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

    Gene ID: 244329, updated on 28-Aug-2018

    Summary

    Official Symbol
    Mcph1provided by MGI
    Official Full Name
    microcephaly, primary autosomal recessive 1provided by MGI
    Primary source
    MGI:MGI:2443308
    See related
    Ensembl:ENSMUSG00000039842 Vega:OTTMUSG00000020492
    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
    Expression
    Ubiquitous expression in liver E14 (RPKM 1.8), liver E14.5 (RPKM 1.8) and 28 other tissues See more
    Orthologs

    Genomic context

    See Mcph1 in Genome Data Viewer
    Location:
    8; 8 A1.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 8 NC_000074.6 (18595136..18805912)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (18595173..18803189)

    Chromosome 8 - NC_000074.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 40463 Neighboring gene predicted gene, 35740 Neighboring gene AP-3 complex subunit sigma-1 pseudogene Neighboring gene angiopoietin 2 Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) Neighboring gene predicted gene, 35934

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Clone Names

    • MGC66518

    Gene Ontology Provided by MGI

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

    NCBI Reference Sequences (RefSeq)

    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_173189.3NP_775281.2  microcephalin

      See identical proteins and their annotated locations for NP_775281.2

      Status: VALIDATED

      Source sequence(s)
      AK083572, BC056924
      Consensus CDS
      CCDS22124.1
      UniProtKB/Swiss-Prot
      Q7TT79
      Related
      ENSMUSP00000037000.8, OTTMUSP00000022321, ENSMUST00000039412.14
      Conserved Domains (4) summary
      cd00027
      Location:637705
      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:226594
      Microcephalin; Microcephalin protein
      pfam12738
      Location:1581
      PTCB-BRCT; twin BRCT domain
      cl00038
      Location:755819
      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: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000074.6 Reference GRCm38.p4 C57BL/6J

      Range
      18595136..18805912
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006508786.2XP_006508849.1  microcephalin isoform X4

      Conserved Domains (4) summary
      cd00027
      Location:672740
      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:226594
      Microcephalin; Microcephalin protein
      pfam12738
      Location:1581
      PTCB-BRCT; twin BRCT domain
      cl00038
      Location:790854
      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 ...
    2. XM_017312791.1XP_017168280.1  microcephalin isoform X10

      UniProtKB/Swiss-Prot
      Q7TT79
      Conserved Domains (2) summary
      cd00027
      Location:463531
      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:52420
      Microcephalin; Microcephalin protein
    3. XM_011242057.2XP_011240359.1  microcephalin isoform X2

      Conserved Domains (3) summary
      cd00027
      Location:698766
      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:252620
      Microcephalin; Microcephalin protein
      pfam12738
      Location:1581
      PTCB-BRCT; twin BRCT domain
    4. XM_011242058.2XP_011240360.1  microcephalin isoform X5

      Conserved Domains (4) summary
      cd00027
      Location:663731
      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:252620
      Microcephalin; Microcephalin protein
      pfam12738
      Location:1581
      PTCB-BRCT; twin BRCT domain
      cl00038
      Location:781845
      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 ...
    5. XM_017312792.1XP_017168281.1  microcephalin isoform X11

    6. XM_011242056.2XP_011240358.1  microcephalin isoform X1

      Conserved Domains (4) summary
      cd00027
      Location:698766
      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:252620
      Microcephalin; Microcephalin protein
      pfam12738
      Location:1581
      PTCB-BRCT; twin BRCT domain
      cl00038
      Location:816880
      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 ...
    7. XM_017312788.1XP_017168277.1  microcephalin isoform X3

    8. XM_011242059.2XP_011240361.1  microcephalin isoform X6

      Conserved Domains (3) summary
      cd00027
      Location:698766
      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:252620
      Microcephalin; Microcephalin protein
      pfam12738
      Location:1581
      PTCB-BRCT; twin BRCT domain
    9. XM_017312789.1XP_017168278.1  microcephalin isoform X7

    10. XM_006508790.2XP_006508853.1  microcephalin isoform X9

      Conserved Domains (3) summary
      cd00027
      Location:477545
      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:31399
      Microcephalin; Microcephalin protein
      cl00038
      Location:595659
      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 ...
    11. XM_017312790.1XP_017168279.1  microcephalin isoform X8

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