Statements (28)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
EPC1
Polyhomeotic homolog 1 hPH1 |
gptkbp:associatedWith |
neurodevelopmental disorders
primary microcephaly |
gptkbp:encodes |
Polyhomeotic-like protein 1
|
gptkbp:Entrez_Gene_ID |
1911
|
gptkbp:expressedIn |
gptkb:nucleus
|
gptkbp:HGNC_ID |
8872
|
https://www.w3.org/2000/01/rdf-schema#label |
PHC1
|
gptkbp:interactsWith |
gptkb:PHC2
gptkb:PHC3 gptkb:RING1 gptkb:CBX_proteins BMI1 |
gptkbp:involvedIn |
transcriptional repression
chromatin remodeling |
gptkbp:locatedOnChromosome |
gptkb:chromosome_12
|
gptkbp:memberOf |
gptkb:Polycomb_group_(PcG)_proteins
|
gptkbp:mutationAssociatedWith |
primary microcephaly 11 (MCPH11)
|
gptkbp:OMIM |
602978
|
gptkbp:orthologIn |
Drosophila polyhomeotic gene
|
gptkbp:product |
PHC1 protein
|
gptkbp:UniProtID |
Q8IXK0
|
gptkbp:bfsParent |
gptkb:CBX2
gptkb:PHC_proteins |
gptkbp:bfsLayer |
8
|