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MCPH1

GENERAL INFORMATION

Gene name

 MCPH1

Gene description

 Microcephalin 1

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Mainly nuclear expression in most tissues.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA008238 , CAB012177
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PROGNOSTIC SUMMARY
Prognostic marker in colorectal cancer (favourable).
Colorectal cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Glioma

STAINING SUMMARY
HPA008238
CAB012177

GENE INFORMATION

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 - 6648504

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000147316 (version 83.38)

Entrez gene

 79648

UniProt

 Q8NEM0 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8NEM0

Antibodypedia

 MCPH1 antibodies

PROTEIN BROWSER
MCPH1-001
MCPH1-002
MCPH1-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MCPH1-001
ENSP00000342924
ENST00000344683
A0A075B6F8 [Direct mapping]
Microcephalin
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   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0000132 [establishment of mitotic spindle orientation]
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 population maintenance]
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 835 aa
92.8 kDa 		No 0
MCPH1-002
ENSP00000430962
ENST00000519480
Q8NEM0 [Direct mapping]
Microcephalin
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Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
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GO:0000278 [mitotic cell cycle]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005815 [microtubule organizing center]
GO:0021987 [cerebral cortex development]
GO:0042802 [identical protein binding]
GO:0071850 [mitotic cell cycle arrest]
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 610 aa
67.9 kDa 		No 0
MCPH1-003
ENSP00000430768
ENST00000522905
Q8NEM0 [Direct mapping]
Microcephalin
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Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
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GO:0000278 [mitotic cell cycle]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005815 [microtubule organizing center]
GO:0021987 [cerebral cortex development]
GO:0042802 [identical protein binding]
GO:0071850 [mitotic cell cycle arrest]
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 562 aa
62.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.