Q12952 (FOXL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	345 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	brain development Inferred from Biological aspect of Ancestor. Source: RefGenome camera-type eye development Inferred from Biological aspect of Ancestor. Source: RefGenome cartilage development Inferred from Biological aspect of Ancestor. Source: RefGenome embryo development Inferred from Biological aspect of Ancestor. Source: RefGenome forelimb morphogenesis Inferred from Biological aspect of Ancestor. Source: RefGenome heart development Inferred from mutant phenotype PubMed 21457232. Source: DFLAT 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 receptor signaling pathway Inferred from sequence or structural similarity. Source: UniProtKB regulation of sequence-specific DNA binding transcription factor activity Inferred from Biological aspect of Ancestor. Source: RefGenome visceral mesoderm-endoderm interaction involved in midgut development Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	transcription factor complex Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular_function	DNA binding, bending Non-traceable author statement Ref.4. Source: UniProtKB RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Inferred from Biological aspect of Ancestor. Source: RefGenome double-stranded DNA binding Inferred from Biological aspect of Ancestor. Source: RefGenome sequence-specific DNA binding Inferred from direct assay Ref.4. Source: UniProtKB transcription factor binding Inferred from Biological aspect of Ancestor. Source: RefGenome
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 345	345	Forkhead box protein L1		PRO_0000091859
Regions
	DNA binding	48 – 139	92	Fork-head

Sequences

	Sequence		Length	Mass (Da)
	Q12952 [UniParc]. Last modified April 27, 2001. Version 2. Checksum: 015D86B57DF3BBC6	FASTA	345	36,490
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00030343.
PIR	S51630.
RefSeq	NP_005241.1. NM_005250.2.
UniGene	Hs.533830.
3D structure databases
ProteinModelPortal	Q12952.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000326272.
Polymorphism databases
DMDM	13638268.
Proteomic databases
PaxDb	Q12952.
PRIDE	Q12952.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000320241; ENSP00000326272; ENSG00000176678.
GeneID	2300.
KEGG	hsa:2300.
UCSC	uc002fjr.3. human.
Organism-specific databases
CTD	2300.
GeneCards	GC16P086612.
HGNC	HGNC:3817. FOXL1.
MIM	603252. gene.
neXtProt	NX_Q12952.
PharmGKB	PA28234.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5025.
HOGENOM	HOG000112632.
HOVERGEN	HBG051650.
InParanoid	Q12952.
KO	K09405.
OMA	PFLSYFP.
OrthoDB	EOG4MCX19.
PhylomeDB	Q12952.
Gene expression databases
Bgee	Q12952.
CleanEx	HS_FOXL1.
Genevestigator	Q12952.
GermOnline	ENSG00000176678. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.10. 1 hit.
InterPro	IPR001766. TF_fork_head. IPR018122. TF_fork_head_CS. IPR011991. WHTH_DNA-bd_dom. [Graphical view]
Pfam	PF00250. Fork_head. 1 hit. [Graphical view]
PRINTS	PR00053. FORKHEAD.
SMART	SM00339. FH. 1 hit. [Graphical view]
PROSITE	PS00657. FORK_HEAD_1. 1 hit. PS00658. FORK_HEAD_2. 1 hit. PS50039. FORK_HEAD_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	2300.
NextBio	9337.
SOURCE	Search...

Entry information

Entry name

FOXL1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 108 of the entry and version 2 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.