MCPH1 (NM_001172574) - microcephalin 1
Microcephalin Isoform 2
Legend
Protein
Kinases
Sites
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Interactions
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PTM Interaction Network Visualisation
Protein 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].
- Strand
- +
- Chromosome
- 8
- Protein
- 610 residues
- All mutations
- 168
- PTM sites
- 30
- CDS
- 6,264,188 - 6,303,076
- Transcription
- 6,264,112 - 6,304,940
Usage summary
Network
PTM site
Kinases group
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Kinase, PTM site or protein
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External references
- Entrez
- gene: 79648
-
UniProt