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

MCPH1 Gene

protein-coding   GIFtS: 53
GCID: GC08P006276

microcephalin 1

(Previous names: microcephaly, primary autosomal recessive 1 )
 Explore 21 diseases affiliated with
MCPH1 via our new
 Human Malady Compendium 
Biological research products
for MCPH1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Microcephalin 11 2     MCT2
BRIT11 2     BRCT-Repeat Inhibitor Of TERT Expression 12
FLJ128471     Microcephalin1
Microcephaly, Primary Autosomal Recessive 11     

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:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_023736.17  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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, 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 E9PH63 Q66GU1 Q9H9C7
Alternative splicing: 2 isoforms:  Q8NEM0-1   Q8NEM0-2   (No experimental confirmation available)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NEM0

  • MCPH1 Protein expression data from MOPED and PaxDb:    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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    Novus Biologicals MCPH1 Proteins
    Novus Biologicals MCPH1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for MCPH1


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

    MCPH1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR022047 Microcephalin
     IPR001357 BRCT_dom

    Graphical View of Domain Structure for InterPro Entry Q8NEM0

    ProtoNet protein and cluster: Q8NEM0

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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

    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:
         Mouse knock-outs for MCPH1: Mcph1tm1.1Zqw Mcph1tm1.2Kali
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MCPH1 

    miRNA
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    In Situ Assay
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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, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control1.00
    2DNA Damage
    DNA Damage1.00

    Pathway sources
    See GeneCards unified pathways
    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)

    5/28 Interacting proteins for MCPH1 (Q8NEM02, 3 ENSP000003429244) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    E2F1Q010942, 3, ENSP000003455714MINT-6804908 MINT-6804850 MINT-6804865 MINT-6804968 MINT-6804878 MINT-6804982 I2D: score=2 STRING: ENSP00000345571
    E2F2Q142092, 3, ENSP000003552494MINT-6804894 I2D: score=1 STRING: ENSP00000355249
    BRCA2P515873, ENSP000003694974I2D: score=1 STRING: ENSP00000369497
    RAD51Q066093, ENSP000002678684I2D: score=1 STRING: ENSP00000267868
    SMARCA2P515313, ENSP000002657734I2D: score=1 STRING: ENSP00000265773
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010468regulation of gene expression IEA--
    GO:0043549regulation of kinase activity IEA--

    MCPH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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], Hs.721952  [show with all ESTs]
    Unigene Representative Sequences: NM_001172574, AK023946, AK057995
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344683(uc003wqi.3) ENST00000519480(uc003wqh.3 uc011kwl.2)
    ENST00000522905 ENST00000522020 ENST00000519221 ENST00000521129 ENST00000521175


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    hsa-miR-146a* hsa-miR-942 hsa-miR-1236 hsa-miR-570
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    Inhib. RNA
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    OriGene shRNA RFP: MCPH1
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    Additional cDNA sequence: AK057995.1 

    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):

    AA971737 AA683496 AW292069 AA808319 BM785850 W38626 AI379664 BX279580 
    CR593857 BQ067939 AA315143 BU171121 AW874272 AI393682 BX114663 BX106592 
    AW161535 BE672357 BM543033 BX375871 CA418259 AI274636 BM551704 BV206198 

    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
    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 Hs.721952

    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 6/17 species (see all 17)    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
    --
    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
    15(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, UniProtKB, 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

    10/5211 NCBI SNPs in MCPH1 are shown (see all 5211    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs9305571,2
    C,F,O,A,Hnon-pathogenic6302183(+) CCCCTC/GACCAA 6 H D mis1 ese330Minor allele frequency- G:0.26EA MN NA NS WA CSA EU 4707
    rs10570911,2
    C,F,O,Hnon-pathogenic7395962(+) GTGCCC/TCTGAA 2 P S mis1 ese329Minor allele frequency- T:0.25MN NS EA NA CSA WA EU 4306
    rs10570901,2
    C,F,O,A,Hnon-pathogenic7417460(+) GCCAGC/TGATGT 2 A V mis1 ese335Minor allele frequency- N:0.00MN EA NA NS WA CSA EU 4739
    rs1214343051,2
    Cpathogenic7628497(+) TTATTC/GAAAGA 6 S * stg10--------
    rs588482511,2
    --6044286(+) CAGCAC/GTATTT 3 -- us2k10--------
    rs731967421,2
    C--6044503(+) AAACAC/TATACA 3 -- us2k10--------
    rs7254371,2
    F--6044883(+) TAAACT/GTTTTT 3 -- us2k12Minor allele frequency- G:0.02MN WA 302
    rs29166571,2
    C,F,H--6045036(-) AAATAT/CGGTGT 3 -- us2k16Minor allele frequency- C:0.01NS EA CSA WA 524
    rs1129673841,2
    --6045060(+) TATTAC/GAACAA 3 -- us2k11Minor allele frequency- G:0.00CSA 1
    rs774780241,2
    C,F--6045071(+) TAACTG/TGTGAT 3 -- us2k11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for MCPH1 (6264113 - 6501144 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for MCPH1
         3 CNVs: 5250 39519 52596
    Human Gene Mutation Database (HGMD): MCPH1

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    MCPH1 for disorders           About GeneDecksing

    OMIM gene information: 607117   
    OMIM disorders: 251200  606858  
    UniProtKB/Swiss-Prot: MCPH1_HUMAN, Q8NEM0
  • Defects in MCPH1 are the cause of microcephaly primary type 1 (MCPH1) [MIM:251200]; also known as true
  • microcephaly or microcephaly vera. Microcephaly is 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. Primary microcephaly is further defined by the absence of other syndromic features or
    significant neurological deficits. This entity is inherited as autosomal recessive trait

    20/21 diseases for MCPH1 (see all 21):    About MalaCards
    microcephaly    primary autosomal recessive microcephaly    premature chromosome condensation with microcephaly and mental retardation    seckel syndrome
    autism spectrum disorder    ataxia telangiectasia    multiple system atrophy    intellectual disability
    chronic myeloid leukemia    myeloid leukemia    malignant glioma    craniosynostosis
    hereditary pancreatitis    ataxia    pancreatitis    pancreatic cancer
    leukemia    breast cancer    atherosclerosis    cerebritis

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

    5 Novoseek 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
    Primary Autosomal Recessive Microcephaly

    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 93):
    (articles sorted by number of sources associating them with MCPH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. Mutations in microcephalin cause aberrant regulation of chromosome condensation. (PubMed id 15199523)1, 2, 9 Trimborn M....Jackson A.P. (2004)
    4. Microcephalin encodes a centrosomal protein. (PubMed id 16479174)1, 2, 9 Zhong X.... Xu X. (2006)
    5. 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)
    6. 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)
    7. Specific recognition of phosphorylated tail of H2AX by the tandem BRCT domains of MCPH1 revealed by complex structure. (PubMed id 22154951)1, 2 Shao Z....Shi Y. (2012)
    8. A pocket on the surface of the N-terminal BRCT domain of Mcph1 is required to prevent abnormal chromosome condensation. (PubMed id 19925808)1, 2 Richards M.W....Bayliss R. (2010)
    9. A common SNP of MCPH1 is associated with cranial volume variation in Chinese population. (PubMed id 18204051)1, 2 Wang J.K....Su B. (2008)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (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
    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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