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

    Gene ID: 244329, updated on 3-Dec-2024

    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 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, Nov 2024]
    Expression
    Ubiquitous expression in liver E14 (RPKM 1.8), liver E14.5 (RPKM 1.8) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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 Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001427074.1NP_001414003.1  microcephalin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567
    2. NM_001427075.1NP_001414004.1  microcephalin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567
      UniProtKB/TrEMBL
      Q3UGB7
    3. NM_001427077.1NP_001414006.1  microcephalin isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567
      UniProtKB/TrEMBL
      Q3UGB7
    4. NM_001427078.1NP_001414007.1  microcephalin isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567
      UniProtKB/TrEMBL
      Q3UGB7
    5. NM_001427079.1NP_001414008.1  microcephalin isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567
    6. NM_001427080.1NP_001414009.1  microcephalin isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567
    7. NM_001427081.1NP_001414010.1  microcephalin isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC104883, AC122206, AC129567
    8. NM_173189.4NP_775281.2  microcephalin isoform 3

      See identical proteins and their annotated locations for NP_775281.2

      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: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: 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_011242056.3XP_011240358.1  microcephalin isoform X1

      Conserved Domains (4) summary
      cd17716
      Location:1492
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:696771
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:797873
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:252620
      Microcephalin; Microcephalin protein
    2. XM_011242057.3XP_011240359.1  microcephalin isoform X2

      Conserved Domains (3) summary
      cd17716
      Location:1492
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:696771
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:252620
      Microcephalin; Microcephalin protein
    3. XM_011242058.3XP_011240360.1  microcephalin isoform X5

      Conserved Domains (4) summary
      cd17716
      Location:1492
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:661736
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:762838
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:252620
      Microcephalin; Microcephalin protein
    4. XM_017312788.2XP_017168277.1  microcephalin isoform X3

      Conserved Domains (4) summary
      cd17716
      Location:1492
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:689764
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:790866
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:245613
      Microcephalin; Microcephalin protein
    5. XM_017312792.2XP_017168281.1  microcephalin isoform X19

      Conserved Domains (3) summary
      cd17716
      Location:1492
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:313388
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:414490
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
    6. XM_011242059.4XP_011240361.1  microcephalin isoform X7

      UniProtKB/TrEMBL
      Q3UGB7
      Conserved Domains (3) summary
      cd17716
      Location:1492
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:696771
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:252620
      Microcephalin; Microcephalin protein
    7. XM_036154019.1XP_036009912.1  microcephalin isoform X10

      UniProtKB/TrEMBL
      Q3UGB7
      Conserved Domains (3) summary
      cd17716
      Location:1492
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:661736
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:250623
      Microcephalin; Microcephalin protein
    8. XM_030243532.2XP_030099392.1  microcephalin isoform X11

      UniProtKB/TrEMBL
      Q3UGB7
      Conserved Domains (3) summary
      cd17716
      Location:1492
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:635710
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:226594
      Microcephalin; Microcephalin protein
    9. XM_017312789.3XP_017168278.1  microcephalin isoform X8

      UniProtKB/TrEMBL
      Q3UGB7
      Conserved Domains (3) summary
      cd17716
      Location:1492
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:696771
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:252620
      Microcephalin; Microcephalin protein
    10. XM_036154018.1XP_036009911.1  microcephalin isoform X9

      UniProtKB/TrEMBL
      Q3UGB7
      Conserved Domains (3) summary
      cd17716
      Location:1492
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      cd17736
      Location:696771
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:250623
      Microcephalin; Microcephalin protein
    11. XM_036154020.1XP_036009913.1  microcephalin isoform X14

      UniProtKB/TrEMBL
      E9PX19
      Related
      ENSMUSP00000131616.2, ENSMUST00000146819.8
      Conserved Domains (2) summary
      cd17716
      Location:1492
      BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:250623
      Microcephalin; Microcephalin protein
    12. XM_030243533.2XP_030099393.1  microcephalin isoform X13

      Conserved Domains (3) summary
      cd17736
      Location:496571
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:597673
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:52420
      Microcephalin; Microcephalin protein
    13. XM_017312791.3XP_017168280.1  microcephalin isoform X17

      UniProtKB/Swiss-Prot
      Q7TT79
      Conserved Domains (2) summary
      cd17736
      Location:461536
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:52420
      Microcephalin; Microcephalin protein
    14. XM_030243534.2XP_030099394.1  microcephalin isoform X16

      Conserved Domains (3) summary
      cd17736
      Location:461536
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:562638
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:52420
      Microcephalin; Microcephalin protein
    15. XM_036154021.1XP_036009914.1  microcephalin isoform X18

      Conserved Domains (2) summary
      cd17736
      Location:440515
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:29402
      Microcephalin; Microcephalin protein
    16. XM_006508790.3XP_006508853.1  microcephalin isoform X15

      Conserved Domains (3) summary
      cd17736
      Location:475550
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:576652
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:31399
      Microcephalin; Microcephalin protein
    17. XM_017312790.2XP_017168279.1  microcephalin isoform X12

      Conserved Domains (3) summary
      cd17736
      Location:515590
      BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins
      cd17751
      Location:616692
      BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins
      pfam12258
      Location:71439
      Microcephalin; Microcephalin protein