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MCPH1 Gene

protein-coding   GIFtS: 58
GCID: GC08P006276

Microcephalin 1

(Previous names: microcephaly, primary autosomal recessive 1)
  See MCPH1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Microcephalin 11 2
BRCT-Repeat Inhibitor Of TERT Expression 11 2
Microcephaly, Primary Autosomal Recessive 11
BRIT12
MCT2
microcephalin2

External Ids:    HGNC: 69541   Entrez Gene: 796482   Ensembl: ENSG000001473167   OMIM: 6071175   UniProtKB: Q8NEM03   

Export aliases for MCPH1 gene to outside databases

Previous GC identifers: GC08U990048 GC08P006046


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MCPH1 Gene:
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)

GeneCards Summary for MCPH1 Gene:
MCPH1 (microcephalin 1) is a protein-coding gene. Diseases associated with MCPH1 include primary autosomal recessive microcephaly type 1, and microcephaly. GO annotations related to this gene include identical protein binding.

UniProtKB/Swiss-Prot: MCPH1_HUMAN, Q8NEM0
Function: Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in
neurogenesis and regulation of the size of the cerebral cortex




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_023736.18  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MCPH1 gene promoter:
         GR   PPAR-gamma1   PPAR-gamma2   GR-alpha   Zic3   HNF-4alpha1   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMCPH1 promoter sequence
   Search Chromatin IP Primers for MCPH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MCPH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p23.1   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23.1

MCPH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCPH1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P006276:  view genomic region     (about GC identifiers)

Start:
6,264,113 bp from pter      End:
6,501,144 bp from pter
Size:
237,032 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MCPH1_HUMAN, Q8NEM0 (See protein sequence)
Recommended Name: Microcephalin  
Size: 835 amino acids; 92877 Da
Subunit: Interacts with CDC27 and maybe other components of the APC/C complex. Interacts with histone variant
H2AFX under DNA damage conditions
Miscellaneous: MCPH1 deficient cells exhibit a delay in post-mitotic chromosome decondensation
Selected PDB 3D structures from and Proteopedia for MCPH1 (see all 8):
2WT8 (3D)        3KTF (3D)        3PA6 (3D)        3SHT (3D)        3SHV (3D)        3SZM (3D)    
Secondary accessions: B4DWW2 E9PGU5 E9PH63 Q66GU1 Q9H9C7
Alternative splicing: 3 isoforms:  Q8NEM0-1   Q8NEM0-2   Q8NEM0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MCPH1: NX_Q8NEM0

Explore proteomics data for MCPH1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MCPH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001166045.1  NP_001166046.1  NP_078872.2  

    ENSEMBL proteins: 
     ENSP00000342924   ENSP00000430962   ENSP00000430768  
    Reactome Protein details: Q8NEM0

    MCPH1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MCPH1

     
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    antibodies-online proteins for MCPH1 (4 products) 

     
    antibodies-online peptides for MCPH1

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    antibodies-online antibodies for MCPH1 (49 products) 

    MCPH1 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR022047 Microcephalin
     IPR001357 BRCT_dom

    Graphical View of Domain Structure for InterPro Entry Q8NEM0

    ProtoNet protein and cluster: Q8NEM0

    1 Blocks protein domain: IPB001357 BRCT domain

    UniProtKB/Swiss-Prot: MCPH1_HUMAN, Q8NEM0
    Domain: BRCT domain 1 is required to prevent abnormal chromosome condensation. It binds directly to the SWI-SNF
    chromatin remodeling complex (PubMed:19925808)
    Domain: BRCT domains 2 and 3 recognize phosphoserine/phosphothreonine marks on proteins with high selectivity, and
    mediate interaction with phosphorylated CDC27. They also mediate the dual recognition of phosphoserine and
    phosphotyrosine in the C-terminal tail of histone H2AFX (PubMed:22139841, PubMed:22908299 and PubMed:22908299)
    Similarity: Contains 3 BRCT domains


    Find genes that share domains with MCPH1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MCPH1_HUMAN, Q8NEM0
    Function: Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in
    neurogenesis and regulation of the size of the cerebral cortex

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18660752
    GO:0042802identical protein binding IPI18660752
         
    Find genes that share ontologies with MCPH1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MCPH1:
     Synthetic lethal with Ras 

         15 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Mcph1):
     behavior/neurological  cardiovascular system  cellular  craniofacial  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  immune system  mortality/aging 
     nervous system  no phenotypic analysis  reproductive system  skeleton  vision/eye 

    Find genes that share phenotypes with MCPH1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MCPH1: Mcph1tm1.1Zqw Mcph1tm1.2Kali

       genOway: Develop your customized and physiologically relevant rodent model for MCPH1

    miRNA
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    miRTarBase miRNAs that target MCPH1:
    hsa-mir-335-5p (MIRT017612), hsa-mir-15b-5p (MIRT046507), hsa-mir-10a-5p (MIRT047634)

    Block miRNA regulation of human, mouse, rat MCPH1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate MCPH1:
    hsa-miR-146a* hsa-miR-942 hsa-miR-1236 hsa-miR-570
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MCPH1_HUMAN, Q8NEM0: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus3
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IEA--
    GO:0005815microtubule organizing center IEA--

    Find genes that share ontologies with MCPH1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MCPH1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    2RNA Polymerase I Promoter Opening
    Condensation of Prophase Chromosomes0.78
    Mitotic Prophase0.56
    3Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    DNA Damage0.32


    Find genes that share SuperPaths with MCPH1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for MCPH1
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 Reactome Pathway for MCPH1
        Condensation of Prophase Chromosomes


        Pathway & Disease-focused RT2 Profiler PCR Array including MCPH1: 
              DNA Damage Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MCPH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MCPH1 (Q8NEM01, 2, 3 ENSP000003429244) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    E2F1Q010941, 2, 3, ENSP000003455714EBI-1565483,EBI-448924 MINT-6804908 MINT-6804850 MINT-6804865 MINT-6804968 MINT-6804878 MINT-6804982 I2D: score=2 STRING: ENSP00000345571
    MCPH1Q8NEM01, 2EBI-1565483,EBI-1565483 MINT-6804932 MINT-6804949
    ENSG00000206481Q146763, ENSP000003730604I2D: score=1 STRING: ENSP00000373060
    ENSG00000224587Q146763I2D: score=1 
    ENSG00000225589Q146763I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000132establishment of mitotic spindle orientation ----
    GO:0000278mitotic cell cycle TAS--
    GO:0010468regulation of gene expression ----
    GO:0021987cerebral cortex development ----
    GO:0043549regulation of kinase activity ----

    Find genes that share ontologies with MCPH1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MCPH1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MCPH1 gene (3 alternative transcripts): 
    NM_001172574.1  NM_001172575.1  NM_024596.3  

    Unigene Cluster for MCPH1:

    Microcephalin 1
    Hs.656769  [show with all ESTs]
    Unigene Representative Sequence: NM_001172574
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344683(uc003wqi.3) ENST00000519480(uc003wqh.3 uc011kwl.2)
    ENST00000522905 ENST00000522020 ENST00000519221 ENST00000521129 ENST00000521175

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate MCPH1:
    hsa-miR-146a* hsa-miR-942 hsa-miR-1236 hsa-miR-570
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional mRNA sequence: 

    AK022909.1 AK057995.1 AK301702.1 AK308387.1 BC030702.1 BC056195.1 

    12 DOTS entries:

    DT.40290903  DT.451868  DT.101982162  DT.121490450  DT.121490428  DT.75101554  DT.121490422  DT.92005685 
    DT.100733204  DT.95343922  DT.75138141  DT.302800 

    Selected AceView cDNA sequences (see all 122):

    CR593857 AW292069 BX279580 AA683496 BQ067939 W38626 AA808319 BM785850 
    AA971737 AI379664 BX646594 CB146404 BC030702 CD512842 BM752490 BX114663 
    BX391534 BG772154 BX106592 NM_024596 N21605 AI740712 AW014476 AU128393 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MCPH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MCPH1 Expression
    About this image


    MCPH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Bone (Muscoskeletal System)
             Bone Marrow
    MCPH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MCPH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656769

    UniProtKB/Swiss-Prot: MCPH1_HUMAN, Q8NEM0
    Tissue specificity: Expressed in fetal brain, liver and kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including MCPH1: 
              DNA Damage Signaling Pathway in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCPH1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MCPH1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mcph11 , 5 microcephaly, primary autosomal recessive 11, 5 71.45(n)1
    59.55(a)1
      8 (10.24 cM)5
    2443291  NM_173189.21  NP_775281.21 
     185951315 
    chicken
    (Gallus gallus)
    Aves MCPH11 microcephalin 1 65.13(n)
    59.3(a)
      100125976  NM_001105319.1  NP_001098789.1 
    lizard
    (Anolis carolinensis)
    Reptilia MCPH16
    microcephalin 1
    58(a)
    1 ↔ 1
    1(152001391-152108196)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ096643.12   -- 75.4(n)    BJ096643.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.154632 Transcribed sequence with weak similarity to protein more 74.24(n)    AL718650.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta MCPH16
    Microcephalin
    16(a)
    1 ↔ 1
    2R(7783499-7791429)


    ENSEMBL Gene Tree for MCPH1 (if available)
    TreeFam Gene Tree for MCPH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MCPH1 (see all 8129)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0467454
    Microcephaly 1, primary, autosomal recessive (MCPH1)4--see VAR_0467452 T R mis40--------
    rs9305571,2,,4
    C,F,O,A,Hnon-pathogenic16508251(+) CCCCTC/GACCAA 6 H D mis1 ese330Minor allele frequency- G:0.26EA MN NA NS WA CSA EU 4707
    rs10570901,2,,4
    C,F,O,A,Hnon-pathogenic16685042(+) GCCAGC/TGATGT 2 A V mis1 ese335Minor allele frequency- N:0.00MN EA NA NS WA CSA EU 4739
    rs10570911,2,,4
    C,F,O,Hnon-pathogenic16706549(+) GTGCCC/TCTGAA 2 P S mis1 ese329Minor allele frequency- T:0.25MN NS EA NA CSA WA EU 4306
    rs1214343051,2
    Cpathogenic16472917(+) TTATTC/GAAAGA 6 S * stg10--------
    rs570039581,2
    C--6053351(+) CTTTT-/GTTTTT 3 -- int10--------
    rs358184091,2
    C--6096196(+) TTTTTTT/-AAGTG 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs1997113061,2
    C--6098025(+) AAAAA-/AGGAAAA 1 -- int10--------
    rs13159221,2
    C,H--6105671(+) ttttgT/Gatttt 1 -- int14Minor allele frequency- G:0.00NA WA 8
    rs1996522751,2
    --6130589(+) AAAAA-/TTTTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for MCPH1 (6264113 - 6501144 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MCPH1 (see all 26):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2736532CNV Deletion23290073
    esv2736534CNV Deletion23290073
    esv2736531CNV Deletion23290073
    esv2668625CNV Deletion23128226
    esv2736533CNV Deletion23290073
    esv2736530CNV Deletion23290073
    esv2422383CNV Duplication17116639
    nsv6058CNV Insertion18451855
    nsv6057CNV Insertion18451855
    esv1010135CNV Insertion20482838

    Human Gene Mutation Database (HGMD): MCPH1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MCPH1
    DNA2.0 Custom Variant and Variant Library Synthesis for MCPH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607117   
    OMIM disorders: 251200  
    UniProtKB/Swiss-Prot: MCPH1_HUMAN, Q8NEM0
  • Microcephaly 1, primary, autosomal recessive (MCPH1) [MIM:251200]: A disease defined as a head
    circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and
    the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is
    relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally
    retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant
    neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation,
    short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells
    detected in routine cytogenetic preparations and poor-quality metaphase G-banding. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 4 diseases for MCPH1:    
    About MalaCards
    primary autosomal recessive microcephaly type 1    microcephaly    microcephaly, primary autosomal recessive    primary autosomal recessive microcephalies and seckel syndrome spectrum disorders

    3 diseases from the University of Copenhagen DISEASES database for MCPH1:
    Microcephaly     Seckel syndrome     Intellectual disability

    Find genes that share disorders with MCPH1           About GenesLikeMe

    5 Novoseek inferred disease relationships for MCPH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microcephaly, primary 98.7 29 15199523 (2), 19549900 (1), 19267414 (1), 12571366 (1) (see all 17)
    microcephaly 84.4 21 19267414 (2), 16687438 (1), 15018946 (1), 15917198 (1) (see all 11)
    seckel syndrome 81.4 3 16217032 (1), 19546241 (1)
    ataxia telangiectasia 57.1 3 15018946 (1), 19546241 (1)
    mental retardation 57 6 19267414 (2), 17925396 (1)

    GeneTests: MCPH1
    GeneReviews: MCPH1
    Genetic Association Database (GAD): MCPH1
    Human Genome Epidemiology (HuGE) Navigator: MCPH1 (14 documents)

    Export disorders for MCPH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MCPH1 gene, integrated from 10 sources (see all 103):
    (articles sorted by number of sources associating them with MCPH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A common SNP of MCPH1 is associated with cranial volume variation in Chinese population. (PubMed id 18204051)1, 2, 4 Wang J.-K.... Su B. (Hum. Mol. Genet. 2008)
    2. MCPH1 functions in an H2AX-dependent but MDC1-independent pathway in response to DNA damage. (PubMed id 17925396)1, 3, 9 Wood J.L....Chen J. (J. Biol. Chem. 2007)
    3. Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1. (PubMed id 15220350)1, 2, 9 Xu X.... Stern D.F. (J. Biol. Chem. 2004)
    4. Mutations in microcephalin cause aberrant regulation of chromosome condensation. (PubMed id 15199523)1, 2, 9 Trimborn M....Jackson A.P. (Am. J. Hum. Genet. 2004)
    5. The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation. (PubMed id 19267414)1, 4, 9 Maghirang-Rodriguez R....Collins J.S. (Am. J. Med. Genet. A 2009)
    6. Microcephalin encodes a centrosomal protein. (PubMed id 16479174)1, 2, 9 Zhong X.... Xu X. (Cell Cycle 2006)
    7. Sex-dependent association of common variants of microcephaly genes with brain structure. (PubMed id 20080800)1, 4, 9 Rimol L.M....Andreassen O.A. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    8. Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response. (PubMed id 21993531)1, 4 Kuparinen T....Hurme M. (Genes Immun. 2012)
    9. Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1. (PubMed id 22908299)1, 2 Singh N....Mer G. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. Molecular basis for the association of microcephalin (MCPH1) protein with the cell division cycle protein 27 (Cdc27) subunit of the anaphase-promoting complex. (PubMed id 22139841)1, 2 Singh N.... Couch F.J. (J. Biol. Chem. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79648 HGNC: 6954 AceView: MCPH1 Ensembl:ENSG00000147316 euGenes: HUgn79648
    ECgene: MCPH1 H-InvDB: MCPH1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MCPH1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MCPH1 Genetics and Cytogenetics in Oncology and Haematology
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/064

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MCPH1 gene:
    Search GeneIP for patents involving MCPH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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