MCPH1

GENE INFORMATION

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Gene name

MCPH1 (HGNC Symbol)

Synonyms

BRIT1, FLJ12847

Description

Microcephalin 1 (HGNC Symbol)

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]

Chromosome

8

Cytoband

p23.1

Chromosome location (bp)

6406592 - 6643623

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000147316 (version 78.38)

Entrez gene

79648

UniProt

Q8NEM0 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NEM0

Antibodypedia

MCPH1 antibodies
 

PROTEIN VIEW

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MCPH1-001
 
MCPH1-002
 
MCPH1-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MCPH1-001 ENSP00000342924
ENST00000344683
A0A075B6F8
Show all »
Show » Show » 835 92.8 No 0
MCPH1-002 ENSP00000430962
ENST00000519480
Q8NEM0
Show all »
Show » Show » 610 67.9 No 0
MCPH1-003 ENSP00000430768
ENST00000522905
Q8NEM0
Show all »
Show » Show » 562 62.3 No 0