• Gene id: 79648

Gene Summary

• Gene Symbol: MCPH1   Gene   UCSC   Ensembl
• Aliases: BRIT1, MCT
• Gene name: microcephalin 1
• Alternate names: microcephalin, BRCT-repeat inhibitor of TERT expression 1, truncated microcephalin,
• Gene location: 8p23.1 (72573102: 72329515)     Exons: 17     NC_000023.11
• Gene summary(Entrez): 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 r
• OMIM: 607117

Protein Summary

• Protein general information: Q8NEM0  
  • Name: Microcephalin
  • Length: 835  
  • Mass: 92849
  • Tissue specificity: Expressed in fetal brain, liver and kidney. {ECO
• Sequence:

  MAAPILKDVVAYVEVWSSNGTENYSKTFTTQLVDMGAKVSKTFNKQVTHVIFKDGYQSTWDKAQKRGVKLVSVLW
  VEKCRTAGAHIDESLFPAANMNEHLSSLIKKKRKCMQPKDFNFKTPENDKRFQKKFEKMAKELQRQKTNLDDDVP
  ILLFESNGSLIYTPTIEINSRHHSAMEKRLQEMKEKRENLSPTSSQMIQQSHDNPSNSLCEAPLNISRDTLCSDE
  YFAGGLHSSFDDLCGNSGCGNQERKLEGSINDIKSDVCISSLVLKANNIHSSPSFTHLDKSSPQKFLSNLSKEEI
  NLQRNIAGKVVTPDQKQAAGMSQETFEEKYRLSPTLSSTKGHLLIHSRPRSSSVKRKRVSHGSHSPPKEKCKRKR
  STRRSIMPRLQLCRSEDRLQHVAGPALEALSCGESSYDDYFSPDNLKERYSENLPPESQLPSSPAQLSCRSLSKK
  ERTSIFEMSDFSCVGKKTRTVDITNFTAKTISSPRKTGNGEGRATSSCVTSAPEEALRCCRQAGKEDACPEGNGF
  SYTIEDPALPKGHDDDLTPLEGSLEEMKEAVGLKSTQNKGTTSKISNSSEGEAQSEHEPCFIVDCNMETSTEEKE
  NLPGGYSGSVKNRPTRHDVLDDSCDGFKDLIKPHEELKKSGRGKKPTRTLVMTSMPSEKQNVVIQVVDKLKGFSI
  APDVCETTTHVLSGKPLRTLNVLLGIARGCWVLSYDWVLWSLELGHWISEEPFELSHHFPAAPLCRSECHLSAGP
  YRGTLFADQPAMFVSPASSPPVAKLCELVHLCGGRVSQVPRQASIVIGPYSGKKKATVKYLSEKWVLDSITQHKV
  CAPENYLLSQ

• Structural information:
  • Protein Domains: (1..9-)
    (/note="BRCT-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033-)
    (640..73-)
    (/note="BRCT-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033-)
    (751..83-)
    (/note="BRCT-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033"-)
  • Interpro: IPR001357  IPR036420  IPR022047  IPR029504  
  • Prosite: PS50172
  • PDB: 2WT8 3KTF 3PA6 3SHT 3SHV 3SZM 3T1N 3U3Z
  • PDBsum: 2WT8 3KTF 3PA6 3SHT 3SHV 3SZM 3T1N 3U3Z
  • DIP: 39802
  • STRING: ENSP00000342924
• Other Databases: GeneCards:  MCPH1  Malacards:  MCPH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071850	mitotic cell cycle arrest	IDA	biological process
GO:0000278	mitotic cell cycle	IBA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0046605	regulation of centrosome cycle	IEA	biological process
GO:0043549	regulation of kinase activity	IEA	biological process
GO:0000132	establishment of mitotic spindle orientation	IEA	biological process
GO:0097150	neuronal stem cell population maintenance	IEA	biological process
GO:0071539	protein localization to centrosome	IEA	biological process
GO:0060623	regulation of chromosome condensation	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005815	microtubule organizing center	IEA	cellular component

Diseases

Associated diseases	References
Primary microcephaly	KEGG:H00269
Primary microcephaly	KEGG:H00269
oral squamous cell carcinoma	PMID:23472065
Primary autosomal recessive microcephaly 1	PMID:15199523
Primary autosomal recessive microcephaly	PMID:22775483
Microcephaly	PMID:12046007
Endometrial cancer	PMID:20638839
Breast cancer	PMID:23296058
renal carcinoma	PMID:25197360
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray