MCPH1

GENERAL INFORMATION

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Gene name

MCPH1

Gene description

Microcephalin 1

Protein class

Cytoskeleton related proteins
Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Mainly nuclear expression in most cell types.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA008238 , CAB012177
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000344683
 
ENST00000519480
 
ENST00000522905
 
 
 
 


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