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Q13461

- FOXE3_HUMAN

UniProt

Q13461 - FOXE3_HUMAN

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Protein
Forkhead box protein E3
Gene
FOXE3, FKHL12, FREAC8
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 bindingi70 – 16192Fork-head
Add
BLAST

GO - Molecular functioni

  1. DNA binding, bending Source: RefGenome
  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: InterPro
  5. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  6. transcription factor binding Source: RefGenome
Complete GO annotation...

GO - Biological processi

  1. cell development Source: Ensembl
  2. embryonic organ morphogenesis Source: RefGenome
  3. hair follicle morphogenesis Source: RefGenome
  4. hard palate development Source: RefGenome
  5. lens morphogenesis in camera-type eye Source: RefGenome
  6. negative regulation of transcription from RNA polymerase II promoter Source: RefGenome
  7. pattern specification process Source: RefGenome
  8. positive regulation of epithelial cell proliferation Source: Ensembl
  9. regulation of sequence-specific DNA binding transcription factor activity Source: RefGenome
  10. soft palate development Source: RefGenome
  11. thyroid gland development Source: RefGenome
  12. thyroid hormone generation Source: RefGenome
  13. transcription from RNA polymerase II promoter Source: MGI
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Forkhead box protein E3
Alternative name(s):
Forkhead-related protein FKHL12
Forkhead-related transcription factor 8
Short name:
FREAC-8
Gene namesi
Name:FOXE3
Synonyms:FKHL12, FREAC8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:3808. FOXE3.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]: A range of developmental defects in structures at the front of the eye, resulting from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Different mature anterior segment anomalies may exist alone or in combination, and are associated with an increased risk of glaucoma and corneal opacity. Conditions falling within the phenotypic spectrum of anterior segment anomalies include aniridia, posterior embryotoxon, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti90 – 901R → L in ASMD; a patient with Peters anomaly. 1 Publication
VAR_062584
Congenital primary aphakia (CPA) [MIM:610256]: Aphakia is a rare congenital eye disorder in which the lens is missing. It has been histologically subdivided into primary and secondary forms, in accordance with the severity of defects of the ocular tissues, whose development requires the initial presence of a lens. CPA results from an early developmental arrest, around the 4th-5th week of gestation in humans, that prevents the formation of any lens structure and leads to severe secondary ocular defects, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less-severe ocular defects.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Peters anomaly

Organism-specific databases

MIMi107250. phenotype.
610256. phenotype.
Orphaneti83461. Congenital primary aphakia.
88632. Familial ocular anterior segment mesenchymal dysgenesis.
PharmGKBiPA28225.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 319319Forkhead box protein E3
PRO_0000091829Add
BLAST

Proteomic databases

PRIDEiQ13461.

PTM databases

PhosphoSiteiQ13461.

Expressioni

Developmental stagei

Expressed in the lens during embryonic development. Predominantly expressed in the anterior lens epithelium but with some expression posteriorly. Not expressed in brain in embryos.1 Publication

Gene expression databases

BgeeiQ13461.
CleanExiHS_FOXE3.
GenevestigatoriQ13461.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000334472.

Structurei

3D structure databases

ProteinModelPortaliQ13461.
SMRiQ13461. Positions 71-166.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi61 – 655Poly-Arg
Compositional biasi174 – 1796Poly-Ala
Compositional biasi245 – 2495Poly-Ala
Compositional biasi254 – 2574Poly-Ala

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG5025.
HOGENOMiHOG000231286.
HOVERGENiHBG051642.
InParanoidiQ13461.
KOiK09398.
OMAiYRDNPRK.
OrthoDBiEOG7KWSK8.
PhylomeDBiQ13461.
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]
PROSITEiPS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q13461-1 [UniParc]FASTAAdd to Basket

« Hide

MAGRSDMDPP AAFSGFPALP AVAPSGPPPS PLAGAEPGRE PEEAAAGRGE    50
AAPTPAPGPG RRRRRPLQRG KPPYSYIALI AMALAHAPGR RLTLAAIYRF 100
ITERFAFYRD SPRKWQNSIR HNLTLNDCFV KVPREPGNPG KGNYWTLDPA 150
AADMFDNGSF LRRRKRFKRA ELPAHAAAAP GPPLPFPYAP YAPAPGPALL 200
VPPPSAGPGP SPPARLFSVD SLVNLQPELA GLGAPEPPCC AAPDAAAAAF 250
PPCAAAASPP LYSQVPDRLV LPATRPGPGP LPAEPLLALA GPAAALGPLS 300
PGEAYLRQPG FASGLERYL 319
Length:319
Mass (Da):33,234
Last modified:January 11, 2001 - v2
Checksum:iE25A64457B7ECDF8
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491G → A in a family with eye development anomalies. 1 Publication
VAR_062582
Natural varianti82 – 821M → V in a family with eye development anomalies. 1 Publication
VAR_062583
Natural varianti90 – 901R → L in ASMD; a patient with Peters anomaly. 1 Publication
VAR_062584
Natural varianti196 – 1961G → A.1 Publication
VAR_026234
Natural varianti300 – 3001S → G.1 Publication
VAR_026235

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti162 – 1621R → P in AAB48856. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF275722 mRNA. Translation: AAF82793.1.
AL607122 Genomic DNA. Translation: CAI14973.1.
U42990 Genomic DNA. Translation: AAB48856.1.
CCDSiCCDS550.1.
PIRiG02311.
RefSeqiNP_036318.1. NM_012186.2.
UniGeneiHs.112968.

Genome annotation databases

EnsembliENST00000335071; ENSP00000334472; ENSG00000186790.
GeneIDi2301.
KEGGihsa:2301.
UCSCiuc001crk.3. human.

Polymorphism databases

DMDMi12644406.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF275722 mRNA. Translation: AAF82793.1 .
AL607122 Genomic DNA. Translation: CAI14973.1 .
U42990 Genomic DNA. Translation: AAB48856.1 .
CCDSi CCDS550.1.
PIRi G02311.
RefSeqi NP_036318.1. NM_012186.2.
UniGenei Hs.112968.

3D structure databases

ProteinModelPortali Q13461.
SMRi Q13461. Positions 71-166.
ModBasei Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000334472.

PTM databases

PhosphoSitei Q13461.

Polymorphism databases

DMDMi 12644406.

Proteomic databases

PRIDEi Q13461.

Protocols and materials databases

DNASUi 2301.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000335071 ; ENSP00000334472 ; ENSG00000186790 .
GeneIDi 2301.
KEGGi hsa:2301.
UCSCi uc001crk.3. human.

Organism-specific databases

CTDi 2301.
GeneCardsi GC01P047881.
HGNCi HGNC:3808. FOXE3.
MIMi 107250. phenotype.
601094. gene.
610256. phenotype.
neXtProti NX_Q13461.
Orphaneti 83461. Congenital primary aphakia.
88632. Familial ocular anterior segment mesenchymal dysgenesis.
PharmGKBi PA28225.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5025.
HOGENOMi HOG000231286.
HOVERGENi HBG051642.
InParanoidi Q13461.
KOi K09398.
OMAi YRDNPRK.
OrthoDBi EOG7KWSK8.
PhylomeDBi Q13461.
TreeFami TF316127.

Miscellaneous databases

GeneWikii FOXE3.
GenomeRNAii 2301.
NextBioi 9341.
PROi Q13461.
SOURCEi Search...

Gene expression databases

Bgeei Q13461.
CleanExi HS_FOXE3.
Genevestigatori Q13461.

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 PS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Forkhead transcription factor FOXE3 is expressed in lens epithelium."
    Carlsson P.
    Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts."
    Semina E.V., Brownell I., Mintz-Hittner H.A., Murray J.C., Jamrich M.
    Hum. Mol. Genet. 10:231-236(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ALA-196 AND GLY-300, INVOLVEMENT IN ASMD.
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)."
    Larsson C., Hellqvist M., Pierrou S., White I., Enerbaeck S., Carlsson P.
    Genomics 30:464-469(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 66-171.
  5. "Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans."
    Valleix S., Niel F., Nedelec B., Algros M.-P., Schwartz C., Delbosc B., Delpech M., Kantelip B.
    Am. J. Hum. Genet. 79:358-364(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CPA.
  6. "Foxe3 haploinsufficiency in mice: a model for Peters' anomaly."
    Ormestad M., Blixt A., Churchill A., Martinsson T., Enerback S., Carlsson P.
    Invest. Ophthalmol. Vis. Sci. 43:1350-1357(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASMD LEU-90.
  7. Cited for: VARIANTS ALA-49 AND VAL-82, DEVELOPMENTAL STAGE.

Entry informationi

Entry nameiFOXE3_HUMAN
AccessioniPrimary (citable) accession number: Q13461
Secondary accession number(s): Q5SVY9, Q9NQV9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 11, 2001
Last modified: July 9, 2014
This is version 123 of the entry and version 2 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 1
    Human chromosome 1: 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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