FOXL1_HUMAN
ID FOXL1_HUMAN Reviewed; 345 AA.
AC Q12952; Q17RR1; Q9H242;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 27-APR-2001, sequence version 2.
DT 03-AUG-2022, entry version 173.
DE RecName: Full=Forkhead box protein L1;
DE AltName: Full=Forkhead-related protein FKHL11;
DE AltName: Full=Forkhead-related transcription factor 7;
DE Short=FREAC-7;
GN Name=FOXL1; Synonyms=FKHL11, FREAC7;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=11078474; DOI=10.1086/316915;
RA Fang J., Dagenais S.L., Erickson R.P., Arlt M.F., Glynn M.W., Gorski J.L.,
RA Seaver L.H., Glover T.W.;
RT "Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are
RT responsible for the hereditary lymphedema-distichiasis syndrome.";
RL Am. J. Hum. Genet. 67:1382-1388(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 44-149.
RX PubMed=7957066; DOI=10.1002/j.1460-2075.1994.tb06827.x;
RA Pierrou S., Hellqvist M., Samuelsson L., Enerbaeck S., Carlsson P.;
RT "Cloning and characterization of seven human forkhead proteins: binding
RT site specificity and DNA bending.";
RL EMBO J. 13:5002-5012(1994).
CC -!- FUNCTION: Transcription factor required for proper proliferation and
CC differentiation in the gastrointestinal epithelium. Target gene of the
CC hedgehog (Hh) signaling pathway via GLI2 AND GLI3 transcription factors
CC (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus.
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DR EMBL; AF315075; AAG40312.1; -; Genomic_DNA.
DR EMBL; AC009108; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC117226; AAI17227.1; -; mRNA.
DR EMBL; U13225; AAA92042.1; -; Genomic_DNA.
DR CCDS; CCDS10959.1; -.
DR PIR; S51630; S51630.
DR RefSeq; NP_005241.1; NM_005250.2.
DR AlphaFoldDB; Q12952; -.
DR SMR; Q12952; -.
DR BioGRID; 108589; 194.
DR IntAct; Q12952; 185.
DR MINT; Q12952; -.
DR STRING; 9606.ENSP00000326272; -.
DR iPTMnet; Q12952; -.
DR PhosphoSitePlus; Q12952; -.
DR BioMuta; FOXL1; -.
DR DMDM; 13638268; -.
DR jPOST; Q12952; -.
DR MassIVE; Q12952; -.
DR PaxDb; Q12952; -.
DR PeptideAtlas; Q12952; -.
DR PRIDE; Q12952; -.
DR Antibodypedia; 17198; 476 antibodies from 28 providers.
DR DNASU; 2300; -.
DR Ensembl; ENST00000320241.5; ENSP00000326272.3; ENSG00000176678.6.
DR GeneID; 2300; -.
DR KEGG; hsa:2300; -.
DR MANE-Select; ENST00000320241.5; ENSP00000326272.3; NM_005250.3; NP_005241.1.
DR UCSC; uc002fjr.4; human.
DR CTD; 2300; -.
DR DisGeNET; 2300; -.
DR GeneCards; FOXL1; -.
DR HGNC; HGNC:3817; FOXL1.
DR HPA; ENSG00000176678; Tissue enhanced (gallbladder).
DR MIM; 603252; gene.
DR neXtProt; NX_Q12952; -.
DR OpenTargets; ENSG00000176678; -.
DR PharmGKB; PA28234; -.
DR VEuPathDB; HostDB:ENSG00000176678; -.
DR eggNOG; KOG2294; Eukaryota.
DR GeneTree; ENSGT00940000162251; -.
DR HOGENOM; CLU_052451_0_0_1; -.
DR InParanoid; Q12952; -.
DR OMA; PLHWPGT; -.
DR OrthoDB; 1270467at2759; -.
DR PhylomeDB; Q12952; -.
DR TreeFam; TF316127; -.
DR PathwayCommons; Q12952; -.
DR SignaLink; Q12952; -.
DR BioGRID-ORCS; 2300; 11 hits in 1093 CRISPR screens.
DR GenomeRNAi; 2300; -.
DR Pharos; Q12952; Tbio.
DR PRO; PR:Q12952; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q12952; protein.
DR Bgee; ENSG00000176678; Expressed in tibial artery and 104 other tissues.
DR ExpressionAtlas; Q12952; baseline and differential.
DR Genevisible; Q12952; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IC:UniProtKB.
DR GO; GO:0003677; F:DNA binding; IDA:MGI.
DR GO; GO:0008301; F:DNA binding, bending; NAS:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; ISS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:UniProtKB.
DR GO; GO:0009653; P:anatomical structure morphogenesis; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0007507; P:heart development; IMP:DFLAT.
DR GO; GO:0061146; P:Peyer's patch morphogenesis; IEA:Ensembl.
DR GO; GO:0030166; P:proteoglycan biosynthetic process; ISS:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0030111; P:regulation of Wnt signaling pathway; ISS:UniProtKB.
DR GO; GO:0007495; P:visceral mesoderm-endoderm interaction involved in midgut development; ISS:UniProtKB.
DR CDD; cd00059; FH; 1.
DR Gene3D; 1.10.10.10; -; 1.
DR InterPro; IPR001766; Fork_head_dom.
DR InterPro; IPR018122; TF_fork_head_CS_1.
DR InterPro; IPR030456; TF_fork_head_CS_2.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR InterPro; IPR036390; WH_DNA-bd_sf.
DR Pfam; PF00250; Forkhead; 1.
DR PRINTS; PR00053; FORKHEAD.
DR SMART; SM00339; FH; 1.
DR SUPFAM; SSF46785; SSF46785; 1.
DR PROSITE; PS00657; FORK_HEAD_1; 1.
DR PROSITE; PS00658; FORK_HEAD_2; 1.
DR PROSITE; PS50039; FORK_HEAD_3; 1.
PE 2: Evidence at transcript level;
KW DNA-binding; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..345
FT /note="Forkhead box protein L1"
FT /id="PRO_0000091859"
FT DNA_BIND 48..139
FT /note="Fork-head"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00089"
FT REGION 136..289
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 147..165
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 195..209
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 247..267
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 345 AA; 36490 MW; 015D86B57DF3BBC6 CRC64;
MSHLFDPRLP ALAASPMLYL YGPERPGLPL AFAPAAALAA SGRAETPQKP PYSYIALIAM
AIQDAPEQRV TLNGIYQFIM DRFPFYHDNR QGWQNSIRHN LSLNDCFVKV PREKGRPGKG
SYWTLDPRCL DMFENGNYRR RKRKPKPGPG APEAKRPRAE THQRSAEAQP EAGSGAGGSG
PAISRLQAAP AGPSPLLDGP SPPAPLHWPG TASPNEDAGD AAQGAAAVAV GQAARTGDGP
GSPLRPASRS SPKSSDKSKS FSIDSILAGK QGQKPPSGDE LLGGAKPGPG GRLGASLLAA
SSSLRPPFNA SLMLDPHVQG GFYQLGIPFL SYFPLQVPDT VLHFQ
