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MCPH1 (NM_001172574) - microcephalin 1

Microcephalin Isoform 2

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of MCPH1 protein. View all 3 isoforms
MCPH1: microcephalin isoform 2
Description:

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
79.18% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 79648
UniProt