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O00358

- FOXE1_HUMAN

UniProt

O00358 - FOXE1_HUMAN

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Protein

Forkhead box protein E1

Gene

FOXE1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Probable transcription factor. Could be involved in thyroid gland organogenesis.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi53 – 14795Fork-headPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. double-stranded DNA binding Source: Ensembl
  3. sequence-specific DNA binding Source: Ensembl
  4. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: Ensembl
  5. sequence-specific DNA binding transcription factor activity Source: UniProtKB

GO - Biological processi

  1. anatomical structure morphogenesis Source: UniProtKB
  2. cell migration Source: UniProtKB
  3. embryonic organ morphogenesis Source: UniProtKB
  4. hair follicle morphogenesis Source: UniProtKB
  5. hard palate development Source: UniProtKB
  6. negative regulation of transcription, DNA-templated Source: UniProtKB
  7. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  8. pharynx development Source: UniProtKB
  9. positive regulation of transcription, DNA-templated Source: UniProtKB
  10. soft palate development Source: UniProtKB
  11. thymus development Source: UniProtKB
  12. thyroid gland development Source: UniProtKB
  13. thyroid hormone generation Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Forkhead box protein E1
Alternative name(s):
Forkhead box protein E2
Forkhead-related protein FKHL15
HFKH4
HNF-3/fork head-like protein 5
Short name:
HFKL5
Thyroid transcription factor 2
Short name:
TTF-2
Gene namesi
Name:FOXE1
Synonyms:FKHL15, FOXE2, TITF2, TTF2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:3806. FOXE1.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Bamforth-Lazarus syndrome (BLS) [MIM:241850]: A disease characterized by thyroid agenesis, cleft palate and choanal atresia.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti57 – 571S → N in BLS; without choanal atresia. 1 Publication
Corresponds to variant rs28937575 [ dbSNP | Ensembl ].
VAR_016882
Natural varianti65 – 651A → V in BLS. 1 Publication
VAR_008857

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi241850. phenotype.
Orphaneti95713. Athyreosis.
1226. Bamforth-Lazarus syndrome.
146. Papillary or follicular thyroid carcinoma.
95720. Thyroid hypoplasia.
PharmGKBiPA28223.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 373373Forkhead box protein E1PRO_0000091826Add
BLAST

Post-translational modificationi

Phosphorylated.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO00358.
PRIDEiO00358.

PTM databases

PhosphoSiteiO00358.

Expressioni

Tissue specificityi

Detected in adult brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, heart, colon, small intestine testis and thymus. Expression was strongest in heart and pancreas.

Gene expression databases

BgeeiO00358.
CleanExiHS_FOXE1.
HS_TTF2.
GenevestigatoriO00358.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000364265.

Structurei

3D structure databases

ProteinModelPortaliO00358.
SMRiO00358. Positions 53-148.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi164 – 309146Ala-richAdd
BLAST
Compositional biasi164 – 17714Poly-AlaAdd
BLAST
Compositional biasi180 – 24162Pro-richAdd
BLAST

Sequence similaritiesi

Contains 1 fork-head DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG5025.
GeneTreeiENSGT00760000118904.
HOGENOMiHOG000231286.
HOVERGENiHBG051642.
InParanoidiO00358.
KOiK09398.
OMAiMTAESGP.
OrthoDBiEOG7C8GHD.
PhylomeDBiO00358.
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.

O00358-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MTAESGPPPP QPEVLATVKE ERGETAAGAG VPGEATGRGA GGRRRKRPLQ
60 70 80 90 100
RGKPPYSYIA LIAMAIAHAP ERRLTLGGIY KFITERFPFY RDNPKKWQNS
110 120 130 140 150
IRHNLTLNDC FLKIPREAGR PGKGNYWALD PNAEDMFESG SFLRRRKRFK
160 170 180 190 200
RSDLSTYPAY MHDAAAAAAA AAAAAAAAAI FPGAVPAARP PYPGAVYAGY
210 220 230 240 250
APPSLAAPPP VYYPAASPGP CRVFGLVPER PLSPELGPAP SGPGGSCAFA
260 270 280 290 300
SAGAPATTTG YQPAGCTGAR PANPSAYAAA YAGPDGAYPQ GAGSAIFAAA
310 320 330 340 350
GRLAGPASPP AGGSSGGVET TVDFYGRTSP GQFGALGACY NPGGQLGGAS
360 370
AGAYHARHAA AYPGGIDRFV SAM
Length:373
Mass (Da):38,076
Last modified:September 23, 2008 - v3
Checksum:iD201EAF05572FCF0
GO

Sequence cautioni

The sequence CAA64246.1 differs from that shown. Reason: Several conflicts.

Polymorphismi

An alanine stretch that varies from 12 to 19 residues is present. This polymorphisms can be used as a marker to study the role of FOXE1 in other cases of thyroid dysgenesis, especially in familial cases.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti57 – 571S → N in BLS; without choanal atresia. 1 Publication
Corresponds to variant rs28937575 [ dbSNP | Ensembl ].
VAR_016882
Natural varianti65 – 651A → V in BLS. 1 Publication
VAR_008857
Natural varianti102 – 1021R → C in congenital hypothyroidism; with absence of thyroid agenesis; complete loss of DNA binding and transcriptionally inactive. 1 Publication
VAR_027508
Natural varianti179 – 1791A → AAA.
VAR_037643

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X94553 mRNA. Translation: CAA64246.1. Sequence problems.
U89995 mRNA. Translation: AAC51294.1.
Y13386 Genomic DNA. Translation: CAA73816.1.
AL499604 Genomic DNA. Translation: CAI12803.1.
CH471105 Genomic DNA. Translation: EAW58856.1.
CCDSiCCDS35078.1.
RefSeqiNP_004464.2. NM_004473.3.
UniGeneiHs.159234.

Genome annotation databases

EnsembliENST00000375123; ENSP00000364265; ENSG00000178919.
GeneIDi2304.
KEGGihsa:2304.
UCSCiuc004axu.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X94553 mRNA. Translation: CAA64246.1 . Sequence problems.
U89995 mRNA. Translation: AAC51294.1 .
Y13386 Genomic DNA. Translation: CAA73816.1 .
AL499604 Genomic DNA. Translation: CAI12803.1 .
CH471105 Genomic DNA. Translation: EAW58856.1 .
CCDSi CCDS35078.1.
RefSeqi NP_004464.2. NM_004473.3.
UniGenei Hs.159234.

3D structure databases

ProteinModelPortali O00358.
SMRi O00358. Positions 53-148.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000364265.

PTM databases

PhosphoSitei O00358.

Proteomic databases

PaxDbi O00358.
PRIDEi O00358.

Protocols and materials databases

DNASUi 2304.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000375123 ; ENSP00000364265 ; ENSG00000178919 .
GeneIDi 2304.
KEGGi hsa:2304.
UCSCi uc004axu.3. human.

Organism-specific databases

CTDi 2304.
GeneCardsi GC09P100615.
H-InvDB HIX0034929.
HGNCi HGNC:3806. FOXE1.
MIMi 241850. phenotype.
602617. gene.
neXtProti NX_O00358.
Orphaneti 95713. Athyreosis.
1226. Bamforth-Lazarus syndrome.
146. Papillary or follicular thyroid carcinoma.
95720. Thyroid hypoplasia.
PharmGKBi PA28223.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5025.
GeneTreei ENSGT00760000118904.
HOGENOMi HOG000231286.
HOVERGENi HBG051642.
InParanoidi O00358.
KOi K09398.
OMAi MTAESGP.
OrthoDBi EOG7C8GHD.
PhylomeDBi O00358.
TreeFami TF316127.

Miscellaneous databases

GeneWikii FOXE1.
GenomeRNAii 2304.
NextBioi 9355.
PROi O00358.
SOURCEi Search...

Gene expression databases

Bgeei O00358.
CleanExi HS_FOXE1.
HS_TTF2.
Genevestigatori O00358.

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. "The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern."
    Wiese S., Emmerich D., Schroeder B., Murphy D.B., Grzeschik K.H., Van Kessel A.G., Thies U.
    DNA Cell Biol. 16:165-171(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: PRELIMINARY NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Fetal brain.
  2. "FKHL15, a new human member of the forkhead gene family located on chromosome 9q22."
    Chadwick B.P., Obermayr F., Frischauf A.-M.
    Genomics 41:390-396(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], POLYMORPHISM OF POLY-ALA REGION.
    Tissue: Keratinocyte.
  3. "Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2)."
    Macchia P.E., Mattei M.-G., Lapi P., Fenzi G., Di Lauro R.
    Biochimie 81:433-440(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], POLYMORPHISM.
  4. "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].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia."
    Clifton-Bligh R.J., Wentworth J.M., Heinz P., Crisp M.S., John R., Lazarus J.H., Ludgate M., Chatterjee V.K.
    Nat. Genet. 19:399-401(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BLS VAL-65.
  7. "A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate."
    Castanet M., Park S.M., Smith A., Bost M., Leger J., Lyonnet S., Pelet A., Czernichow P., Chatterjee K., Polak M.
    Hum. Mol. Genet. 11:2051-2059(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BLS ASN-57.
  8. "A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis."
    Baris I., Arisoy A.E., Smith A., Agostini M., Mitchell C.S., Park S.M., Halefoglu A.M., Zengin E., Chatterjee V.K., Battaloglu E.
    J. Clin. Endocrinol. Metab. 91:4183-4187(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CONGENITAL HYPOTHYROIDISM CYS-102, CHARACTERIZATION OF VARIANT CONGENITAL HYPOTHYROIDISM CYS-102.

Entry informationi

Entry nameiFOXE1_HUMAN
AccessioniPrimary (citable) accession number: O00358
Secondary accession number(s): O75765, Q5T109, Q99526
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: September 23, 2008
Last modified: October 29, 2014
This is version 138 of the entry and version 3 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