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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: 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. sequence-specific DNA binding Source: InterPro
  3. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: GO_Central
  4. 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. regulation of transcription from RNA polymerase II promoter Source: GO_Central
  11. soft palate development Source: UniProtKB
  12. thymus development Source: UniProtKB
  13. thyroid gland development Source: UniProtKB
  14. thyroid hormone generation Source: UniProtKB
  15. 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 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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
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 syndrome2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disease characterized by thyroid agenesis, cleft palate and choanal atresia.

See also OMIM:241850
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.Several conflicts.Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

STRINGi9606.ENSP00000364265.

PTM databases

PhosphoSiteiO00358.

Proteomic databases

PaxDbiO00358.
PRIDEiO00358.

Protocols and materials databases

DNASUi2304.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2304.
GeneCardsiGC09P100615.
H-InvDBHIX0034929.
HGNCiHGNC:3806. FOXE1.
MIMi241850. phenotype.
602617. gene.
neXtProtiNX_O00358.
Orphaneti95713. Athyreosis.
1226. Bamforth-Lazarus syndrome.
146. Papillary or follicular thyroid carcinoma.
95720. Thyroid hypoplasia.
PharmGKBiPA28223.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5025.
GeneTreeiENSGT00760000118904.
HOGENOMiHOG000231286.
HOVERGENiHBG051642.
InParanoidiO00358.
KOiK09398.
OMAiMTAESGP.
OrthoDBiEOG7C8GHD.
PhylomeDBiO00358.
TreeFamiTF316127.

Miscellaneous databases

GeneWikiiFOXE1.
GenomeRNAii2304.
NextBioi9355.
PROiO00358.
SOURCEiSearch...

Gene expression databases

BgeeiO00358.
CleanExiHS_FOXE1.
HS_TTF2.
GenevestigatoriO00358.

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]
ProtoNetiSearch...

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.
+Additional computationally mapped references.

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: February 4, 2015
This is version 140 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.