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    MCPH1 microcephalin 1 [ Homo sapiens (human) ]

    Gene ID: 79648, updated on 8-Aug-2016
    Official Symbol
    MCPH1provided by HGNC
    Official Full Name
    microcephalin 1provided by HGNC
    Primary source
    HGNC:HGNC:6954
    See related
    Ensembl:ENSG00000147316 HPRD:06174; MIM:607117; Vega:OTTHUMG00000163618
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCT; BRIT1
    Summary
    This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
    Orthologs
    Location:
    8p23.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (6406592..6648505)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6264113..6501140)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377797 Neighboring gene uncharacterized LOC100287015 Neighboring gene adenylate kinase isoenzyme 6 pseudogene Neighboring gene angiopoietin 2 Neighboring gene MCPH1 antisense RNA 1 Neighboring gene microRNA 8055 Neighboring gene protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) pseudogene Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 5 Neighboring gene microRNA 4659a Neighboring gene microRNA 4659b

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
    NHGRI GWA Catalog
    Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.
    NHGRI GWA Catalog
    Genome-wide association study of epirubicin-induced leukopenia in Japanese patients.
    NHGRI GWA Catalog
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Condensation of Prophase Chromosomes, organism-specific biosystem (from REACTOME)
      Condensation of Prophase Chromosomes, organism-specific biosystemIn mitotic prophase, the action of the condensin II complex enables initial chromosome condensation.The condensin II complex subunit NCAPD3 binds monomethylated histone H4 (H4K20me1), thereby associa...
    • M Phase, organism-specific biosystem (from REACTOME)
      M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
    • Mitotic Prophase, organism-specific biosystem (from REACTOME)
      Mitotic Prophase, organism-specific biosystemDuring prophase, the chromatin in the nucleus condenses, and the nucleolus disappears. Centrioles begin moving to the opposite poles or sides of the cell. Some of the fibers that extend from the cen...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ12847

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic cell cycle arrest IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule organizing center IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    microcephalin
    Names
    BRCT-repeat inhibitor of TERT expression 1
    truncated microcephalin

    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.

    Genomic

    1. NG_016619.2 RefSeqGene

      Range
      5001..246914
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172574.1NP_001166045.1  microcephalin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as MCPH1deltae9-14) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC016065, AI379664, AK301702, BC030702, DC321458
      Consensus CDS
      CCDS55190.1
      UniProtKB/Swiss-Prot
      Q8NEM0
      Related
      ENSP00000430962, OTTHUMP00000224562, ENST00000519480, OTTHUMT00000374531
      Conserved Domains (2) summary
      pfam12258
      Location:227603
      Microcephalin; Microcephalin protein
      pfam12738
      Location:975
      PTCB-BRCT; twin BRCT domain
    2. NM_001172575.1NP_001166046.1  microcephalin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, and differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC016065, AI379664, AK301702, BC030702, DC321458
      Consensus CDS
      CCDS55191.1
      UniProtKB/Swiss-Prot
      Q8NEM0
      Related
      ENSP00000430768, OTTHUMP00000224501, ENST00000522905, OTTHUMT00000374667
      Conserved Domains (2) summary
      pfam12258
      Location:179555
      Microcephalin; Microcephalin protein
      pfam12738
      Location:975
      PTCB-BRCT; twin BRCT domain
    3. NM_001322042.1NP_001308971.1  microcephalin isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an additional exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      AC016065, AF287957, AI480294, AK022909, AW137476, BC030702, BX369769, DA552142, DC321458, HY014621
      UniProtKB/Swiss-Prot
      Q8NEM0
      Conserved Domains (3) summary
      cd00027
      Location:669714
      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:227603
      Microcephalin; Microcephalin protein
      pfam12738
      Location:975
      PTCB-BRCT; twin BRCT domain
    4. NM_001322043.1NP_001308972.1  microcephalin isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region, and lacks several 3' exons but contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (5) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC016065, AI652127, AK022909, BC030702, BX369769, DB218495, DC321458, HY014621
      UniProtKB/Swiss-Prot
      Q8NEM0
      Conserved Domains (2) summary
      pfam12258
      Location:225601
      Microcephalin; Microcephalin protein
      pfam12738
      Location:873
      PTCB-BRCT; twin BRCT domain
    5. NM_001322045.1NP_001308974.1  microcephalin isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, and it also lacks several 3' exons but contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (6) is shorter at the N-terminus and has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC016065, AI652127, AK022909, BC030702, BX369769, HY014621
      UniProtKB/Swiss-Prot
      Q8NEM0
      Conserved Domains (2) summary
      pfam12258
      Location:193569
      Microcephalin; Microcephalin protein
      pfam12738
      Location:141
      PTCB-BRCT; twin BRCT domain
    6. NM_024596.4NP_078872.2  microcephalin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as MCPH1-FL) encodes isoform 1.
      Source sequence(s)
      AC016065, AF287957, AI480294, AK022909, AW137476, BC030702, BX369769, DC321458, HY014621
      Consensus CDS
      CCDS43689.1
      UniProtKB/Swiss-Prot
      Q8NEM0
      Related
      ENSP00000342924, OTTHUMP00000224448, ENST00000344683, OTTHUMT00000374532
      Conserved Domains (2) summary
      cd00027
      Location:669714
      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:225608
      Microcephalin; Microcephalin protein

    RNA

    1. NR_136159.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an internal exon and several 3' exons, but contains an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC016065, AI652127, AK022909, BC030702, BX369769, DC321458, HY014621

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      6406592..6648505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013829.1XP_016869318.1  

    2. XM_011534755.2XP_011533057.1  

      Conserved Domains (2) summary
      cd00027
      Location:669714
      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:225608
      Microcephalin; Microcephalin protein
    3. XM_017013833.1XP_016869322.1  

    4. XM_017013834.1XP_016869323.1  

    5. XM_017013830.1XP_016869319.1  

    6. XM_017013831.1XP_016869320.1  

    7. XM_017013832.1XP_016869321.1  

    8. XM_011534757.2XP_011533059.1  

      Conserved Domains (2) summary
      cd00027
      Location:669714
      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:225608
      Microcephalin; Microcephalin protein
    9. XM_011534756.2XP_011533058.1  

      Conserved Domains (2) summary
      cd00027
      Location:669714
      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:225608
      Microcephalin; Microcephalin protein
    10. XM_011534759.2XP_011533061.1  

      Conserved Domains (2) summary
      cd00027
      Location:669714
      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:225608
      Microcephalin; Microcephalin protein
    11. XM_011534758.2XP_011533060.1  

      Conserved Domains (2) summary
      cd00027
      Location:669714
      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:225608
      Microcephalin; Microcephalin protein
    12. XM_011534760.2XP_011533062.1  

      Conserved Domains (2) summary
      cd00027
      Location:494539
      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:50433
      Microcephalin; Microcephalin protein

    RNA

    1. XR_001745596.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      6352911..6595171
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)