Gene: MCPH1 (microcephalin 1)  Homo sapiens

Symbol: MCPH1
Name: microcephalin 1
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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BRCT-repeat inhibitor of TERT expression 1; BRIT1; FLJ12847; MCT; microcephalin; microcephaly, primary autosomal recessive 1; OTTHUMP00000224448; OTTHUMP00000224501; OTTHUMP00000224562
Orthologs: Mus musculus : Mcph1 (microcephaly, primary autosomal recessive 1)  MGI
Rattus norvegicus : Mcph1 (microcephalin 1)
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_186,470,222 - 6,707,145+NCBI
Human Genome Assembly HuRef86,046,225 - 6,282,052+NCBI
Human Genome Assembly GRCh3786,264,113 - 6,501,140+NCBI
Human Genome Assembly Build 3686,251,529 - 6,493,434+NCBI
Human Cytogenetic Map8p23.1 NCBI
Human Genome Assembly86,276,479 - 6,489,214 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
 
More on MCPH1
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 1349111
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2013-04-30
Status: ACTIVE