FOXD4_HUMAN
ID FOXD4_HUMAN Reviewed; 439 AA.
AC Q12950; B2RN05; B9EGL7; Q5VVK1; Q8WXT6;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 4.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Forkhead box protein D4;
DE AltName: Full=Forkhead-related protein FKHL9;
DE AltName: Full=Forkhead-related transcription factor 5;
DE Short=FREAC-5;
DE AltName: Full=Myeloid factor-alpha;
GN Name=FOXD4; Synonyms=FKHL9, FOXD4A, FREAC5;
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], AND VARIANTS GLY-136 AND VAL-152.
RX PubMed=12234674; DOI=10.1016/s0378-1119(02)00702-3;
RA Freyaldenhoven B.S., Fried C., Wielckens K.;
RT "FOXD4a and FOXD4b, two new winged helix transcription factors, are
RT expressed in human leukemia cell lines.";
RL Gene 294:131-140(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Chondrosarcoma, and Testis;
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 99-204.
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 [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 242-413.
RC TISSUE=Heart;
RX PubMed=12421752; DOI=10.1101/gr.338402;
RA Fan Y., Newman T., Linardopoulou E., Trask B.J.;
RT "Gene content and function of the ancestral chromosome fusion site in human
RT chromosome 2q13-2q14.1 and paralogous regions.";
RL Genome Res. 12:1663-1672(2002).
CC -!- INTERACTION:
CC Q12950; Q9ULX6: AKAP8L; NbExp=3; IntAct=EBI-11317801, EBI-357530;
CC Q12950; P60371: KRTAP10-6; NbExp=3; IntAct=EBI-11317801, EBI-12012928;
CC Q12950; P59991: KRTAP12-2; NbExp=3; IntAct=EBI-11317801, EBI-10176379;
CC Q12950; Q99750: MDFI; NbExp=3; IntAct=EBI-11317801, EBI-724076;
CC -!- SUBCELLULAR LOCATION: Nucleus.
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DR EMBL; AF343004; AAL73341.1; -; Genomic_DNA.
DR EMBL; AL449043; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC089432; AAH89432.1; -; mRNA.
DR EMBL; BC136570; AAI36571.1; -; mRNA.
DR EMBL; BC136571; AAI36572.1; -; mRNA.
DR EMBL; U13223; AAA92040.1; -; mRNA.
DR EMBL; AF452724; AAN64909.1; -; mRNA.
DR CCDS; CCDS34975.1; -.
DR PIR; S51628; S51628.
DR RefSeq; NP_997188.2; NM_207305.4.
DR AlphaFoldDB; Q12950; -.
DR SMR; Q12950; -.
DR BioGRID; 108587; 62.
DR IntAct; Q12950; 42.
DR MINT; Q12950; -.
DR STRING; 9606.ENSP00000371940; -.
DR iPTMnet; Q12950; -.
DR PhosphoSitePlus; Q12950; -.
DR BioMuta; FOXD4; -.
DR DMDM; 311033480; -.
DR MassIVE; Q12950; -.
DR PaxDb; Q12950; -.
DR PeptideAtlas; Q12950; -.
DR PRIDE; Q12950; -.
DR Antibodypedia; 8863; 193 antibodies from 26 providers.
DR DNASU; 2298; -.
DR Ensembl; ENST00000382500.4; ENSP00000371940.2; ENSG00000170122.6.
DR GeneID; 2298; -.
DR KEGG; hsa:2298; -.
DR MANE-Select; ENST00000382500.4; ENSP00000371940.2; NM_207305.5; NP_997188.2.
DR UCSC; uc003zfz.5; human.
DR CTD; 2298; -.
DR DisGeNET; 2298; -.
DR GeneCards; FOXD4; -.
DR HGNC; HGNC:3805; FOXD4.
DR HPA; ENSG00000170122; Low tissue specificity.
DR MIM; 601092; gene.
DR neXtProt; NX_Q12950; -.
DR OpenTargets; ENSG00000170122; -.
DR PharmGKB; PA28222; -.
DR VEuPathDB; HostDB:ENSG00000170122; -.
DR eggNOG; KOG2294; Eukaryota.
DR GeneTree; ENSGT00940000163353; -.
DR HOGENOM; CLU_040357_3_1_1; -.
DR InParanoid; Q12950; -.
DR OMA; QACRTIL; -.
DR OrthoDB; 1270467at2759; -.
DR PhylomeDB; Q12950; -.
DR TreeFam; TF316127; -.
DR PathwayCommons; Q12950; -.
DR SignaLink; Q12950; -.
DR BioGRID-ORCS; 2298; 364 hits in 1014 CRISPR screens.
DR GeneWiki; FOXD4; -.
DR GenomeRNAi; 2298; -.
DR Pharos; Q12950; Tbio.
DR PRO; PR:Q12950; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q12950; protein.
DR Bgee; ENSG00000170122; Expressed in cortical plate and 87 other tissues.
DR Genevisible; Q12950; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0008301; F:DNA binding, bending; 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:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; ISS: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: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; 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; 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..439
FT /note="Forkhead box protein D4"
FT /id="PRO_0000091821"
FT DNA_BIND 104..198
FT /note="Fork-head"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00089"
FT REGION 1..46
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 62..104
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 203..232
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 11..25
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 26..43
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 134
FT /note="I -> F (in dbSNP:rs10959293)"
FT /id="VAR_028177"
FT VARIANT 136
FT /note="D -> G (in dbSNP:rs2492216)"
FT /evidence="ECO:0000269|PubMed:12234674"
FT /id="VAR_028178"
FT VARIANT 152
FT /note="I -> V (in dbSNP:rs7031810)"
FT /evidence="ECO:0000269|PubMed:12234674"
FT /id="VAR_028179"
SQ SEQUENCE 439 AA; 47309 MW; 0CAB30E9283535A2 CRC64;
MNLPRAERLR STPQRSLRDS DGEDGKIDVL GEEEDEDEEE AASQQFLEQS LQPGLQVARW
GGVALPREHI EGGGGPSDPS EFGTEFRAPP RSAAASEDAR QPAKPPSSYI ALITMAILQS
PHKRLTLSGI CAFISDRFPY YRRKFPAWQN SIRHNLSLND CFVKIPREPG RPGKGNYWSL
DPASQDMFDN GSFLRRRKRF QRHQPTPGAH LPHPFPLPAA HAALHNPRPG PLLGAPAPPQ
PVPGAYPNTG PGRRPYALLH PHPPRYLLLS APAYAGAPKK AEGADLATPA PFPCCSPHLV
LSLGRRARVW RRHREADASL SALRVSCKGS GERVQGLRRV CPRPRGATAP CSSDRQACRT
ILQQQQRHQE EDCANGCAPT KGAVLGGHLS AASALLRYQA VAEGSGLTSL AAPLGGEGTS
PVFLVSPTPS SLAESAGPS
