Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
BRIT1
MCPH microcephalin |
| gptkbp:associatedWith |
DNA damage response
primary microcephaly |
| gptkbp:encodes |
microcephalin protein
|
| gptkbp:Entrez_Gene_ID |
79848
ENSG00000143196 |
| gptkbp:expressedIn |
gptkb:testis
brain |
| gptkbp:fullName |
microcephalin 1
|
| gptkbp:function |
DNA repair
cell cycle checkpoint control regulation of chromosome condensation |
| gptkbp:HGNC_ID |
HGNC:13377
|
| https://www.w3.org/2000/01/rdf-schema#label |
MCPH1
|
| gptkbp:locatedOnChromosome |
8
8p23.1 |
| gptkbp:mutationAssociatedWith |
autosomal recessive primary microcephaly type 1
|
| gptkbp:OMIM |
607117
|
| gptkbp:orthologIn |
gptkb:mouse
gptkb:zebrafish |
| gptkbp:proteinFamily |
gptkb:BRCT_domain
MCPH1 domain |
| gptkbp:UniProtID |
Q8NEM0
|
| gptkbp:bfsParent |
gptkb:6q27_(human)
|
| gptkbp:bfsLayer |
7
|