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forkhead box protein E1; forkhead-related protein 15; drosophila forkhead homolog-like 15; thyroid transcription factor 2; forkhead box protein E2; HNF-3/fork head-like protein 5 (FOXE1, HFKL5, HFKH4, FOXE2)
Function:
- transcription factor with role inthyroid gland organogenesis (putative)
- phosphorylated
Structure: contains 1 fork-head DNA-binding domain
Compartment: nucleus
Expression:
- detected in adult brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, heart, colon, small intestine, testis, thymus
- expression strongest in heart & pancreas
Pathology:
- defects in FOXE1 are the cause of Bamforth-Lazarus syndrome
Polymorphism:
- alanine stretch that varies from 12-17 residues is present can be used as a marker to study role of FOXE1 in cases of thyroid dysgenesis
General
forkhead family transcription factor
phosphoprotein
Properties
SIZE: MW = 38 kD
entity length = 376 aa
COMPARTMENT: cell nucleus
MOTIF: fork head domain
NAME: fork head domain
SITE: 53-147
alanine-rich region {164-314}
MOTIF: alanine residue (SEVERAL)
alanine-rich region {164-182}
MOTIF: alanine residue (SEVERAL)
proline-rich region
SITE: 185-246
MOTIF: proline residue (SEVERAL)
Database Correlations
OMIM 602617
UniProt O00358
Pfam PF00250
Entrez Gene 2304
References
- Entrez Gene :accession 2304
- UniProt :accession O00358
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXE1