AutismKB 2.0

Annotation Details for MCPH1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MCPH1 ( BRIT1,FLJ12847,MCT )
Gene Full Name: microcephalin 1
Band: 8p23.1
Quick LinksEntrez ID:79648; OMIM: 607117; Uniprot ID:MCPH1_HUMAN; ENSEMBL ID: ENSG00000147316; HGNC ID: 6954
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005654TAS-nucleoplasm-
GO:0005737IEA-cytoplasm-
GO:0005815IEA-microtubule organizing center-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding18660752
GO:0042802IPI-identical protein binding18660752
GO ID Evidence Qualifier GO_term References
GO:0021987IEA-cerebral cortex development-
GO:0071850IDA-mitotic cell cycle arrest24633962
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MCPH1ATM12277616872911 Co-localization
MCPH1ATM10696216872911 Co-localization
MCPH1ATR12277616872911 Co-localization
MCPH1ATR10702716872911 Co-localization
MCPH1BRCA212277619549900 20107607 Affinity Capture-Western; Co-localization
MCPH1BRCA210714219549900 20107607 Affinity Capture-Western; Co-localization
MCPH1CHEK112277616783362 Reconstituted Complex
MCPH1CHEK110753616783362 Reconstituted Complex
MCPH1E2F110820118660752 Affinity Capture-Western
MCPH1E2F112277618660752 Affinity Capture-Western
MCPH1MCM212277619525936 Reconstituted Complex
MCPH1MCM211033919525936 Reconstituted Complex
MCPH1NBN12277616872911 Co-localization
MCPH1NBN11076316872911 Co-localization
MCPH1RAD5112277619549900 20107607 Affinity Capture-Western; Co-localization
MCPH1RAD5111182519549900 20107607 Affinity Capture-Western; Co-localization
MCPH1RPA112277616872911 Co-localization
MCPH1RPA111203716872911 Co-localization
MCPH1SMARCA212277619525936 Affinity Capture-Western
MCPH1SMARCA211247919525936 Affinity Capture-Western
MCPH1SMARCA412277619525936 Affinity Capture-MS; Affinity Capture-Western
MCPH1SMARCA411248119525936 Affinity Capture-MS; Affinity Capture-Western
MCPH1SMARCB112277619525936 Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
MCPH1SMARCB111248219525936 Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
MCPH1SMARCC112277619525936 Affinity Capture-MS; Affinity Capture-Western
MCPH1SMARCC111248319525936 Affinity Capture-MS; Affinity Capture-Western
MCPH1SMARCC212277619525936 Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
MCPH1SMARCC211248519525936 Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
MCPH1TP53BP111301116872911 Co-localization
MCPH1TP53BP112277616872911 Co-localization
MCPH1MDC112277616872911 Co-localization
MCPH1MDC111501416872911 Co-localization
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2443308
  • Data Attributes: HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved