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PHD finger protein 6; PHD-like zinc finger protein (PHF6, KIAA1823)
Function:
- may play a role in transcriptional regulation
- phosphorylated upon DNA damage, probably by ATM or ATR
Structure: contains 2 PHD-type Zn+2 fingers
Compartment:
- nucleus, nucleolus
- particularly localizes to the nucleolus
Alternative splicing: named isoforms=2
Expression: ubiquitously expressed
Pathology:
- defects in PHF6 are the cause of Boerjeson-Forssman syndrome
Related
Borjeson-Forssman-Lehmann syndrome
General
nuclear protein
PHD finger protein
phosphoprotein
Properties
SIZE: entity length = 365 aa
MW = 41 kD
COMPARTMENT: cell nucleus
MOTIF: nuclear translocation signal {13-16}
Zn finger PHD-type
NAME: Zn finger PHD-type
SITE: 79-131
EFFECTOR-BOUND: Zn+2
MOTIF: Ser phosphorylation site {S120}
nuclear translocation signal {129-133}
Ser phosphorylation site {S138}
Ser phosphorylation site {S145}
Ser phosphorylation site {S154}
Ser phosphorylation site {S155}
nucleolar localization signal {157-169}
Ser phosphorylation site {S199}
Ser phosphorylation site {S203}
Ser phosphorylation site {S204}
Zn finger PHD-type
NAME: Zn finger PHD-type
SITE: 277-329
EFFECTOR-BOUND: Zn+2
Thr phosphorylation site {T358}
Database Correlations
OMIM correlations
MORBIDMAP 300414
UniProt Q8IWS0
Entrez Gene 84295
Kegg hsa:84295
References
- UniProt :accession Q8IWS0
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/PHF6