cerebral cortex development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within establishment of mitotic spindle orientation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neuronal stem cell population maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization to centrosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of centrosome cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of chromosome condensation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    microcephalin

    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_001427074.1 → NP_001414003.1  microcephalin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567

    2. NM_001427075.1 → NP_001414004.1  microcephalin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567
      UniProtKB/TrEMBL
      Q3UGB7

    3. NM_001427077.1 → NP_001414006.1  microcephalin isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567
      UniProtKB/TrEMBL
      Q3UGB7

    4. NM_001427078.1 → NP_001414007.1  microcephalin isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567
      UniProtKB/TrEMBL
      Q3UGB7

    5. NM_001427079.1 → NP_001414008.1  microcephalin isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567

    6. NM_001427080.1 → NP_001414009.1  microcephalin isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567

    7. NM_001427081.1 → NP_001414010.1  microcephalin isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567

    8. NM_173189.4 → NP_775281.2  microcephalin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567
      Consensus CDS
      CCDS22124.1
      UniProtKB/Swiss-Prot
      Q7TT79, Q8BNI9, Q8C9I7
      UniProtKB/TrEMBL
      Q3UGB7
      Related
      ENSMUSP00000037000.9, ENSMUST00000039412.15
      Conserved Domains (4) summary
      cd00027
      Location:637 → 705
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
      pfam12258
      Location:226 → 594
      Microcephalin; Microcephalin protein
      pfam12738
      Location:15 → 81
      PTCB-BRCT; twin BRCT domain
      cl00038
      Location:755 → 819
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      18645132..18858110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011242056.3 → XP_011240358.1  microcephalin isoform X1

      Conserved Domains (4) summary
      cd17716
      Location:14 → 92
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:696 → 771
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:797 → 873
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:252 → 620
      Microcephalin; Microcephalin protein

    2. XM_011242057.3 → XP_011240359.1  microcephalin isoform X2

      Conserved Domains (3) summary
      cd17716
      Location:14 → 92
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:696 → 771
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:252 → 620
      Microcephalin; Microcephalin protein

    3. XM_011242058.3 → XP_011240360.1  microcephalin isoform X5

      Conserved Domains (4) summary
      cd17716
      Location:14 → 92
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:661 → 736
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:762 → 838
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:252 → 620
      Microcephalin; Microcephalin protein

    4. XM_017312788.2 → XP_017168277.1  microcephalin isoform X3

      Conserved Domains (4) summary
      cd17716
      Location:14 → 92
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:689 → 764
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:790 → 866
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:245 → 613
      Microcephalin; Microcephalin protein

    5. XM_017312792.2 → XP_017168281.1  microcephalin isoform X19

      Conserved Domains (3) summary
      cd17716
      Location:14 → 92
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:313 → 388
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:414 → 490
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins

    6. XM_011242059.4 → XP_011240361.1  microcephalin isoform X7

      UniProtKB/TrEMBL
      Q3UGB7
      Conserved Domains (3) summary
      cd17716
      Location:14 → 92
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:696 → 771
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:252 → 620
      Microcephalin; Microcephalin protein

    7. XM_036154019.1 → XP_036009912.1  microcephalin isoform X10

      UniProtKB/TrEMBL
      Q3UGB7
      Conserved Domains (3) summary
      cd17716
      Location:14 → 92
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:661 → 736
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:250 → 623
      Microcephalin; Microcephalin protein

    8. XM_030243532.2 → XP_030099392.1  microcephalin isoform X11

      UniProtKB/TrEMBL
      Q3UGB7
      Conserved Domains (3) summary
      cd17716
      Location:14 → 92
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:635 → 710
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:226 → 594
      Microcephalin; Microcephalin protein

    9. XM_017312789.3 → XP_017168278.1  microcephalin isoform X8

      UniProtKB/TrEMBL
      Q3UGB7
      Conserved Domains (3) summary
      cd17716
      Location:14 → 92
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:696 → 771
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:252 → 620
      Microcephalin; Microcephalin protein

    10. XM_036154018.1 → XP_036009911.1  microcephalin isoform X9

      UniProtKB/TrEMBL
      Q3UGB7
      Conserved Domains (3) summary
      cd17716
      Location:14 → 92
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:696 → 771
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:250 → 623
      Microcephalin; Microcephalin protein

    11. XM_036154020.1 → XP_036009913.1  microcephalin isoform X14

      UniProtKB/TrEMBL
      E9PX19
      Related
      ENSMUSP00000131616.2, ENSMUST00000146819.8
      Conserved Domains (2) summary
      cd17716
      Location:14 → 92
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:250 → 623
      Microcephalin; Microcephalin protein

    12. XM_030243533.2 → XP_030099393.1  microcephalin isoform X13

      Conserved Domains (3) summary
      cd17736
      Location:496 → 571
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:597 → 673
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:52 → 420
      Microcephalin; Microcephalin protein

    13. XM_017312791.3 → XP_017168280.1  microcephalin isoform X17

      UniProtKB/Swiss-Prot
      Q7TT79
      Conserved Domains (2) summary
      cd17736
      Location:461 → 536
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:52 → 420
      Microcephalin; Microcephalin protein

    14. XM_030243534.2 → XP_030099394.1  microcephalin isoform X16

      Conserved Domains (3) summary
      cd17736
      Location:461 → 536
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:562 → 638
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:52 → 420
      Microcephalin; Microcephalin protein

    15. XM_036154021.1 → XP_036009914.1  microcephalin isoform X18

      Conserved Domains (2) summary
      cd17736
      Location:440 → 515
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:29 → 402
      Microcephalin; Microcephalin protein

    16. XM_006508790.3 → XP_006508853.1  microcephalin isoform X15

      Conserved Domains (3) summary
      cd17736
      Location:475 → 550
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:576 → 652
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:31 → 399
      Microcephalin; Microcephalin protein

    17. XM_017312790.2 → XP_017168279.1  microcephalin isoform X12

      Conserved Domains (3) summary
      cd17736
      Location:515 → 590
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:616 → 692
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:71 → 439
      Microcephalin; Microcephalin protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TT79.1 GenPept UniProtKB/Swiss-Prot:Q7TT79

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