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

Gene ID: 244329, updated on 3-Apr-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 cytoplasm and cytoskeleton. 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, Apr 2022]
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. Chimeric peptide containing both B and T cells epitope of tumor-associated antigen L6 enhances anti-tumor effects in HLA-A2 transgenic mice. Lin SI, et al. Cancer Lett, 2016 Jul 28. PMID 27130449
  2. 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
  3. 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
  4. 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
  5. Targeting beta2-microglobulin for induction of tumor apoptosis in human hematological malignancies. Yang J, et al. Cancer Cell, 2006 Oct. PMID 17045207

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. MCPH1 is a bona fide tumor suppressor gene.
    Title: Mcph1/Brit1 deficiency promotes genomic instability and tumor formation in a mouse model.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Data did not show clear signs of premature malignant disease development due to the perturbed Mcph1 function.
    Title: Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function.
  9. Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation
    Title: Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1.
  10. MCPH1 is essential for mitotic and meiotic recombination DNA repair and maintaining genomic stability.
    Title: BRIT1/MCPH1 is essential for mitotic and meiotic recombination DNA repair and maintaining genomic stability in mice.
Submit: New GeneRIF Correction

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 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 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 cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton 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

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

    Status: VALIDATED

    Source sequence(s)
    AC104883, AC122206, AC129567

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

    Status: VALIDATED

    Source sequence(s)
    AC104883, AC122206, AC129567

  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

    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: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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