FOXL1
entrez
2300
canonical
uniprot
Q12952
canonical
ensembl
ENSG00000176678
resolver
ensp
ENSP00000326272
resolver
ensp
ENSP00000624059
resolver
enst
ENST00000320241
resolver
enst
ENST00000954000
resolver
genesymbol
FOXL1
resolver
genesymbol_syn
FKHL11
resolver
genesymbol_syn
FREAC7
resolver
hgnc
HGNC:3817
resolver
uniprot
Q17RR1
resolver
uniprot
Q498Y4
resolver
uniprot
Q9H242
resolver
uniprot_entry
FOXL1_HUMAN
resolver
uniprot_entry
Q498Y4_HUMAN
resolver
uniprot_sec
Q17RR1
resolver
uniprot_sec
Q9H242
resolver
amino_acid_sequence
MSHLFDPRLPALAASPMLYLYGPERPGLPLAFAPAAALAASGRAETPQKPPYSYIALIAMAIQDAPEQRVTLNGIYQFIMDRFPFYHDNRQGWQNSIRHNLSLNDCFVKVPREKGRPGKGSYWTLDPRCLDMFENGNYRRRKRKPKPGPGAPEAKRPRAETHQRSAEAQPEAGSGAGGSGPAISRLQAAPAGPSPLLDGPSPPAPLHWPGTASPNEDAGDAAQGAAAVAVGQAARTGDGPGSPLRPASRSSPKSSDKSKSFSIDSILAGKQGQKPPSGDELLGGAKPGPGGRLGASLLAASSSLRPPFNASLMLDPHVQGGFYQLGIPFLSYFPLQVPDTVLHFQ
uniprot
proteins
disease_involvement
DISEASE: Otosclerosis 11 (OTSC11) [MIM:620576]: A form of otosclerosis, a pathological condition of the ear characterized by formation of spongy bone in the labyrinth capsule, especially in front of and posterior to the footplate of the stapes, resulting in conductive hearing impairment. Cochlear otosclerosis may also develop, resulting in sensorineural hearing loss. OTSC11 is an autosomal dominant form characterized by onset of progressive deafness in the second to third decade of life. Deafness ranges from moderate to severe, and may be conductive, sensorineural, or mixed. {ECO:0000269|PubMed:34633540}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Target gene of the hedgehog (Hh) signaling pathway via GLI2 and GLI3 transcription factors (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
36490
uniprot
proteins
pubmed
11078474
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
34633540
uniprot
proteins
pubmed
7957066
uniprot
proteins
sequence_length
345
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:34633540}.
uniprot
proteins