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Q12950

- FOXD4_HUMAN

UniProt

Q12950 - FOXD4_HUMAN

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Protein
Forkhead box protein D4
Gene
FOXD4, FKHL9, FOXD4A, FREAC5
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi104 – 19895Fork-head
Add
BLAST

GO - Molecular functioni

  1. DNA binding, bending Source: UniProtKB
  2. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: RefGenome
  3. double-stranded DNA binding Source: RefGenome
  4. sequence-specific DNA binding Source: UniProtKB
  5. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  6. transcription factor binding Source: RefGenome

GO - Biological processi

  1. axon extension involved in axon guidance Source: RefGenome
  2. branching involved in ureteric bud morphogenesis Source: RefGenome
  3. cartilage development Source: RefGenome
  4. enteric nervous system development Source: RefGenome
  5. iridophore differentiation Source: RefGenome
  6. kidney development Source: RefGenome
  7. lateral line nerve glial cell development Source: RefGenome
  8. melanocyte differentiation Source: RefGenome
  9. negative regulation of transcription from RNA polymerase II promoter Source: RefGenome
  10. neural crest cell migration Source: RefGenome
  11. pattern specification process Source: RefGenome
  12. peripheral nervous system development Source: RefGenome
  13. positive regulation of transcription from RNA polymerase II promoter Source: RefGenome
  14. regulation of sequence-specific DNA binding transcription factor activity Source: RefGenome
  15. sympathetic nervous system development Source: RefGenome
  16. transcription from RNA polymerase II promoter Source: GOC
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Forkhead box protein D4
Alternative name(s):
Forkhead-related protein FKHL9
Forkhead-related transcription factor 5
Short name:
FREAC-5
Myeloid factor-alpha
Gene namesi
Name:FOXD4
Synonyms:FKHL9, FOXD4A, FREAC5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:3805. FOXD4.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
  2. transcription factor complex Source: RefGenome
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28222.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 439439Forkhead box protein D4
PRO_0000091821Add
BLAST

Proteomic databases

PaxDbiQ12950.
PRIDEiQ12950.

Expressioni

Gene expression databases

BgeeiQ12950.
CleanExiHS_FOXD4.
GenevestigatoriQ12950.

Organism-specific databases

HPAiHPA012836.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000371940.

Structurei

3D structure databases

ProteinModelPortaliQ12950.
SMRiQ12950. Positions 104-199.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi205 – 29793Pro-rich
Add
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG5025.
HOVERGENiHBG051641.
InParanoidiQ12950.
KOiK09397.
OMAiPRDDSEF.
OrthoDBiEOG7C8GHD.
PhylomeDBiQ12950.
TreeFamiTF316127.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSiPR00053. FORKHEAD.
SMARTiSM00339. FH. 1 hit.
[Graphical view]
PROSITEiPS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q12950-1 [UniParc]FASTAAdd to Basket

« Hide

MNLPRAERLR STPQRSLRDS DGEDGKIDVL GEEEDEDEEE AASQQFLEQS    50
LQPGLQVARW GGVALPREHI EGGGGPSDPS EFGTEFRAPP RSAAASEDAR 100
QPAKPPSSYI ALITMAILQS PHKRLTLSGI CAFISDRFPY YRRKFPAWQN 150
SIRHNLSLND CFVKIPREPG RPGKGNYWSL DPASQDMFDN GSFLRRRKRF 200
QRHQPTPGAH LPHPFPLPAA HAALHNPRPG PLLGAPAPPQ PVPGAYPNTG 250
PGRRPYALLH PHPPRYLLLS APAYAGAPKK AEGADLATPA PFPCCSPHLV 300
LSLGRRARVW RRHREADASL SALRVSCKGS GERVQGLRRV CPRPRGATAP 350
CSSDRQACRT ILQQQQRHQE EDCANGCAPT KGAVLGGHLS AASALLRYQA 400
VAEGSGLTSL AAPLGGEGTS PVFLVSPTPS SLAESAGPS 439
Length:439
Mass (Da):47,309
Last modified:November 2, 2010 - v4
Checksum:i0CAB30E9283535A2
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti134 – 1341I → F.
Corresponds to variant rs10959293 [ dbSNP | Ensembl ].
VAR_028177
Natural varianti136 – 1361D → G.1 Publication
Corresponds to variant rs2492216 [ dbSNP | Ensembl ].
VAR_028178
Natural varianti152 – 1521I → V.1 Publication
Corresponds to variant rs7031810 [ dbSNP | Ensembl ].
VAR_028179

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF343004 Genomic DNA. Translation: AAL73341.1.
AL449043 Genomic DNA. Translation: CAH70545.1.
BC089432 mRNA. Translation: AAH89432.1.
BC136570 mRNA. Translation: AAI36571.1.
BC136571 mRNA. Translation: AAI36572.1.
U13223 mRNA. Translation: AAA92040.1.
AF452724 mRNA. Translation: AAN64909.1.
CCDSiCCDS34975.1.
PIRiS51628.
RefSeqiNP_997188.2. NM_207305.4.
UniGeneiHs.584759.

Genome annotation databases

EnsembliENST00000382500; ENSP00000371940; ENSG00000170122.
GeneIDi2298.
KEGGihsa:2298.
UCSCiuc003zfz.4. human.

Polymorphism databases

DMDMi311033480.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF343004 Genomic DNA. Translation: AAL73341.1 .
AL449043 Genomic DNA. Translation: CAH70545.1 .
BC089432 mRNA. Translation: AAH89432.1 .
BC136570 mRNA. Translation: AAI36571.1 .
BC136571 mRNA. Translation: AAI36572.1 .
U13223 mRNA. Translation: AAA92040.1 .
AF452724 mRNA. Translation: AAN64909.1 .
CCDSi CCDS34975.1.
PIRi S51628.
RefSeqi NP_997188.2. NM_207305.4.
UniGenei Hs.584759.

3D structure databases

ProteinModelPortali Q12950.
SMRi Q12950. Positions 104-199.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000371940.

Polymorphism databases

DMDMi 311033480.

Proteomic databases

PaxDbi Q12950.
PRIDEi Q12950.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000382500 ; ENSP00000371940 ; ENSG00000170122 .
GeneIDi 2298.
KEGGi hsa:2298.
UCSCi uc003zfz.4. human.

Organism-specific databases

CTDi 2298.
GeneCardsi GC09M000116.
HGNCi HGNC:3805. FOXD4.
HPAi HPA012836.
MIMi 601092. gene.
neXtProti NX_Q12950.
PharmGKBi PA28222.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5025.
HOVERGENi HBG051641.
InParanoidi Q12950.
KOi K09397.
OMAi PRDDSEF.
OrthoDBi EOG7C8GHD.
PhylomeDBi Q12950.
TreeFami TF316127.

Miscellaneous databases

GeneWikii FOXD4.
GenomeRNAii 2298.
NextBioi 9327.
PROi Q12950.
SOURCEi Search...

Gene expression databases

Bgeei Q12950.
CleanExi HS_FOXD4.
Genevestigatori Q12950.

Family and domain databases

Gene3Di 1.10.10.10. 1 hit.
InterProi IPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00250. Fork_head. 1 hit.
[Graphical view ]
PRINTSi PR00053. FORKHEAD.
SMARTi SM00339. FH. 1 hit.
[Graphical view ]
PROSITEi PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "FOXD4a and FOXD4b, two new winged helix transcription factors, are expressed in human leukemia cell lines."
    Freyaldenhoven B.S., Fried C., Wielckens K.
    Gene 294:131-140(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-136 AND VAL-152.
  2. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Chondrosarcoma and Testis.
  4. "Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending."
    Pierrou S., Hellqvist M., Samuelsson L., Enerbaeck S., Carlsson P.
    EMBO J. 13:5002-5012(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 99-204.
  5. "Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions."
    Fan Y., Newman T., Linardopoulou E., Trask B.J.
    Genome Res. 12:1663-1672(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 242-413.
    Tissue: Heart.

Entry informationi

Entry nameiFOXD4_HUMAN
AccessioniPrimary (citable) accession number: Q12950
Secondary accession number(s): B2RN05
, B9EGL7, Q5VVK1, Q8WXT6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 2, 2010
Last modified: July 9, 2014
This is version 120 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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