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    MCPH1 Microcephalin [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 36272, updated on 9-Dec-2024

    Summary

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    Official Symbol
    MCPH1provided by FlyBase
    Official Full Name
    Microcephalinprovided by FlyBase
    Primary source
    FLYBASE:FBgn0260959
    Locus tag
    Dmel_CG42572
    See related
    AllianceGenome:FB:FBgn0260959
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    awol; CG13184; CG30038; CG42572; CG8981; dMCPH1; Dmcph1; Dmel\CG42572; mcph1; p91
    Old locus tag
    Dmel_CG30038; Dmel_CG8981
    Summary
    Involved in mitotic cell cycle, embryonic; mushroom body development; and pole cell formation. Located in nucleus. Is expressed in several structures, including embryonic central brain neurons; gonad; larval brain; lateral cord neurons; and spermatozoon. 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]
    Orthologs
    all
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    Genomic context

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    See MCPH1 in Genome Data Viewer
    Location:
    48C5-48C5; 2-65 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2R NT_033778.4 (11895997..11903918, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2R NT_033778.3 (7783502..7791423, complement)

    Chromosome 2R - NT_033778.4Genomic Context describing neighboring genes Neighboring gene cutoff Neighboring gene ncRNA Neighboring gene Endoplasmic reticulum p60 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 Neighboring gene Zinc/iron regulated transporter-related protein 48C Neighboring gene rebuf Neighboring gene long non-coding RNA:CR44305

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Evolution of primary microcephaly genes and the enlargement of primate brains. Ponting C, et al. Curr Opin Genet Dev, 2005 Jun. PMID 15917198
    2. The Drosophila MCPH1-B isoform is a substrate of the APCCdh1 E3 ubiquitin ligase complex. Hainline SG, et al. Biol Open, 2014 Jun 27. PMID 24972868, Free PMC Article
    3. Microcephalin coordinates mitosis in the syncytial Drosophila embryo. Brunk K, et al. J Cell Sci, 2007 Oct 15. PMID 17895363
    4. TCTP directly regulates ATM activity to control genome stability and organ development in Drosophila melanogaster. Hong ST, et al. Nat Commun, 2013. PMID 24352200
    5. The Drosophila homolog of MCPH1, a human microcephaly gene, is required for genomic stability in the early embryo. Rickmyre JL, et al. J Cell Sci, 2007 Oct 15. PMID 17895362

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic cell cycle, embryonic IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mushroom body development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in pole cell formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    microcephalin
    Names
    CG42572-PA
    CG42572-PB
    CG42572-PC
    CG42572-PD
    MCPH1-PA
    MCPH1-PB
    MCPH1-PC
    MCPH1-PD
    absent without leave

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NT_033778.4 Reference assembly

      Range
      11895997..11903918 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001169652.2 → NP_001163123.1  microcephalin, isoform D [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001163123.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      E1JH39
      Conserved Domains (2) summary
      cd00027
      Location:812 → 873
      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 ...
      pfam12738
      Location:187 → 251
      PTCB-BRCT; twin BRCT domain

    2. NM_001169651.2 → NP_001163122.1  microcephalin, isoform C [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001163122.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A5YTR9
      Conserved Domains (2) summary
      cd00027
      Location:765 → 826
      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 ...
      pfam12738
      Location:140 → 204
      PTCB-BRCT; twin BRCT domain

    3. NM_136867.3 → NP_610711.1  microcephalin, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_610711.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q7JUM5
      Related
      FBpp0290644
      Conserved Domains (1) summary
      pfam12738
      Location:187 → 251
      PTCB-BRCT; twin BRCT domain

    4. NM_165852.2 → NP_725088.1  microcephalin, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_725088.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A1Z8Q7
      Related
      FBpp0290643
      Conserved Domains (1) summary
      pfam12738
      Location:140 → 204
      PTCB-BRCT; twin BRCT domain
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A1Z8Q7 A1Z8Q7
    A5YTR9 A5YTR9
    E1JH39 E1JH39
    Q7JUM5 Q7JUM5

    Gene LinkOut

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