FOXF1_HUMAN
ID FOXF1_HUMAN Reviewed; 379 AA.
AC Q12946; B2RAF4; Q5FWE5;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 26-MAY-2009, sequence version 2.
DT 03-AUG-2022, entry version 181.
DE RecName: Full=Forkhead box protein F1;
DE AltName: Full=Forkhead-related activator 1;
DE Short=FREAC-1;
DE AltName: Full=Forkhead-related protein FKHL5;
DE AltName: Full=Forkhead-related transcription factor 1;
GN Name=FOXF1; Synonyms=FKHL5, FREAC1;
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 [MRNA], AND PROBABLE FUNCTION.
RC TISSUE=Lung;
RX PubMed=8626802; DOI=10.1074/jbc.271.8.4482;
RA Hellqvist M., Mahlapuu M., Samuelsson L., Enerbaeck S., Carlsson P.;
RT "Differential activation of lung-specific genes by two forkhead proteins,
RT FREAC-1 and FREAC-2.";
RL J. Biol. Chem. 271:4482-4490(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=9769171; DOI=10.1006/dbio.1998.9010;
RA Mahlapuu M., Pelto-Huikko M., Aitola M., Enerbaeck S., Carlsson P.;
RT "FREAC-1 contains a cell-type-specific transcriptional activation domain
RT and is expressed in epithelial-mesenchymal interfaces.";
RL Dev. Biol. 202:183-195(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Chondrosarcoma;
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 [6]
RP PARTIAL NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND DEVELOPMENTAL
RP STAGE.
RC TISSUE=Fetus;
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).
RN [7]
RP INVOLVEMENT IN ACDMPV.
RX PubMed=19500772; DOI=10.1016/j.ajhg.2009.05.005;
RA Stankiewicz P., Sen P., Bhatt S.S., Storer M., Xia Z., Bejjani B.A., Ou Z.,
RA Wiszniewska J., Driscoll D.J., Maisenbacher M.K., Bolivar J., Bauer M.,
RA Zackai E.H., McDonald-McGinn D., Nowaczyk M.M., Murray M., Hustead V.,
RA Mascotti K., Schultz R., Hallam L., McRae D., Nicholson A.G., Newbury R.,
RA Durham-O'Donnell J., Knight G., Kini U., Shaikh T.H., Martin V.,
RA Tyreman M., Simonic I., Willatt L., Paterson J., Mehta S., Rajan D.,
RA Fitzgerald T., Gribble S., Prigmore E., Patel A., Shaffer L.G.,
RA Carter N.P., Cheung S.W., Langston C., Shaw-Smith C.;
RT "Genomic and genic deletions of the FOX gene cluster on 16q24.1 and
RT inactivating mutations of FOXF1 cause alveolar capillary dysplasia and
RT other malformations.";
RL Am. J. Hum. Genet. 84:780-791(2009).
RN [8]
RP VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85;
RP SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106;
RP 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.
RX PubMed=23505205; DOI=10.1002/humu.22313;
RA Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E.,
RA Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B.,
RA Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K.,
RA Lantz P.E., Garvin A.J., Petty J., Kiblawi Z., Zuppan C.,
RA McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T.,
RA Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V.,
RA Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C.,
RA Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S.,
RA Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R.,
RA Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E.,
RA Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H.,
RA Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L.,
RA Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A.,
RA Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S.,
RA Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L.,
RA Langston C., Welty S., Stankiewicz P.;
RT "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary
RT dysplasia with misaligned pulmonary veins imply a role for its DNA binding
RT domain.";
RL Hum. Mutat. 34:801-811(2013).
RN [9]
RP VARIANT ACDMPV LEU-77.
RX PubMed=27145217; DOI=10.1002/ppul.23425;
RA Reiter J., Szafranski P., Breuer O., Perles Z., Dagan T., Stankiewicz P.,
RA Kerem E.;
RT "Variable phenotypic presentation of a novel FOXF1 missense mutation in a
RT single family.";
RL Pediatr. Pulmonol. 51:921-927(2016).
CC -!- FUNCTION: Probable transcription activator for a number of lung-
CC specific genes.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed in lung and placenta.
CC {ECO:0000269|PubMed:7957066}.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal lung.
CC {ECO:0000269|PubMed:7957066}.
CC -!- DOMAIN: Activation domains C-terminal of (and distinct from) the
CC forkhead domains are necessary for transcriptional activation.
CC -!- DISEASE: Alveolar capillary dysplasia with misalignment of pulmonary
CC veins (ACDMPV) [MIM:265380]: A rare developmental disorder
CC characterized by abnormal development of the capillary vascular system
CC in the lungs. Histological features include failure of formation and
CC ingrowth of alveolar capillaries, medial muscular thickening of small
CC pulmonary arterioles with muscularization of the intraacinar
CC arterioles, thickened alveolar walls, and anomalously situated
CC pulmonary veins running alongside pulmonary arterioles and sharing the
CC same adventitial sheath. Less common features include a reduced number
CC of alveoli and a patchy distribution of the histopathologic changes.
CC Affected infants present with respiratory distress and the disease is
CC fatal within the newborn period. Additional features include multiple
CC congenital anomalies affecting the cardiovascular, gastrointestinal,
CC genitourinary, and musculoskeletal systems, as well as disruption of
CC the normal right-left asymmetry of intrathoracic or intraabdominal
CC organs. ACDMPV is a rare cause of persistent pulmonary hypertension of
CC the newborn, an abnormal physiologic state caused by failure of
CC transition of the pulmonary circulation from the high pulmonary
CC vascular resistance of the fetus to the low pulmonary vascular
CC resistance of the newborn. {ECO:0000269|PubMed:19500772,
CC ECO:0000269|PubMed:23505205, ECO:0000269|PubMed:27145217}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-26 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC50399.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAC61576.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAH89442.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAG36851.1; Type=Frameshift; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/FOXF1ID40628ch16q24.html";
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DR EMBL; U13219; AAC50399.1; ALT_INIT; mRNA.
DR EMBL; AF085343; AAC61576.1; ALT_INIT; Genomic_DNA.
DR EMBL; AF085342; AAC61576.1; JOINED; Genomic_DNA.
DR EMBL; AK314167; BAG36851.1; ALT_FRAME; mRNA.
DR EMBL; AC009108; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC089442; AAH89442.1; ALT_INIT; mRNA.
DR CCDS; CCDS10957.2; -.
DR PIR; S51624; S51624.
DR RefSeq; NP_001442.2; NM_001451.2.
DR AlphaFoldDB; Q12946; -.
DR BioGRID; 108583; 41.
DR IntAct; Q12946; 15.
DR MINT; Q12946; -.
DR STRING; 9606.ENSP00000262426; -.
DR iPTMnet; Q12946; -.
DR PhosphoSitePlus; Q12946; -.
DR BioMuta; FOXF1; -.
DR DMDM; 238054293; -.
DR jPOST; Q12946; -.
DR MassIVE; Q12946; -.
DR MaxQB; Q12946; -.
DR PaxDb; Q12946; -.
DR PeptideAtlas; Q12946; -.
DR PRIDE; Q12946; -.
DR ProteomicsDB; 59041; -.
DR Antibodypedia; 17194; 254 antibodies from 31 providers.
DR DNASU; 2294; -.
DR Ensembl; ENST00000262426.6; ENSP00000262426.4; ENSG00000103241.7.
DR GeneID; 2294; -.
DR KEGG; hsa:2294; -.
DR MANE-Select; ENST00000262426.6; ENSP00000262426.4; NM_001451.3; NP_001442.2.
DR UCSC; uc002fjl.4; human.
DR CTD; 2294; -.
DR DisGeNET; 2294; -.
DR GeneCards; FOXF1; -.
DR HGNC; HGNC:3809; FOXF1.
DR HPA; ENSG00000103241; Tissue enhanced (intestine, urinary bladder).
DR MalaCards; FOXF1; -.
DR MIM; 265380; phenotype.
DR MIM; 601089; gene.
DR neXtProt; NX_Q12946; -.
DR OpenTargets; ENSG00000103241; -.
DR Orphanet; 210122; Congenital alveolar capillary dysplasia.
DR PharmGKB; PA28226; -.
DR VEuPathDB; HostDB:ENSG00000103241; -.
DR eggNOG; KOG2294; Eukaryota.
DR GeneTree; ENSGT00940000161035; -.
DR HOGENOM; CLU_039845_1_0_1; -.
DR InParanoid; Q12946; -.
DR OMA; SGVMEPH; -.
DR OrthoDB; 1120805at2759; -.
DR PhylomeDB; Q12946; -.
DR TreeFam; TF351598; -.
DR PathwayCommons; Q12946; -.
DR SignaLink; Q12946; -.
DR SIGNOR; Q12946; -.
DR BioGRID-ORCS; 2294; 26 hits in 1095 CRISPR screens.
DR GeneWiki; FOXF1; -.
DR GenomeRNAi; 2294; -.
DR Pharos; Q12946; Tbio.
DR PRO; PR:Q12946; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q12946; protein.
DR Bgee; ENSG00000103241; Expressed in muscle layer of sigmoid colon and 127 other tissues.
DR Genevisible; Q12946; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0005667; C:transcription regulator complex; TAS:ProtInc.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IMP:NTNU_SB.
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:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IMP:NTNU_SB.
DR GO; GO:0043565; F:sequence-specific DNA binding; ISS:UniProtKB.
DR GO; GO:0009887; P:animal organ morphogenesis; IBA:GO_Central.
DR GO; GO:0001568; P:blood vessel development; IMP:DFLAT.
DR GO; GO:0003214; P:cardiac left ventricle morphogenesis; IMP:DFLAT.
DR GO; GO:0098609; P:cell-cell adhesion; IEA:Ensembl.
DR GO; GO:0071345; P:cellular response to cytokine stimulus; IEA:Ensembl.
DR GO; GO:0071407; P:cellular response to organic cyclic compound; IEA:Ensembl.
DR GO; GO:0014822; P:detection of wounding; IEA:Ensembl.
DR GO; GO:0007368; P:determination of left/right symmetry; IEA:Ensembl.
DR GO; GO:0048565; P:digestive tract development; IMP:DFLAT.
DR GO; GO:0097070; P:ductus arteriosus closure; IMP:DFLAT.
DR GO; GO:0048557; P:embryonic digestive tract morphogenesis; IMP:DFLAT.
DR GO; GO:0048613; P:embryonic ectodermal digestive tract morphogenesis; IMP:DFLAT.
DR GO; GO:0048617; P:embryonic foregut morphogenesis; IEA:Ensembl.
DR GO; GO:0003197; P:endocardial cushion development; IMP:DFLAT.
DR GO; GO:0061030; P:epithelial cell differentiation involved in mammary gland alveolus development; IEA:Ensembl.
DR GO; GO:0060441; P:epithelial tube branching involved in lung morphogenesis; IEA:Ensembl.
DR GO; GO:0045198; P:establishment of epithelial cell apical/basal polarity; IEA:Ensembl.
DR GO; GO:0030198; P:extracellular matrix organization; IEA:Ensembl.
DR GO; GO:0007507; P:heart development; IMP:DFLAT.
DR GO; GO:0001701; P:in utero embryonic development; IMP:DFLAT.
DR GO; GO:0048371; P:lateral mesodermal cell differentiation; IEA:Ensembl.
DR GO; GO:0048286; P:lung alveolus development; IEA:Ensembl.
DR GO; GO:0030324; P:lung development; IMP:DFLAT.
DR GO; GO:0060463; P:lung lobe morphogenesis; IEA:Ensembl.
DR GO; GO:0060426; P:lung vasculature development; IMP:DFLAT.
DR GO; GO:0090131; P:mesenchyme migration; IEA:Ensembl.
DR GO; GO:0007494; P:midgut development; IMP:DFLAT.
DR GO; GO:0001763; P:morphogenesis of a branching structure; IMP:DFLAT.
DR GO; GO:0050728; P:negative regulation of inflammatory response; IEA:Ensembl.
DR GO; GO:0043305; P:negative regulation of mast cell degranulation; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0031016; P:pancreas development; IMP:DFLAT.
DR GO; GO:0030335; P:positive regulation of cell migration; IEA:Ensembl.
DR GO; GO:0010811; P:positive regulation of cell-substrate adhesion; IEA:Ensembl.
DR GO; GO:0002053; P:positive regulation of mesenchymal cell proliferation; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IMP:NTNU_SB.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0030323; P:respiratory tube development; IMP:DFLAT.
DR GO; GO:0060461; P:right lung morphogenesis; IEA:Ensembl.
DR GO; GO:0051145; P:smooth muscle cell differentiation; IEA:Ensembl.
DR GO; GO:0007224; P:smoothened signaling pathway; IEA:Ensembl.
DR GO; GO:0001756; P:somitogenesis; IEA:Ensembl.
DR GO; GO:0060438; P:trachea development; IMP:DFLAT.
DR GO; GO:0072189; P:ureter development; IMP:DFLAT.
DR GO; GO:0001570; P:vasculogenesis; IEA:Ensembl.
DR GO; GO:0060841; P:venous blood vessel development; IMP:DFLAT.
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 1: Evidence at protein level;
KW Activator; Disease variant; DNA-binding; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..379
FT /note="Forkhead box protein F1"
FT /id="PRO_0000091832"
FT DNA_BIND 47..138
FT /note="Fork-head"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00089"
FT REGION 1..45
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 49
FT /note="P -> Q (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071016"
FT VARIANT 49
FT /note="P -> S (in ACDMPV; dbSNP:rs1597291206)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071017"
FT VARIANT 52
FT /note="S -> F (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071018"
FT VARIANT 53
FT /note="Y -> C (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071019"
FT VARIANT 74
FT /note="I -> N (in ACDMPV; dbSNP:rs1597291255)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071020"
FT VARIANT 77
FT /note="F -> L (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:27145217"
FT /id="VAR_076592"
FT VARIANT 85
FT /note="F -> I (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071021"
FT VARIANT 85
FT /note="F -> L (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071022"
FT VARIANT 85
FT /note="F -> S (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071023"
FT VARIANT 86
FT /note="R -> W (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071024"
FT VARIANT 91
FT /note="G -> E (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071025"
FT VARIANT 91
FT /note="G -> V (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071026"
FT VARIANT 96
FT /note="V -> M (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071027"
FT VARIANT 97
FT /note="R -> H (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071028"
FT VARIANT 98
FT /note="H -> Q (in ACDMPV; dbSNP:rs1597291300)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071029"
FT VARIANT 101
FT /note="S -> L (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071030"
FT VARIANT 106
FT /note="F -> L (in ACDMPV; dbSNP:rs1597291318)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071031"
FT VARIANT 113..119
FT /note="Missing (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071032"
FT VARIANT 119
FT /note="G -> D (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071033"
FT VARIANT 126
FT /note="P -> L (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071034"
FT VARIANT 139
FT /note="R -> L (in ACDMPV)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071035"
FT VARIANT 330
FT /note="R -> W (in ACDMPV; unknown pathological
FT significance; dbSNP:rs761162914)"
FT /evidence="ECO:0000269|PubMed:23505205"
FT /id="VAR_071036"
SQ SEQUENCE 379 AA; 40122 MW; CA3DE3CEFB94FC3E CRC64;
MSSAPEKQQP PHGGGGGGGG GGGAAMDPAS SGPSKAKKTN AGIRRPEKPP YSYIALIVMA
IQSSPTKRLT LSEIYQFLQS RFPFFRGSYQ GWKNSVRHNL SLNECFIKLP KGLGRPGKGH
YWTIDPASEF MFEEGSFRRR PRGFRRKCQA LKPMYSMMNG LGFNHLPDTY GFQGSAGGLS
CPPNSLALEG GLGMMNGHLP GNVDGMALPS HSVPHLPSNG GHSYMGGCGG AAAGEYPHHD
SSVPASPLLP TGAGGVMEPH AVYSGSAAAW PPSASAALNS GASYIKQQPL SPCNPAANPL
SGSLSTHSLE QPYLHQNSHN APAELQGIPR YHSQSPSMCD RKEFVFSFNA MASSSMHSAG
GGSYYHQQVT YQDIKPCVM
