Version 5.4
Homo sapiens Gene: MCPH1
Summary
InnateDB Gene IDBG-5695.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MCPH1
Gene Name microcephalin 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000147316
Encoded Proteins
IDBP-5697
microcephalin 1
IDBP-484609
microcephalin 1
IDBP-481594
microcephalin 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:6406592-6643623
Strand Forward strand
Band p23.1
Transcripts
ENST00000344683 ENSP00000342924
ENST00000519480 ENSP00000430962
ENST00000522905 ENSP00000430768
ENST00000522020
ENST00000519221
ENST00000521129
ENST00000521175
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
Experimentally validated
Total 39 [view]
Protein-Protein 39 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0042802 identical protein binding
Biological Process
GO:0000132 establishment of mitotic spindle orientation
GO:0000278 mitotic cell cycle
GO:0010468 regulation of gene expression
GO:0021987 cerebral cortex development
GO:0043549 regulation of kinase activity
GO:0046605 regulation of centrosome cycle
GO:0050727 regulation of inflammatory response
GO:0060348 bone development
GO:0060623 regulation of chromosome condensation
GO:0071539 protein localization to centrosome
GO:0097150 neuronal stem cell maintenance
Cellular Component
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000039842
View Gene Order
ENSBTAG00000011032
Not yet available
Pathways
NETPATH
REACTOME
REACT_172744
Condensation of Prophase Chromosomes pathway
REACT_115566
Cell Cycle pathway
REACT_910
M Phase pathway
REACT_765
Mitotic Prophase pathway
REACT_152
Cell Cycle, Mitotic pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.656769
RefSeq NM_001172574 NM_001172575 NM_024596
HUGO
OMIM
CCDS CCDS43689 CCDS55190 CCDS55191
HPRD 06174
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca