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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MCPH1 Gene

protein-coding   GIFtS: 55
GCID: GC08P006276

Microcephalin 1

(Previous names: microcephaly, primary autosomal recessive 1)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 premature chromosome condensation with microcephaly and mental retardation, and among its related super-pathways are Cell Cycle / Checkpoint Control.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_023736.17  NC_018919.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MCPH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
Miscellaneous: MCPH1 deficient cells exhibit a delay in post-mitotic chromosome decondensation
6/8 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NEM0

  • MCPH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MCPH1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001166045.1  NP_001166046.1  NP_078872.2  

    ENSEMBL proteins: 
     ENSP00000342924   ENSP00000430962   ENSP00000430768  

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

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    MCPH1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    MCPH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18660752
    GO:0042802identical protein binding IPI18660752
         
    MCPH1 for ontologies           About GeneDecksing


    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  hearing/vestibular/ear  hematopoietic system  immune system  mortality/aging 
     nervous system  no phenotypic analysis  reproductive system  skeleton  vision/eye 

    MCPH1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MCPH1 
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MCPH1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCPH1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MCPH1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1DNA Damage
    DNA Damage0.32
    Cell Cycle / Checkpoint Control0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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



    MCPH1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MCPH1

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

    5/34 Interacting proteins for MCPH1 (Q8NEM02, 3 ENSP000003429244) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    E2F1Q010942, 3, ENSP000003455714MINT-6804908 MINT-6804850 MINT-6804865 MINT-6804968 MINT-6804878 MINT-6804982 I2D: score=2 STRING: ENSP00000345571
    ENSG00000206481Q146763, ENSP000003730604I2D: score=1 STRING: ENSP00000373060
    ENSG00000224587Q146763I2D: score=1 
    ENSG00000225589Q146763I2D: score=1 
    ENSG00000228575Q146763I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000132establishment of mitotic spindle orientation ----
    GO:0010468regulation of gene expression ----
    GO:0021987cerebral cortex development ----
    GO:0043549regulation of kinase activity ----
    GO:0046605regulation of centrosome cycle ----

    MCPH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MCPH1

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MCPH1 gene (3 alternative transcripts): 
    NM_001172574.1  NM_001172575.1  NM_024596.3  

    Unigene Clusters for MCPH1:

    Microcephalin 1
    Hs.656769  [show with all ESTs], Hs.708770  [show with all ESTs]
    Unigene Representative Sequences: NM_001172574, AK023946
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344683(uc003wqi.3) ENST00000519480(uc003wqh.3 uc011kwl.2)
    ENST00000522905 ENST00000522020 ENST00000519221 ENST00000521129 ENST00000521175

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-146a* hsa-miR-942 hsa-miR-1236 hsa-miR-570
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    Inhib. RNA
    Products:
         
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    GenScript: all cDNA clones in your preferred vector (see all 3): MCPH1 (NM_024596)
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    Additional mRNA sequence: AK023946.1 

    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 

    24/122 AceView cDNA sequences (see all 122):

    AA808319 W38626 AA971737 AI379664 CR593857 BM785850 BQ067939 AW292069 
    BX279580 AA683496 AW014476 BX369769 BM752490 BX106592 BC030702 BM551704 
    BU171121 CA313250 AA315143 H06879 BM970547 BM976976 BG717471 AL710738 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See MCPH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MCPH1

    SOURCE GeneReport for Unigene clusters: Hs.656769 Hs.708770

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

        SABiosciences Expression via Pathway-Focused PCR Array including MCPH1: 
              DNA Damage Signaling Pathway in human mouse rat

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MCPH1 gene from 6/14 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 71.57(n)1
    59.92(a)1
      8 (10.24 cM)5
    2443291  NM_173189.21  NP_775281.21 
     185951315 
    chicken
    (Gallus gallus)
    Aves MCPH11 microcephaly, primary autosomal recessive 1 57.75(n)
    52.08(a)
      100125976  NM_001105319.1  NP_001098789.1 
    lizard
    (Anolis carolinensis)
    Reptilia MCPH16
    Uncharacterized protein
    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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/8129 SNPs in MCPH1 are shown (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, primary, 1 (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) 10/26 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
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607117   
    OMIM disorders: 251200  606858  
    UniProtKB/Swiss-Prot: MCPH1_HUMAN, Q8NEM0
  • Microcephaly, primary, 1 (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

  • 20/22 diseases for MCPH1 (see all 22):    About MalaCards
    primary autosomal recessive microcephaly type 1    premature chromosome condensation with microcephaly and mental retardation    primary autosomal recessive microcephaly    microcephaly
    seckel syndrome    hereditary pancreatitis    craniosynostosis    ataxia telangiectasia
    multiple system atrophy    autism spectrum disorder    ataxia    mental retardation
    intellectual disability    chronic myeloid leukemia    malignant glioma    pancreatitis
    atherosclerosis    myeloid leukemia    pancreatic cancer    cerebritis

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

    MCPH1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for MCPH1 gene, integrated from 9 sources (see all 100):
    (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. (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. (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. (2004)
    4. Mutations in microcephalin cause aberrant regulation of chromosome condensation. (PubMed id 15199523)1, 2, 9 Trimborn M....Jackson A.P. (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. (2009)
    6. Microcephalin encodes a centrosomal protein. (PubMed id 16479174)1, 2, 9 Zhong X.... Xu X. (2006)
    7. Sex-dependent association of common variants of micro cephaly genes with brain structure. (PubMed id 20080800)1, 4, 9 Rimol L.M....Andreassen O.A. (2010)
    8. Genome-wide association study does not reveal major ge netic determinants for anti-cytomegalovirus antibody response. (PubMed id 21993531)1, 4 Kuparinen T....Hurme M. (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. (2012)
    10. Molecular basis for the association of microcephalin ( MCPH1) protein with the cell division cycle protein 27 (Cdc27) subunit of the an aphase-promoting complex. (PubMed id 22139841)1, 2 Singh N....Couch F.J. (2012)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sptlt064.shtml

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

    GeneCards and IP:
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