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Aliases for MCPH1 Gene

Aliases for MCPH1 Gene

  • Microcephalin 1 2 3
  • BRCT-Repeat Inhibitor Of TERT Expression 1 2 3
  • Microcephaly, Primary Autosomal Recessive 1 2
  • Microcephalin 3
  • BRIT1 3
  • MCT 3

External Ids for MCPH1 Gene

Summaries for MCPH1 Gene

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 microcephaly 1, primary, autosomal recessive and premature chromosome condensation with microcephaly and intellectual disability. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include identical protein binding.

UniProtKB/Swiss-Prot for MCPH1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCPH1 Gene

Genomics for MCPH1 Gene

Genomic Location for MCPH1 Gene

Start:
6,406,592 bp from pter
End:
6,643,623 bp from pter
Size:
237,032 bases
Orientation:
Plus strand

Genomic View for MCPH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MCPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCPH1 Gene

Regulatory Elements for MCPH1 Gene

Proteins for MCPH1 Gene

  • Protein details for MCPH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEM0-MCPH1_HUMAN
    Recommended name:
    Microcephalin
    Protein Accession:
    Q8NEM0
    Secondary Accessions:
    • B4DWW2
    • E9PGU5
    • E9PH63
    • Q66GU1
    • Q9H9C7

    Protein attributes for MCPH1 Gene

    Size:
    835 amino acids
    Molecular mass:
    92877 Da
    Quaternary structure:
    • 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

    Three dimensional structures from OCA and Proteopedia for MCPH1 Gene

    Alternative splice isoforms for MCPH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCPH1 Gene

Proteomics data for MCPH1 Gene at MOPED

Post-translational modifications for MCPH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MCPH1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MCPH1 Gene

Domains for MCPH1 Gene

Protein Domains for MCPH1 Gene

UniProtKB/Swiss-Prot:

MCPH1_HUMAN
Domain:
  • BRCT domain 1 is required to prevent abnormal chromosome condensation. It binds directly to the SWI-SNF chromatin remodeling complex (PubMed:19925808).:
    • Q8NEM0
  • 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):
    • Q8NEM0
  • Contains 3 BRCT domains.:
    • Q8NEM0
genes like me logo Genes that share domains with MCPH1: view

No data available for Gene Families for MCPH1 Gene

Function for MCPH1 Gene

Molecular function for MCPH1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for MCPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18660752
GO:0042802 identical protein binding IPI 18660752
genes like me logo Genes that share ontologies with MCPH1: view
genes like me logo Genes that share phenotypes with MCPH1: view

Animal Models for MCPH1 Gene

MGI Knock Outs for MCPH1:

miRNA for MCPH1 Gene

miRTarBase miRNAs that target MCPH1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MCPH1 Gene

Localization for MCPH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCPH1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MCPH1 Gene COMPARTMENTS Subcellular localization image for MCPH1 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for MCPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton --
genes like me logo Genes that share ontologies with MCPH1: view

Pathways for MCPH1 Gene

genes like me logo Genes that share pathways with MCPH1: view

Pathways by source for MCPH1 Gene

2 Cell Signaling Technology pathways for MCPH1 Gene

Gene Ontology (GO) - Biological Process for MCPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000132 establishment of mitotic spindle orientation --
GO:0000278 mitotic cell cycle TAS --
GO:0010468 regulation of gene expression --
GO:0021987 cerebral cortex development IEA --
GO:0043549 regulation of kinase activity --
genes like me logo Genes that share ontologies with MCPH1: view

Transcripts for MCPH1 Gene

Unigene Clusters for MCPH1 Gene

Microcephalin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MCPH1 Gene

No ASD Table

Relevant External Links for MCPH1 Gene

GeneLoc Exon Structure for
MCPH1
ECgene alternative splicing isoforms for
MCPH1

Expression for MCPH1 Gene

mRNA expression in normal human tissues for MCPH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MCPH1 Gene

SOURCE GeneReport for Unigene cluster for MCPH1 Gene Hs.656769

mRNA Expression by UniProt/SwissProt for MCPH1 Gene

Q8NEM0-MCPH1_HUMAN
Tissue specificity: Expressed in fetal brain, liver and kidney.
genes like me logo Genes that share expressions with MCPH1: view

Orthologs for MCPH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MCPH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCPH1 36
  • 98.96 (n)
  • 98.2 (a)
MCPH1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MCPH1 36
  • 67.91 (n)
  • 58.62 (a)
MCPH1 37
  • 57 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCPH1 36
  • 75.03 (n)
  • 63.85 (a)
MCPH1 37
  • 57 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mcph1 36
  • 71.45 (n)
  • 59.55 (a)
Mcph1 16
Mcph1 37
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 27 (a)
OneToMany
-- 37
  • 72 (a)
OneToMany
-- 37
  • 63 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 36 (a)
OneToMany
-- 37
  • 52 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mcph1 36
  • 71.6 (n)
  • 58.7 (a)
chicken
(Gallus gallus)
Aves MCPH1 36
  • 65.13 (n)
  • 59.3 (a)
MCPH1 37
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCPH1 37
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17324 36
zebrafish
(Danio rerio)
Actinopterygii Dr.15463 36
mcph1 37
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta MCPH1 37
  • 16 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10623 37
  • 23 (a)
OneToOne
Species with no ortholog for MCPH1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MCPH1 Gene

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

Paralogs for MCPH1 Gene

No data available for Paralogs for MCPH1 Gene

Variants for MCPH1 Gene

Sequence variations from dbSNP and Humsavar for MCPH1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs2583 -- 6,445,561(-) GAAAA(C/G)GAGAT utr-variant-3-prime, intron-variant
rs2584 Benign 6,445,504(-) GTAGA(C/T)GTCTC synonymous-codon, reference, intron-variant
rs894888 -- 6,421,387(-) AGTAT(C/T)ACAGG intron-variant
rs894895 -- 6,438,036(+) ATTTA(A/T)CATAT intron-variant
rs894896 -- 6,438,149(+) TCTTT(C/G)CTATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MCPH1 Gene

Variant ID Type Subtype PubMed ID
nsv890034 CNV Gain 21882294
nsv890041 CNV Gain 21882294
nsv527005 CNV Gain 19592680
nsv890055 CNV Gain 21882294
nsv524404 CNV Loss 19592680
esv2736530 CNV Deletion 23290073
esv2736531 CNV Deletion 23290073
dgv443n21 CNV Loss 19592680
esv2668625 CNV Deletion 23128226
dgv444n21 CNV Loss 19592680
nsv6057 CNV Insertion 18451855
nsv890056 CNV Loss 21882294
nsv890057 CNV Gain 21882294
nsv890058 CNV Gain 21882294
esv1010135 CNV Insertion 20482838
esv2422383 CNV Duplication 17116639
esv2736532 CNV Deletion 23290073
nsv397733 CNV Loss 16902084
nsv522043 CNV Loss 19592680
esv2736533 CNV Deletion 23290073
esv2736534 CNV Deletion 23290073
nsv6058 CNV Insertion 18451855
nsv526417 CNV Loss 19592680
nsv521585 CNV Loss 19592680
nsv890059 CNV Loss 21882294
nsv524670 CNV Loss 19592680

Relevant External Links for MCPH1 Gene

HapMap Linkage Disequilibrium report
MCPH1
Human Gene Mutation Database (HGMD)
MCPH1

Disorders for MCPH1 Gene

(1) OMIM Diseases for MCPH1 Gene (607117)

UniProtKB/Swiss-Prot

MCPH1_HUMAN
  • 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. {ECO:0000269 PubMed:12046007, ECO:0000269 PubMed:15199523, ECO:0000269 PubMed:16211557}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for MCPH1 Gene

(5) Novoseek inferred disease relationships for MCPH1 Gene

Disease -log(P) Hits PubMed IDs
microcephaly, primary 98.7 18
microcephaly 84.4 12
seckel syndrome 81.4 2
ataxia telangiectasia 57.1 2
mental retardation 57 3

Relevant External Links for MCPH1

GeneTests
MCPH1
GeneReviews
MCPH1
Genetic Association Database (GAD)
MCPH1
Human Genome Epidemiology (HuGE) Navigator
MCPH1
genes like me logo Genes that share disorders with MCPH1: view

Publications for MCPH1 Gene

  1. Mutations in microcephalin cause aberrant regulation of chromosome condensation. (PMID: 15199523) Trimborn M. … Jackson A.P. (Am. J. Hum. Genet. 2004) 3 4 23
  2. Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1. (PMID: 15220350) Xu X. … Stern D.F. (J. Biol. Chem. 2004) 3 4 23
  3. Microcephalin encodes a centrosomal protein. (PMID: 16479174) Zhong X. … Xu X. (Cell Cycle 2006) 3 4 23
  4. MCPH1 functions in an H2AX-dependent but MDC1-independent pathway in response to DNA damage. (PMID: 17925396) Wood J.L. … Chen J. (J. Biol. Chem. 2007) 2 3 23
  5. Sex-dependent association of common variants of microcephaly genes with brain structure. (PMID: 20080800) Rimol L.M. … Andreassen O.A. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 23 49

Products for MCPH1 Gene

Sources for MCPH1 Gene

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