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forkhead box protein C1; forkhead-related transcription factor 3; FREAC-3; drosophila forkhead homolog-like 7 (FOXC1, FREAC3)
Function:
- binding to cognate site(s) results in bending of the DNA at an angle of 80-90 degrees
Structure: contains 1 fork-head DNA-binding domain
Expression:
- expressed in all tissues & cell lines examined
Pathology:
- defects in FOXC1 are a cause of Axenfeld-Rieger syndrome
- defects in FOXC1 are the cause of iridogoniodysgenesis anomaly
- defects in FOXC1 are a cause of Peters anomaly
General
forkhead family transcription factor
Properties
SIZE: MW = 57 kD
entity length = 553 aa
COMPARTMENT: cell nucleus
MOTIF: alanine-rich region {28-33}
MOTIF: alanine residue (SEVERAL)
fork head domain
NAME: fork head domain
SITE: 77-168
arginine-rich region {169-173}
MOTIF: arginine residue (SEVERAL)
proline-rich region
SITE: 194-197
MOTIF: proline residue (SEVERAL)
serine-rich region {262-272}
MOTIF: serine residue (SEVERAL)
proline-rich region
SITE: 292-297
MOTIF: proline residue (SEVERAL)
glycine-rich region {375-382}
serine-rich region {438-445}
MOTIF: serine residue (SEVERAL)
glycine-rich region {447-456}
alanine-rich region {486-495}
MOTIF: alanine residue (SEVERAL)
Database Correlations
OMIM 601090
MORBIDMAP 601090
UniProt Q12948
Entrez Gene 2296
References
- Entrez Gene :accession 2296
- UniProt :accession Q6PJQ5
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXC1