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Q12952 (FOXL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | 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:
Forkhead box protein L1
Alternative name(s):
Forkhead-related protein FKHL11
Forkhead-related transcription factor 7
Short name=FREAC-7
Gene names
Name:FOXL1
Synonyms:FKHL11, FREAC7
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length345 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Target gene of the hedgehog (Hh) signaling pathway via GLI2 AND GLI3 transcription factors By similarity.

Subcellular location

Nucleus.

Sequence similarities

Contains 1 fork-head DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processPeyer's patch morphogenesis

Inferred from electronic annotation. Source: Ensembl

brain development

Inferred from Biological aspect of Ancestor. Source: RefGenome

camera-type eye development

Inferred from Biological aspect of Ancestor. Source: RefGenome

heart development

Inferred from mutant phenotype PubMed 21457232. Source: DFLAT

multicellular organismal development

Non-traceable author statement Ref.1. Source: UniProtKB

organ morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

pattern specification process

Inferred from Biological aspect of Ancestor. Source: RefGenome

proteoglycan biosynthetic process

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of Wnt signaling pathway

Inferred from sequence or structural similarity. Source: UniProtKB

tissue development

Inferred from Biological aspect of Ancestor. Source: RefGenome

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

visceral mesoderm-endoderm interaction involved in midgut development

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentnucleus

Inferred by curator Ref.4. Source: UniProtKB

   Molecular_functionDNA binding

Inferred from direct assay Ref.4. Source: MGI

DNA binding, bending

Non-traceable author statement Ref.4. Source: UniProtKB

sequence-specific DNA binding

Inferred from direct assay Ref.4. Source: UniProtKB

sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 345345Forkhead box protein L1
PRO_0000091859

Regions

DNA binding48 – 13992Fork-head

Sequences

Sequence LengthMass (Da)Tools
Q12952 [UniParc].

Last modified April 27, 2001. Version 2.
Checksum: 015D86B57DF3BBC6

FASTA34536,490
        10         20         30         40         50         60 
MSHLFDPRLP ALAASPMLYL YGPERPGLPL AFAPAAALAA SGRAETPQKP PYSYIALIAM 

        70         80         90        100        110        120 
AIQDAPEQRV TLNGIYQFIM DRFPFYHDNR QGWQNSIRHN LSLNDCFVKV PREKGRPGKG 

       130        140        150        160        170        180 
SYWTLDPRCL DMFENGNYRR RKRKPKPGPG APEAKRPRAE THQRSAEAQP EAGSGAGGSG 

       190        200        210        220        230        240 
PAISRLQAAP AGPSPLLDGP SPPAPLHWPG TASPNEDAGD AAQGAAAVAV GQAARTGDGP 

       250        260        270        280        290        300 
GSPLRPASRS SPKSSDKSKS FSIDSILAGK QGQKPPSGDE LLGGAKPGPG GRLGASLLAA 

       310        320        330        340 
SSSLRPPFNA SLMLDPHVQG GFYQLGIPFL SYFPLQVPDT VLHFQ 

« Hide

References

« Hide 'large scale' references
[1]"Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome."
Fang J., Dagenais S.L., Erickson R.P., Arlt M.F., Glynn M.W., Gorski J.L., Seaver L.H., Glover T.W.
Am. J. Hum. Genet. 67:1382-1388(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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].
[4]"Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending."
Pierrou S., Hellqvist M., Samuelsson L., Enerbaeck S., Carlsson P.
EMBO J. 13:5002-5012(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 44-149.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF315075 Genomic DNA. Translation: AAG40312.1.
AC009108 Genomic DNA. No translation available.
BC117226 mRNA. Translation: AAI17227.1.
U13225 Genomic DNA. Translation: AAA92042.1.
CCDSCCDS10959.1.
PIRS51630.
RefSeqNP_005241.1. NM_005250.2.
UniGeneHs.533830.

3D structure databases

ProteinModelPortalQ12952.
SMRQ12952. Positions 49-138.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000326272.

Polymorphism databases

DMDM13638268.

Proteomic databases

PaxDbQ12952.
PRIDEQ12952.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320241; ENSP00000326272; ENSG00000176678.
GeneID2300.
KEGGhsa:2300.
UCSCuc002fjr.3. human.

Organism-specific databases

CTD2300.
GeneCardsGC16P086612.
HGNCHGNC:3817. FOXL1.
MIM603252. gene.
neXtProtNX_Q12952.
PharmGKBPA28234.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5025.
HOGENOMHOG000112632.
HOVERGENHBG051650.
InParanoidQ12952.
KOK09405.
OMAPFLSYFP.
PhylomeDBQ12952.
TreeFamTF316127.

Enzyme and pathway databases

SignaLinkQ12952.

Gene expression databases

ArrayExpressQ12952.
BgeeQ12952.
CleanExHS_FOXL1.
GenevestigatorQ12952.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
InterProIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSPR00053. FORKHEAD.
SMARTSM00339. FH. 1 hit.
[Graphical view]
PROSITEPS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi2300.
NextBio9337.
PROQ12952.
SOURCESearch...

Entry information

Entry nameFOXL1_HUMAN
AccessionPrimary (citable) accession number: Q12952
Secondary accession number(s): Q17RR1, Q9H242
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 27, 2001
Last modified: July 9, 2014
This is version 117 of the entry and version 2 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

MIM cross-references

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

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM