Q99581 (FEV_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	238 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Genetic variation in FEV may be associated with susceptibility to sudden infant death syndrome (SIDS) [MIM:272120]. SIDS remains elusive in its causes and devastating in its consequences. Despite the impressive decline in the incidence of SIDS since the recommendation to avoid the prone sleep position, SIDS remains a leading cause of death in the first year of life. Ref.9 Note=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.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Chromosomal rearrangement
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW nervous system development Inferred from electronic annotation. Source: UniProtKB-KW transcription from RNA polymerase II promoter Traceable author statement. Source: ProtInc
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Traceable author statement. Source: ProtInc transcription corepressor activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 238	238	Protein FEV		PRO_0000344204
Regions
	DNA binding	47 – 127	81	ETS
	Region	129 – 238	110	May mediate active transcriptional repression
	Compositional bias	132 – 210	79	Ala-rich
Sites
	Site	18 – 19	2	Breakpoint for insertion to form EWS-FEV fusion protein

Sequences

	Sequence		Length	Mass (Da)
	Q99581 [UniParc]. Last modified May 1, 1997. Version 1. Checksum: 057E4A76FBDD6E0A	FASTA	238	25,030
	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

References

	« Hide 'large scale' referencesShow '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: 9121764] [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. , 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: 15815621] [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. , 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: 15489334] [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: 12761502] [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: 15003288] [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: 15986391] [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: 17172842] [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: 17597646] [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.
IPI	IPI00013984.
RefSeq	NP_059991.1. NM_017521.2.
UniGene	Hs.234759.
3D structure databases
HSSP	HSSP built from PDB template 1FLI based on UniProtKB Q01543.
ProteinModelPortal	Q99581.
SMR	Q99581. Positions 43-139.
ModBase	Search...
Protein-protein interaction databases
STRING	Q99581.
Polymorphism databases
DMDM	74762701.
Proteomic databases
PRIDE	Q99581.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000295727; ENSP00000295727; ENSG00000163497.
GeneID	54738.
KEGG	hsa:54738.
UCSC	uc002vji.1. human.
Organism-specific databases
CTD	54738.
GeneCards	GC02M219845.
HGNC	HGNC:18562. FEV.
MIM	272120. phenotype. 607150. gene.
neXtProt	NX_Q99581.
PharmGKB	PA134875093.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19055.
GeneTree	ENSGT00600000084192.
HOGENOM	HBG447049.
HOVERGEN	HBG095796.
InParanoid	Q99581.
OMA	LMFNMYL.
OrthoDB	EOG4J3WJC.
PhylomeDB	Q99581.
Gene expression databases
ArrayExpress	Q99581.
Bgee	Q99581.
CleanEx	HS_FEV.
Genevestigator	Q99581.
Family and domain databases
InterPro	IPR000418. Ets. IPR011991. WHTH_trsnscrt_rep_DNA-bd. [Graphical view]
Gene3D	G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 1 hit.
KO	K09437.
Pfam	PF00178. Ets. 1 hit. [Graphical view]
PRINTS	PR00454. ETSDOMAIN.
SMART	SM00413. ETS. 1 hit. [Graphical view]
PROSITE	PS00345. ETS_DOMAIN_1. 1 hit. PS00346. ETS_DOMAIN_2. 1 hit. PS50061. ETS_DOMAIN_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	57329.
SOURCE	Search...

Entry information

Entry name

FEV_HUMAN

Accession

Primary (citable) accession number: Q99581

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 22, 2008
Last sequence update:	May 1, 1997
Last modified:	January 25, 2012
This is version 106 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.