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Q99581 (FEV_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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:
Protein FEV
Alternative name(s):
Fifth Ewing variant protein
PC12 ETS domain-containing transcription factor 1
Short name=PC12 ETS factor 1
Short name=Pet-1
Gene names
Name:FEV
Synonyms:PET1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length238 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Functions as a transcriptional regulator. According to Ref.5, it functions as a transcriptional repressor. Functions in the differentiation and the maintenance of the central serotonergic neurons. May play a role in cell growth. Ref.5

Subcellular location

Nucleus Ref.5.

Tissue specificity

In brain, exclusively expressed in the major serotonergic neurons of the dorsal and median raphe nuclei located in the midbrain and pons. Also detected in prostate and small intestine. Ref.1 Ref.6 Ref.7

Involvement in disease

Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive.
Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry. Ref.9

A chromosomal aberration involving FEV is found in Ewing tumors. Translocation t(2;21;22)(q23;q22;q12) that forms a EWSR1-FEV fusion protein with a potential oncogenic activity.

Sequence similarities

Belongs to the ETS family.

Contains 1 ETS DNA-binding domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 238238Protein FEV
PRO_0000344204

Regions

DNA binding47 – 12781ETS
Region129 – 238110May mediate active transcriptional repression
Compositional bias132 – 21079Ala-rich

Sites

Site18 – 192Breakpoint for insertion to form EWS-FEV fusion protein

Secondary structure

.................... 238
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q99581 [UniParc].

Last modified May 1, 1997. Version 1.
Checksum: 057E4A76FBDD6E0A

FASTA23825,030
        10         20         30         40         50         60 
MRQSGASQPL LINMYLPDPV GDGLFKDGKN PSWGPLSPAV QKGSGQIQLW QFLLELLADR 

        70         80         90        100        110        120 
ANAGCIAWEG GHGEFKLTDP DEVARRWGER KSKPNMNYDK LSRALRYYYD KNIMSKVHGK 

       130        140        150        160        170        180 
RYAYRFDFQG LAQACQPPPA HAHAAAAAAA AAAAAQDGAL YKLPAGLAPL PFPGLSKLNL 

       190        200        210        220        230 
MAASAGVAPA GFSYWPGPGP AATAAAATAA LYPSPSLQPP PGPFGAVAAA SHLGGHYH 

« Hide

References

« Hide 'large scale' references
[1]"A new member of the ETS family fused to EWS in Ewing tumors."
Peter M., Couturier J., Pacquement H., Michon J., Thomas G., Magdelenat H., Delattre O.
Oncogene 14:1159-1164(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHROMOSOMAL TRANSLOCATION WITH EWSR1, TISSUE SPECIFICITY.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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: Brain.
[5]"FEV acts as a transcriptional repressor through its DNA-binding ETS domain and alanine-rich domain."
Maurer P., T'Sas F., Coutte L., Callens N., Brenner C., Van Lint C., de Launoit Y., Baert J.-L.
Oncogene 22:3319-3329(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[6]"The Ets transcription factor Fev is specifically expressed in the human central serotonergic neurons."
Maurer P., Rorive S., de Kerchove d'Exaerde A., Schiffmann S.N., Salmon I., de Launoit Y.
Neurosci. Lett. 357:215-218(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[7]"Regional distribution and cellular localization of the ETS-domain transcription factor, FEV, mRNA in the human postmortem brain."
Iyo A.H., Porter B., Deneris E.S., Austin M.C.
Synapse 57:223-228(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[8]"Expression of EWS-ETS fusions in NIH3T3 cells reveals significant differences to Ewing's sarcoma."
Braunreiter C.L., Hancock J.D., Coffin C.M., Boucher K.M., Lessnick S.L.
Cell Cycle 5:2753-2759(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF THE EWSR1-FEV FUSION PROTEIN.
[9]"Sudden infant death syndrome: rare mutation in the serotonin system FEV gene."
Rand C.M., Berry-Kravis E.M., Zhou L., Fan W., Weese-Mayer D.E.
Pediatr. Res. 62:180-182(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SIDS.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Y08976 mRNA. Translation: CAA70169.1.
AC097468 Genomic DNA. Translation: AAX88917.1.
CH471063 Genomic DNA. Translation: EAW70664.1.
BC023511 mRNA. Translation: AAH23511.1.
RefSeqNP_059991.1. NM_017521.2.
UniGeneHs.234759.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2YPRX-ray2.64A/B42-141[»]
3ZP5X-ray2.00A42-141[»]
ProteinModelPortalQ99581.
SMRQ99581. Positions 44-135.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000295727.

PTM databases

PhosphoSiteQ99581.

Polymorphism databases

DMDM74762701.

Proteomic databases

PaxDbQ99581.
PRIDEQ99581.

Protocols and materials databases

DNASU54738.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295727; ENSP00000295727; ENSG00000163497.
GeneID54738.
KEGGhsa:54738.
UCSCuc002vji.1. human.

Organism-specific databases

CTD54738.
GeneCardsGC02M219845.
HGNCHGNC:18562. FEV.
MIM272120. phenotype.
607150. gene.
neXtProtNX_Q99581.
PharmGKBPA134875093.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG287001.
HOGENOMHOG000234879.
HOVERGENHBG095796.
InParanoidQ99581.
KOK09437.
OMALMFNMYL.
OrthoDBEOG73V6K8.
PhylomeDBQ99581.
TreeFamTF316214.

Gene expression databases

BgeeQ99581.
CleanExHS_FEV.
GenevestigatorQ99581.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
InterProIPR000418. Ets_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00178. Ets. 1 hit.
[Graphical view]
PRINTSPR00454. ETSDOMAIN.
SMARTSM00413. ETS. 1 hit.
[Graphical view]
PROSITEPS00345. ETS_DOMAIN_1. 1 hit.
PS00346. ETS_DOMAIN_2. 1 hit.
PS50061. ETS_DOMAIN_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi54738.
NextBio57329.
PROQ99581.
SOURCESearch...

Entry information

Entry nameFEV_HUMAN
AccessionPrimary (citable) accession number: Q99581
Entry history
Integrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: May 1, 1997
Last modified: February 19, 2014
This is version 124 of the entry and version 1 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

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

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM