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Nance-Horan syndrome protein (congenital cataracts & dental anomalies protein, NHS)
Function:
1) unknown
2) role in regulation of eye, tooth, brain & craniofacial development
Compartment: nucleus
Alternative splicing: named isoforms=3
Expression:
- detected at low levels in all tissues
Pathology:
- defects in NHS are the cause of Nance-Horan syndrome
General
phosphoprotein
Properties
SIZE: MW = 177 kD
entity length = 1630 aa
COMPARTMENT: cell nucleus
MOTIF: proline-rich region
SITE: 68-77
MOTIF: proline residue (SEVERAL)
alanine-rich region {112-117}
MOTIF: alanine residue (SEVERAL)
nuclear translocation signal {371-379}
serine-rich region {1454-1462}
MOTIF: serine residue (SEVERAL)
Ser phosphorylation site {S1478}
Database Correlations
OMIM correlations
UniProt Q6T4R5
References
UniProt :accession Q6T4R5