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pituitary homeobox 1; hindlimb-expressed homeobox protein backfoot; homeobox protein PITX1; paired-like homeodomain transcription factor 1 (PITX1, BFT, PTX1)
Function:
- may play a role in the development of anterior structures, & in particular, the brain & facies & in specifying the identity or structure of hindlimb
Structure:
- belongs to the paired homeobox family, Bicoid subfamily
- contains 1 homeobox DNA-binding domain
Compartment: nucleus
Pathology:
- defects in PITX1 are a cause of congenital clubfoot
General
homeobox protein
Properties
SIZE: entity length = 314 aa
MW = 34 kD
COMPARTMENT: cell nucleus
MOTIF: proline-rich region
SITE: 19-24
MOTIF: proline residue (SEVERAL)
Ser phosphorylation site {S46}
Ser phosphorylation site {S48}
Ser phosphorylation site {S50}
Ser phosphorylation site {S51}
Thr phosphorylation site {T53}
homeodomain
SITE: 89-148
PIT-1 interaction {147-279}
OAR domain
SITE: 280-293
MOTIF: nuclear translocation signal {286-290}
Database Correlations
OMIM correlations
MORBIDMAP 602149
UniProt P78337
PFAM correlations
Entrez Gene 5307
Kegg hsa:5307
References
UniProt :accession Q15475