FOXS1_HUMAN
ID FOXS1_HUMAN Reviewed; 330 AA.
AC O43638; Q96D28;
DT 15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
DT 04-JAN-2005, sequence version 2.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Forkhead box protein S1;
DE AltName: Full=Forkhead-like 18 protein;
DE AltName: Full=Forkhead-related transcription factor 10;
DE Short=FREAC-10;
GN Name=FOXS1; Synonyms=FKHL18, FREAC10;
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 [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Muscle;
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 [MRNA] OF 9-119.
RX PubMed=9325056; DOI=10.1006/geno.1997.4864;
RA Cederberg A., Betz R., Lagercrantz S., Larsson C., Hulander M.,
RA Carlsson P., Enerbaeck S.;
RT "Chromosome localization, sequence analysis, and expression pattern
RT identify FKHL 18 as a novel human forkhead gene.";
RL Genomics 44:344-346(1997).
CC -!- FUNCTION: Transcriptional repressor that suppresses transcription from
CC the FASLG, FOXO3 and FOXO4 promoters. May have a role in the
CC organization of the testicular vasculature (By similarity).
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089}.
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DR EMBL; BT009768; AAP88770.1; -; mRNA.
DR EMBL; AL160175; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC013408; AAH13408.1; -; mRNA.
DR EMBL; AF042831; AAC15420.1; -; mRNA.
DR CCDS; CCDS13192.1; -.
DR RefSeq; NP_004109.1; NM_004118.3.
DR AlphaFoldDB; O43638; -.
DR SMR; O43638; -.
DR BioGRID; 108596; 88.
DR IntAct; O43638; 73.
DR MINT; O43638; -.
DR STRING; 9606.ENSP00000365145; -.
DR iPTMnet; O43638; -.
DR PhosphoSitePlus; O43638; -.
DR BioMuta; FOXS1; -.
DR jPOST; O43638; -.
DR MassIVE; O43638; -.
DR MaxQB; O43638; -.
DR PaxDb; O43638; -.
DR PeptideAtlas; O43638; -.
DR PRIDE; O43638; -.
DR ProteomicsDB; 49087; -.
DR Antibodypedia; 25256; 88 antibodies from 21 providers.
DR DNASU; 2307; -.
DR Ensembl; ENST00000375978.5; ENSP00000365145.3; ENSG00000179772.8.
DR GeneID; 2307; -.
DR KEGG; hsa:2307; -.
DR MANE-Select; ENST00000375978.5; ENSP00000365145.3; NM_004118.4; NP_004109.1.
DR UCSC; uc002wwt.2; human.
DR CTD; 2307; -.
DR DisGeNET; 2307; -.
DR GeneCards; FOXS1; -.
DR HGNC; HGNC:3735; FOXS1.
DR HPA; ENSG00000179772; Low tissue specificity.
DR MIM; 602939; gene.
DR neXtProt; NX_O43638; -.
DR OpenTargets; ENSG00000179772; -.
DR PharmGKB; PA162388894; -.
DR VEuPathDB; HostDB:ENSG00000179772; -.
DR eggNOG; KOG2294; Eukaryota.
DR GeneTree; ENSGT00940000162811; -.
DR HOGENOM; CLU_839247_0_0_1; -.
DR InParanoid; O43638; -.
DR OMA; HYIMGRF; -.
DR OrthoDB; 1270467at2759; -.
DR PhylomeDB; O43638; -.
DR TreeFam; TF316127; -.
DR PathwayCommons; O43638; -.
DR SignaLink; O43638; -.
DR SIGNOR; O43638; -.
DR BioGRID-ORCS; 2307; 15 hits in 1093 CRISPR screens.
DR GenomeRNAi; 2307; -.
DR Pharos; O43638; Tbio.
DR PRO; PR:O43638; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; O43638; protein.
DR Bgee; ENSG00000179772; Expressed in right coronary artery and 98 other tissues.
DR Genevisible; O43638; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0003677; F:DNA binding; ISS:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0009653; P:anatomical structure morphogenesis; IBA:GO_Central.
DR GO; GO:0001568; P:blood vessel development; ISS:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0043433; P:negative regulation of DNA-binding transcription factor activity; ISS:UniProtKB.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; ISS:UniProtKB.
DR GO; GO:0050885; P:neuromuscular process controlling balance; IEA:Ensembl.
DR GO; GO:0040018; P:positive regulation of multicellular organism growth; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
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; Repressor; Transcription;
KW Transcription regulation.
FT CHAIN 1..330
FT /note="Forkhead box protein S1"
FT /id="PRO_0000091893"
FT DNA_BIND 17..108
FT /note="Fork-head"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00089"
FT REGION 111..157
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 179..200
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 292
FT /note="P -> A (in dbSNP:rs2296917)"
FT /id="VAR_021844"
SQ SEQUENCE 330 AA; 35434 MW; BBF10321A8DC1744 CRC64;
MQQQPLPGPG APTTEPTKPP YSYIALIAMA IQSSPGQRAT LSGIYRYIMG RFAFYRHNRP
GWQNSIRHNL SLNECFVKVP RDDRKPGKGS YWTLDPDCHD MFEHGSFLRR RRRFTRQTGA
EGTRGPAKAR RGPLRATSQD PGVPNATTGR QCSFPPELPD PKGLSFGGLV GAMPASMCPA
TTDGRPRPPM EPKEISTPKP ACPGELPVAT SSSSCPAFGF PAGFSEAESF NKAPTPVLSP
ESGIGSSYQC RLQALNFCMG ADPGLEHLLA SAAPSPAPPT PPGSLRAPLP LPTDHKEPWV
AGGFPVQGGS GYPLGLTPCL YRTPGMFFFE