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Forkhead box protein D1 (Forkhead-related protein FKHL8) (Forkhead-related transcription factor 4) (FREAC-4)

 FOXD1_HUMAN             Reviewed;         465 AA.
Q16676; Q12949;
01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
01-NOV-1997, sequence version 1.
25-OCT-2017, entry version 131.
RecName: Full=Forkhead box protein D1;
AltName: Full=Forkhead-related protein FKHL8;
AltName: Full=Forkhead-related transcription factor 4;
Short=FREAC-4;
Name=FOXD1; Synonyms=FKHL8, FREAC4;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
PubMed=8702877; DOI=10.1074/jbc.271.35.21094;
Ernstsson S., Pierrou S., Hulander M., Cederberg A., Hellqvist M.,
Carlsson P., Enerbaeck S.;
"Characterization of the human forkhead gene FREAC-4. Evidence for
regulation by Wilms' tumor suppressor gene (WT-1) and p53.";
J. Biol. Chem. 271:21094-21099(1996).
[2]
NUCLEOTIDE SEQUENCE [MRNA] OF 120-225.
PubMed=7957066;
Pierrou S., Hellqvist M., Samuelsson L., Enerbaeck S., Carlsson P.;
"Cloning and characterization of seven human forkhead proteins:
binding site specificity and DNA bending.";
EMBO J. 13:5002-5012(1994).
[3]
FUNCTION, VARIANTS PRO-55; GLY-88; LEU-228; THR-326; VAL-336; ARG-352;
GLY-356; MET-364; 383-GLN--ALA-387 DEL; LEU-396; ILE-437 AND SER-442,
AND CHARACTERIZATION OF VARIANTS GLY-356 AND MET-364.
PubMed=27805902; DOI=10.1098/rsob.160109;
Laissue P., Lakhal B., Vatin M., Batista F., Burgio G., Mercier E.,
Santos E.D., Buffat C., Sierra-Diaz D.C., Renault G., Montagutelli X.,
Salmon J., Monget P., Veitia R.A., Mehats C., Fellous M., Gris J.C.,
Cocquet J., Vaiman D.;
"Association of FOXD1 variants with adverse pregnancy outcomes in mice
and humans.";
Open Biol. 6:0-0(2016).
-!- FUNCTION: Transcription factor involved in regulation of gene
expression in a variety of processes, including formation of
positional identity in the developing retina, regionalization of
the optic chiasm, morphogenesis of the kidney, and neuralization
of ectodermal cells (By similarity). Involved in transcriptional
activation of PGF and C3 genes (PubMed:27805902).
{ECO:0000250|UniProtKB:Q61345, ECO:0000269|PubMed:27805902}.
-!- SUBCELLULAR LOCATION: Nucleus.
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EMBL; U59831; AAC50660.1; -; Genomic_DNA.
EMBL; U59832; AAC50661.1; -; mRNA.
EMBL; U13222; AAA92039.1; -; mRNA.
CCDS; CCDS75259.1; -.
PIR; G02738; G02738.
PIR; S51627; S51627.
RefSeq; NP_004463.1; NM_004472.2.
UniGene; Hs.519385; -.
ProteinModelPortal; Q16676; -.
SMR; Q16676; -.
BioGrid; 108586; 2.
STRING; 9606.ENSP00000462795; -.
iPTMnet; Q16676; -.
PhosphoSitePlus; Q16676; -.
BioMuta; FOXD1; -.
DMDM; 2494490; -.
EPD; Q16676; -.
PaxDb; Q16676; -.
PeptideAtlas; Q16676; -.
PRIDE; Q16676; -.
DNASU; 2297; -.
Ensembl; ENST00000615637; ENSP00000481581; ENSG00000251493.
GeneID; 2297; -.
KEGG; hsa:2297; -.
UCSC; uc032uyj.2; human.
CTD; 2297; -.
DisGeNET; 2297; -.
EuPathDB; HostDB:ENSG00000251493.3; -.
GeneCards; FOXD1; -.
HGNC; HGNC:3802; FOXD1.
MIM; 601091; gene.
neXtProt; NX_Q16676; -.
OpenTargets; ENSG00000251493; -.
PharmGKB; PA28219; -.
eggNOG; KOG2294; Eukaryota.
eggNOG; COG5025; LUCA.
GeneTree; ENSGT00760000118904; -.
HOVERGEN; HBG051641; -.
InParanoid; Q16676; -.
KO; K09397; -.
OMA; GYGPYGC; -.
OrthoDB; EOG091G0HW9; -.
SignaLink; Q16676; -.
ChiTaRS; FOXD1; human.
GenomeRNAi; 2297; -.
PRO; PR:Q16676; -.
Proteomes; UP000005640; Chromosome 5.
Bgee; ENSG00000251493; -.
CleanEx; HS_FOXD1; -.
Genevisible; Q16676; HS.
GO; GO:0005634; C:nucleus; IBA:GO_Central.
GO; GO:0003677; F:DNA binding; IDA:MGI.
GO; GO:0008301; F:DNA binding, bending; IDA:UniProtKB.
GO; GO:0000978; F:RNA polymerase II core promoter proximal region sequence-specific DNA binding; IEA:Ensembl.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; IBA:GO_Central.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; TAS:ProtInc.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding; IEA:Ensembl.
GO; GO:0009653; P:anatomical structure morphogenesis; IBA:GO_Central.
GO; GO:0007411; P:axon guidance; IEA:Ensembl.
GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
GO; GO:0060678; P:dichotomous subdivision of terminal units involved in ureteric bud branching; ISS:UniProtKB.
GO; GO:0032275; P:luteinizing hormone secretion; IEA:Ensembl.
GO; GO:0072213; P:metanephric capsule development; ISS:UniProtKB.
GO; GO:0072267; P:metanephric capsule specification; ISS:UniProtKB.
GO; GO:0072210; P:metanephric nephron development; IEA:Ensembl.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; ISS:UniProtKB.
GO; GO:0072076; P:nephrogenic mesenchyme development; IEA:Ensembl.
GO; GO:0030513; P:positive regulation of BMP signaling pathway; ISS:UniProtKB.
GO; GO:0010628; P:positive regulation of gene expression; ISS:UniProtKB.
GO; GO:0090184; P:positive regulation of kidney development; ISS:UniProtKB.
CDD; cd00059; FH; 1.
Gene3D; 1.10.10.10; -; 1.
InterPro; IPR001766; Fork_head_dom.
InterPro; IPR018122; TF_fork_head_CS_1.
InterPro; IPR030456; TF_fork_head_CS_2.
InterPro; IPR036388; WH-like_DNA-bd_sf.
InterPro; IPR036390; WH_DNA-bd_sf.
Pfam; PF00250; Forkhead; 1.
PRINTS; PR00053; FORKHEAD.
SMART; SM00339; FH; 1.
SUPFAM; SSF46785; SSF46785; 1.
PROSITE; PS00657; FORK_HEAD_1; 1.
PROSITE; PS00658; FORK_HEAD_2; 1.
PROSITE; PS50039; FORK_HEAD_3; 1.
1: Evidence at protein level;
Complete proteome; DNA-binding; Nucleus; Polymorphism;
Reference proteome; Transcription; Transcription regulation.
CHAIN 1 465 Forkhead box protein D1.
/FTId=PRO_0000091811.
DNA_BIND 124 215 Fork-head. {ECO:0000255|PROSITE-
ProRule:PRU00089}.
COMPBIAS 26 34 Poly-Glu.
COMPBIAS 39 43 Poly-Gly.
COMPBIAS 52 57 Poly-Arg.
COMPBIAS 69 72 Poly-Glu.
COMPBIAS 73 76 Poly-Asp.
COMPBIAS 97 113 Poly-Gly.
COMPBIAS 231 234 Poly-Ala.
COMPBIAS 252 256 Poly-Ala.
COMPBIAS 259 266 Poly-Pro.
COMPBIAS 293 303 Poly-Ala.
COMPBIAS 309 315 Poly-Pro.
COMPBIAS 375 390 Poly-Ala.
COMPBIAS 428 434 Poly-Ala.
VARIANT 55 55 R -> P (in dbSNP:rs775281482).
{ECO:0000269|PubMed:27805902}.
/FTId=VAR_077596.
VARIANT 88 88 A -> G (in dbSNP:rs7705335).
{ECO:0000269|PubMed:27805902}.
/FTId=VAR_077597.
VARIANT 228 228 P -> L (in dbSNP:rs562222810).
{ECO:0000269|PubMed:27805902}.
/FTId=VAR_077598.
VARIANT 326 326 A -> T (in dbSNP:rs552595262).
{ECO:0000269|PubMed:27805902}.
/FTId=VAR_077599.
VARIANT 336 336 A -> V. {ECO:0000269|PubMed:27805902}.
/FTId=VAR_077600.
VARIANT 352 352 P -> R. {ECO:0000269|PubMed:27805902}.
/FTId=VAR_077601.
VARIANT 356 356 A -> G (polymorphism; decreased
activation of transcription from PGF and
C3 promoters).
{ECO:0000269|PubMed:27805902}.
/FTId=VAR_077602.
VARIANT 364 364 I -> M (polymorphism; increased
activation of transcription from the C3
promoter but no effect on the PGF
promoter). {ECO:0000269|PubMed:27805902}.
/FTId=VAR_077603.
VARIANT 383 387 Missing. {ECO:0000269|PubMed:27805902}.
/FTId=VAR_077604.
VARIANT 396 396 P -> L (in dbSNP:rs540644822).
{ECO:0000269|PubMed:27805902}.
/FTId=VAR_077605.
VARIANT 437 437 V -> I. {ECO:0000269|PubMed:27805902}.
/FTId=VAR_077606.
VARIANT 442 442 A -> S. {ECO:0000269|PubMed:27805902}.
/FTId=VAR_077607.
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


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