Q12951 (FOXI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Forkhead box protein I1

Alternative name(s):
Forkhead-related protein FKHL10
Forkhead-related transcription factor 6
Short name=FREAC-6
Hepatocyte nuclear factor 3 forkhead homolog 3
Short name=HFH-3
Short name=HNF-3/fork-head homolog 3

Gene names

Name:	FOXI1
Synonyms:	FKHL10, FREAC6

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	378 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules By similarity.
Subcellular location	Nucleus.
Tissue specificity	Expressed in kidney.
Sequence similarities	Contains 1 fork-head DNA-binding domain.
Sequence caution	The sequence AAB50574.1 differs from that shown. Reason: Erroneous initiation. The sequence AAU12169.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	DNA-binding
Molecular function	Activator
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	epidermal cell fate specification Inferred from Biological aspect of Ancestor. Source: RefGenome otic placode formation Inferred from Biological aspect of Ancestor. Source: RefGenome pattern specification process Inferred from Biological aspect of Ancestor. Source: RefGenome positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 19214237. Source: UniProtKB regulation of sequence-specific DNA binding transcription factor activity Inferred from Biological aspect of Ancestor. Source: RefGenome
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 sequence or structural similarity. Source: UniProtKB transcription factor binding Inferred from Biological aspect of Ancestor. Source: RefGenome transcription regulatory region DNA binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q12951-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q12951-2)

The sequence of this isoform differs from the canonical sequence as follows:
     192-286: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 378	378	Forkhead box protein I1		PRO_0000091846
Regions
	DNA binding	123 – 217	95	Fork-head
	Compositional bias	7 – 97	91	Pro-rich
Natural variations
	Alternative sequence	192 – 286	95	Missing in isoform 2.		VSP_001543
	Natural variant	243	1	P → S. Corresponds to variant rs35678180 [ dbSNP | Ensembl ].		VAR_049160
	Natural variant	362	1	N → S. Corresponds to variant rs3828625 [ dbSNP | Ensembl ].		VAR_049161
Experimental info
	Sequence conflict	2 – 4	3	SSF → NSG in AAB50574. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 26, 2007. Version 3. Checksum: D99835F8A296F11C	FASTA	378	40,973
	10 20 30 40 50 60 MSSFDLPAPS PPRCSPQFPS IGQEPPEMNL YYENFFHPQG VPSPQRPSFE GGGEYGATPN 70 80 90 100 110 120 PYLWFNGPTM TPPPYLPGPN ASPFLPQAYG VQRPLLPSVS GLGGSDLGWL PIPSQEELMK 130 140 150 160 170 180 LVRPPYSYSA LIAMAIHGAP DKRLTLSQIY QYVADNFPFY NKSKAGWQNS IRHNLSLNDC 190 200 210 220 230 240 FKKVPRDEDD PGKGNYWTLD PNCEKMFDNG NFRRKRKRKS DVSSSTASLA LEKTESSLPV 250 260 270 280 290 300 DSPKTTEPQD ILDGASPGGT TSSPEKRPSP PPSGAPCLNS FLSSMTAYVS GGSPTSHPLV 310 320 330 340 350 360 TPGLSPEPSD KTGQNSLTFN SFSPLTNLSN HSGGGDWANP MPTNMLSYGG SVLSQFSPHF 370 YNSVNTSGVL YPREGTEV
	Isoform 2 [UniParc]. Checksum: C0FEE52216219610	FASTA	283	30,814
	10 20 30 40 50 60 MSSFDLPAPS PPRCSPQFPS IGQEPPEMNL YYENFFHPQG VPSPQRPSFE GGGEYGATPN 70 80 90 100 110 120 PYLWFNGPTM TPPPYLPGPN ASPFLPQAYG VQRPLLPSVS GLGGSDLGWL PIPSQEELMK 130 140 150 160 170 180 LVRPPYSYSA LIAMAIHGAP DKRLTLSQIY QYVADNFPFY NKSKAGWQNS IRHNLSLNDC 190 200 210 220 230 240 FKKVPRDEDD PAYVSGGSPT SHPLVTPGLS PEPSDKTGQN SLTFNSFSPL TNLSNHSGGG 250 260 270 280 DWANPMPTNM LSYGGSVLSQ FSPHFYNSVN TSGVLYPREG TEV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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] (ISOFORM 2). Tissue: Colon and Kidney.
[2]	"The winged helix transcriptional activator HFH-3 is expressed in the distal tubules of embryonic and adult mouse kidney." Overdier D.G., Ye H., Peterson R.S., Clevidence D.E., Costa R.H. J. Biol. Chem. 272:13725-13730(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-378 (ISOFORM 1). Tissue: Kidney.
[3]	Perez-Pinera P., Bray T.L., Vega J.A., Deuel T.F. Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 28-378 (ISOFORM 2).
[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 118-193.
[5]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	BC029778 mRNA. Translation: AAH29778.2. L13203 mRNA. Translation: AAB50574.1. Different initiation. AY707089 mRNA. Translation: AAU12169.1. Different initiation. U13224 Genomic DNA. Translation: AAA92041.1.
IPI	IPI00158273. IPI00220405.
PIR	A47450. S51629.
RefSeq	NP_036320.2. NM_012188.4. NP_658982.1. NM_144769.2.
UniGene	Hs.87236.
3D structure databases
ProteinModelPortal	Q12951.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000304286.
PTM databases
PhosphoSite	Q12951.
Polymorphism databases
DMDM	150421552.
Proteomic databases
PaxDb	Q12951.
PRIDE	Q12951.
Protocols and materials databases
DNASU	2299.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000306268; ENSP00000304286; ENSG00000168269. ENST00000449804; ENSP00000415483; ENSG00000168269.
GeneID	2299.
KEGG	hsa:2299.
UCSC	uc003mai.4. human. uc003maj.4. human.
Organism-specific databases
CTD	2299.
GeneCards	GC05P169465.
HGNC	HGNC:3815. FOXI1.
MIM	601093. gene.
neXtProt	NX_Q12951.
Orphanet	705. Pendred syndrome.
PharmGKB	PA28232.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5025.
HOGENOM	HOG000236333.
HOVERGEN	HBG067944.
InParanoid	Q12951.
KO	K09401.
OMA	QAYGVQR.
OrthoDB	EOG4XKV7D.
PhylomeDB	Q12951.
Gene expression databases
ArrayExpress	Q12951.
Bgee	Q12951.
CleanEx	HS_FOXI1.
Genevestigator	Q12951.
GermOnline	ENSG00000168269. 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	2299.
NextBio	9331.
SOURCE	Search...

Entry information

Entry name

FOXI1_HUMAN

Accession

Primary (citable) accession number: Q12951
Secondary accession number(s): Q14518, Q66SR7, Q8N6L8

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	June 26, 2007
Last modified:	May 1, 2013
This is version 122 of the entry and version 3 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.