FOXD1_HUMAN
ID FOXD1_HUMAN Reviewed; 465 AA.
AC Q16676; Q12949;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1997, sequence version 1.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Forkhead box protein D1;
DE AltName: Full=Forkhead-related protein FKHL8;
DE AltName: Full=Forkhead-related transcription factor 4;
DE Short=FREAC-4;
GN Name=FOXD1; Synonyms=FKHL8, FREAC4;
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 / MRNA].
RX PubMed=8702877; DOI=10.1074/jbc.271.35.21094;
RA Ernstsson S., Pierrou S., Hulander M., Cederberg A., Hellqvist M.,
RA Carlsson P., Enerbaeck S.;
RT "Characterization of the human forkhead gene FREAC-4. Evidence for
RT regulation by Wilms' tumor suppressor gene (WT-1) and p53.";
RL J. Biol. Chem. 271:21094-21099(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 120-225.
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 [3]
RP FUNCTION, VARIANTS PRO-55; GLY-88; LEU-228; THR-326; VAL-336; ARG-352;
RP GLY-356; MET-364; 383-GLN--ALA-387 DEL; LEU-396; ILE-437 AND SER-442, AND
RP CHARACTERIZATION OF VARIANTS GLY-356 AND MET-364.
RX PubMed=27805902; DOI=10.1098/rsob.160109;
RA Laissue P., Lakhal B., Vatin M., Batista F., Burgio G., Mercier E.,
RA Santos E.D., Buffat C., Sierra-Diaz D.C., Renault G., Montagutelli X.,
RA Salmon J., Monget P., Veitia R.A., Mehats C., Fellous M., Gris J.C.,
RA Cocquet J., Vaiman D.;
RT "Association of FOXD1 variants with adverse pregnancy outcomes in mice and
RT humans.";
RL Open Biol. 6:0-0(2016).
CC -!- FUNCTION: Transcription factor involved in regulation of gene
CC expression in a variety of processes, including formation of positional
CC identity in the developing retina, regionalization of the optic chiasm,
CC morphogenesis of the kidney, and neuralization of ectodermal cells (By
CC similarity). Involved in transcriptional activation of PGF and C3 genes
CC (PubMed:27805902). {ECO:0000250|UniProtKB:Q61345,
CC ECO:0000269|PubMed:27805902}.
CC -!- SUBCELLULAR LOCATION: Nucleus.
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DR EMBL; U59831; AAC50660.1; -; Genomic_DNA.
DR EMBL; U59832; AAC50661.1; -; mRNA.
DR EMBL; U13222; AAA92039.1; -; mRNA.
DR CCDS; CCDS75259.1; -.
DR PIR; G02738; G02738.
DR PIR; S51627; S51627.
DR RefSeq; NP_004463.1; NM_004472.2.
DR AlphaFoldDB; Q16676; -.
DR SMR; Q16676; -.
DR BioGRID; 108586; 3.
DR STRING; 9606.ENSP00000481581; -.
DR iPTMnet; Q16676; -.
DR PhosphoSitePlus; Q16676; -.
DR BioMuta; FOXD1; -.
DR DMDM; 2494490; -.
DR MassIVE; Q16676; -.
DR PaxDb; Q16676; -.
DR PeptideAtlas; Q16676; -.
DR PRIDE; Q16676; -.
DR ProteomicsDB; 61032; -.
DR Antibodypedia; 62630; 211 antibodies from 23 providers.
DR DNASU; 2297; -.
DR Ensembl; ENST00000615637.3; ENSP00000481581.1; ENSG00000251493.5.
DR GeneID; 2297; -.
DR KEGG; hsa:2297; -.
DR MANE-Select; ENST00000615637.3; ENSP00000481581.1; NM_004472.3; NP_004463.1.
DR UCSC; uc032uyj.2; human.
DR CTD; 2297; -.
DR DisGeNET; 2297; -.
DR GeneCards; FOXD1; -.
DR HGNC; HGNC:3802; FOXD1.
DR HPA; ENSG00000251493; Tissue enhanced (brain, choroid plexus).
DR MIM; 601091; gene.
DR neXtProt; NX_Q16676; -.
DR OpenTargets; ENSG00000251493; -.
DR PharmGKB; PA28219; -.
DR VEuPathDB; HostDB:ENSG00000251493; -.
DR eggNOG; KOG2294; Eukaryota.
DR GeneTree; ENSGT00940000161645; -.
DR HOGENOM; CLU_040357_5_1_1; -.
DR InParanoid; Q16676; -.
DR OMA; HAGTIIP; -.
DR OrthoDB; 1270467at2759; -.
DR PathwayCommons; Q16676; -.
DR SignaLink; Q16676; -.
DR BioGRID-ORCS; 2297; 21 hits in 344 CRISPR screens.
DR ChiTaRS; FOXD1; human.
DR GenomeRNAi; 2297; -.
DR Pharos; Q16676; Tbio.
DR PRO; PR:Q16676; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q16676; protein.
DR Bgee; ENSG00000251493; Expressed in tibia and 111 other tissues.
DR Genevisible; Q16676; 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; IDA:UniProtKB.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:ProtInc.
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:0007411; P:axon guidance; IEA:Ensembl.
DR GO; GO:0060070; P:canonical Wnt signaling pathway; IEA:Ensembl.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0060678; P:dichotomous subdivision of terminal units involved in ureteric bud branching; ISS:UniProtKB.
DR GO; GO:0032275; P:luteinizing hormone secretion; IEA:Ensembl.
DR GO; GO:0072213; P:metanephric capsule development; ISS:UniProtKB.
DR GO; GO:0072267; P:metanephric capsule specification; ISS:UniProtKB.
DR GO; GO:0072210; P:metanephric nephron development; IEA:Ensembl.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; ISS:UniProtKB.
DR GO; GO:0072076; P:nephrogenic mesenchyme development; IEA:Ensembl.
DR GO; GO:0030513; P:positive regulation of BMP signaling pathway; ISS:UniProtKB.
DR GO; GO:0010628; P:positive regulation of gene expression; ISS:UniProtKB.
DR GO; GO:0090184; P:positive regulation of kidney development; ISS:UniProtKB.
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 1: Evidence at protein level;
KW DNA-binding; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..465
FT /note="Forkhead box protein D1"
FT /id="PRO_0000091811"
FT DNA_BIND 124..215
FT /note="Fork-head"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00089"
FT REGION 1..117
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 391..410
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 19..39
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 64..78
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 55
FT /note="R -> P (in dbSNP:rs775281482)"
FT /evidence="ECO:0000269|PubMed:27805902"
FT /id="VAR_077596"
FT VARIANT 88
FT /note="A -> G (in dbSNP:rs7705335)"
FT /evidence="ECO:0000269|PubMed:27805902"
FT /id="VAR_077597"
FT VARIANT 228
FT /note="P -> L (in dbSNP:rs562222810)"
FT /evidence="ECO:0000269|PubMed:27805902"
FT /id="VAR_077598"
FT VARIANT 326
FT /note="A -> T (in dbSNP:rs552595262)"
FT /evidence="ECO:0000269|PubMed:27805902"
FT /id="VAR_077599"
FT VARIANT 336
FT /note="A -> V (in dbSNP:rs1039708369)"
FT /evidence="ECO:0000269|PubMed:27805902"
FT /id="VAR_077600"
FT VARIANT 352
FT /note="P -> R (in dbSNP:rs951256776)"
FT /evidence="ECO:0000269|PubMed:27805902"
FT /id="VAR_077601"
FT VARIANT 356
FT /note="A -> G (decreased activation of transcription from
FT PGF and C3 promoters; dbSNP:rs917127030)"
FT /evidence="ECO:0000269|PubMed:27805902"
FT /id="VAR_077602"
FT VARIANT 364
FT /note="I -> M (increased activation of transcription from
FT the C3 promoter but no effect on the PGF promoter;
FT dbSNP:rs992724147)"
FT /evidence="ECO:0000269|PubMed:27805902"
FT /id="VAR_077603"
FT VARIANT 383..387
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:27805902"
FT /id="VAR_077604"
FT VARIANT 396
FT /note="P -> L (in dbSNP:rs540644822)"
FT /evidence="ECO:0000269|PubMed:27805902"
FT /id="VAR_077605"
FT VARIANT 437
FT /note="V -> I"
FT /evidence="ECO:0000269|PubMed:27805902"
FT /id="VAR_077606"
FT VARIANT 442
FT /note="A -> S"
FT /evidence="ECO:0000269|PubMed:27805902"
FT /id="VAR_077607"
SQ SEQUENCE 465 AA; 46140 MW; D3E7854909CCBFAE CRC64;
MTLSTEMSDA SGLAEETDID VVGEGEDEED EEEEDDDEGG GGGPRLAVPA QRRRRRRSYA
GEDELEDLEE EEDDDDILLA PPAGGSPAPP GPAPAAGAGA GGGGGGGGAG GGGSAGSGAK
NPLVKPPYSY IALITMAILQ SPKKRLTLSE ICEFISGRFP YYREKFPAWQ NSIRHNLSLN
DCFVKIPREP GNPGKGNYWT LDPESADMFD NGSFLRRRKR FKRQPLLPPN AAAAESLLLR
GAGAAGGAGD PAAAAALFPP APPPPPHAYG YGPYGCGYGL QLPPYAPPSA LFAAAAAAAA
AAAFHPHSPP PPPPPHGAAA ELARTAFGYR PHPLGAALPG PLPASAAKAG GPGASALARS
PFSIESIIGG SLGPAAAAAA AAQAAAAAQA SPSPSPVAAP PAPGSSGGGC AAQAAVGPAA
ALTRSLVAAA AAAASSVSSS AALGTLHQGT ALSSVENFTA RISNC
