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Q12950 (FOXD4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:FOXD4
Synonyms:FKHL9, FOXD4A, FREAC5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length439 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Nucleus.

Sequence similarities

Contains 1 fork-head DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxon extension involved in axon guidance

Inferred from Biological aspect of Ancestor. Source: RefGenome

branching involved in ureteric bud morphogenesis

Inferred from Biological aspect of Ancestor. Source: RefGenome

cartilage development

Inferred from Biological aspect of Ancestor. Source: RefGenome

embryo development

Inferred from Biological aspect of Ancestor. Source: RefGenome

enteric nervous system development

Inferred from Biological aspect of Ancestor. Source: RefGenome

iridophore differentiation

Inferred from Biological aspect of Ancestor. Source: RefGenome

kidney development

Inferred from Biological aspect of Ancestor. Source: RefGenome

lateral line nerve glial cell development

Inferred from Biological aspect of Ancestor. Source: RefGenome

melanocyte differentiation

Inferred from Biological aspect of Ancestor. Source: RefGenome

negative regulation of transcription from RNA polymerase II promoter

Inferred from Biological aspect of Ancestor. Source: RefGenome

neural crest cell migration

Inferred from Biological aspect of Ancestor. Source: RefGenome

pattern specification process

Inferred from Biological aspect of Ancestor. Source: RefGenome

peripheral nervous system development

Inferred from Biological aspect of Ancestor. Source: RefGenome

positive regulation of transcription from RNA polymerase II promoter

Inferred from Biological aspect of Ancestor. Source: RefGenome

regulation of sequence-specific DNA binding transcription factor activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

sympathetic nervous system development

Inferred from Biological aspect of Ancestor. Source: RefGenome

transcription from RNA polymerase II promoter

Inferred from Biological aspect of Ancestor. Source: GOC

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

transcription factor complex

Inferred from Biological aspect of Ancestor. Source: RefGenome

   Molecular_functionDNA binding, bending

Inferred from sequence or structural similarity Ref.4. Source: UniProtKB

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

double-stranded DNA binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

sequence-specific DNA binding

Inferred from sequence or structural similarity Ref.4. Source: UniProtKB

sequence-specific DNA binding transcription factor activity

Traceable author statement PubMed 9325056. Source: UniProtKB

transcription factor binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 439439Forkhead box protein D4
PRO_0000091821

Regions

DNA binding104 – 19895Fork-head
Compositional bias205 – 29793Pro-rich

Natural variations

Natural variant1341I → F.
Corresponds to variant rs10959293 [ dbSNP | Ensembl ].
VAR_028177
Natural variant1361D → G. Ref.1
Corresponds to variant rs2492216 [ dbSNP | Ensembl ].
VAR_028178
Natural variant1521I → V. Ref.1
Corresponds to variant rs7031810 [ dbSNP | Ensembl ].
VAR_028179

Sequences

Sequence LengthMass (Da)Tools
Q12950 [UniParc].

Last modified November 2, 2010. Version 4.
Checksum: 0CAB30E9283535A2

FASTA43947,309
        10         20         30         40         50         60 
MNLPRAERLR STPQRSLRDS DGEDGKIDVL GEEEDEDEEE AASQQFLEQS LQPGLQVARW 

        70         80         90        100        110        120 
GGVALPREHI EGGGGPSDPS EFGTEFRAPP RSAAASEDAR QPAKPPSSYI ALITMAILQS 

       130        140        150        160        170        180 
PHKRLTLSGI CAFISDRFPY YRRKFPAWQN SIRHNLSLND CFVKIPREPG RPGKGNYWSL 

       190        200        210        220        230        240 
DPASQDMFDN GSFLRRRKRF QRHQPTPGAH LPHPFPLPAA HAALHNPRPG PLLGAPAPPQ 

       250        260        270        280        290        300 
PVPGAYPNTG PGRRPYALLH PHPPRYLLLS APAYAGAPKK AEGADLATPA PFPCCSPHLV 

       310        320        330        340        350        360 
LSLGRRARVW RRHREADASL SALRVSCKGS GERVQGLRRV CPRPRGATAP CSSDRQACRT 

       370        380        390        400        410        420 
ILQQQQRHQE EDCANGCAPT KGAVLGGHLS AASALLRYQA VAEGSGLTSL AAPLGGEGTS 

       430 
PVFLVSPTPS SLAESAGPS 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRS51628.
RefSeqNP_997188.2. NM_207305.4.
UniGeneHs.584759.

3D structure databases

ProteinModelPortalQ12950.
SMRQ12950. Positions 104-199.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000371940.

Polymorphism databases

DMDM311033480.

Proteomic databases

PaxDbQ12950.
PRIDEQ12950.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000382500; ENSP00000371940; ENSG00000170122.
GeneID2298.
KEGGhsa:2298.
UCSCuc003zfz.4. human.

Organism-specific databases

CTD2298.
GeneCardsGC09M000116.
HGNCHGNC:3805. FOXD4.
HPAHPA012836.
MIM601092. gene.
neXtProtNX_Q12950.
PharmGKBPA28222.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5025.
HOVERGENHBG051641.
InParanoidQ12950.
KOK09397.
OMAPRDDSEF.
OrthoDBEOG7C8GHD.
PhylomeDBQ12950.
TreeFamTF316127.

Gene expression databases

BgeeQ12950.
CleanExHS_FOXD4.
GenevestigatorQ12950.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
InterProIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSPR00053. FORKHEAD.
SMARTSM00339. FH. 1 hit.
[Graphical view]
PROSITEPS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFOXD4.
GenomeRNAi2298.
NextBio9327.
PROQ12950.
SOURCESearch...

Entry information

Entry nameFOXD4_HUMAN
AccessionPrimary (citable) accession number: Q12950
Secondary accession number(s): B2RN05 expand/collapse secondary AC list , B9EGL7, Q5VVK1, Q8WXT6
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 2, 2010
Last modified: April 16, 2014
This is version 119 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM