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Q12951 (FOXI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 129. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length378 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 378378Forkhead box protein I1
PRO_0000091846

Regions

DNA binding123 – 21795Fork-head
Compositional bias7 – 9791Pro-rich

Natural variations

Alternative sequence192 – 28695Missing in isoform 2.
VSP_001543
Natural variant2431P → S.
Corresponds to variant rs35678180 [ dbSNP | Ensembl ].
VAR_049160
Natural variant3621N → S.
Corresponds to variant rs3828625 [ dbSNP | Ensembl ].
VAR_049161

Experimental info

Sequence conflict2 – 43SSF → NSG in AAB50574. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 26, 2007. Version 3.
Checksum: D99835F8A296F11C

FASTA37840,973
        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 

« Hide

Isoform 2 [UniParc].

Checksum: C0FEE52216219610
Show »

FASTA28330,814

References

« Hide '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.
PIRA47450.
S51629.
RefSeqNP_036320.2. NM_012188.4.
NP_658982.1. NM_144769.2.
UniGeneHs.87236.

3D structure databases

ProteinModelPortalQ12951.
SMRQ12951. Positions 121-212.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108588. 2 interactions.
STRING9606.ENSP00000304286.

PTM databases

PhosphoSiteQ12951.

Polymorphism databases

DMDM150421552.

Proteomic databases

PaxDbQ12951.
PRIDEQ12951.

Protocols and materials databases

DNASU2299.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000306268; ENSP00000304286; ENSG00000168269. [Q12951-1]
ENST00000449804; ENSP00000415483; ENSG00000168269. [Q12951-2]
GeneID2299.
KEGGhsa:2299.
UCSCuc003mai.4. human. [Q12951-1]
uc003maj.4. human. [Q12951-2]

Organism-specific databases

CTD2299.
GeneCardsGC05P169465.
HGNCHGNC:3815. FOXI1.
MIM601093. gene.
neXtProtNX_Q12951.
Orphanet705. Pendred syndrome.
PharmGKBPA28232.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5025.
HOGENOMHOG000236333.
HOVERGENHBG067944.
InParanoidQ12951.
KOK09401.
OMAQAYGVQR.
OrthoDBEOG7T4MKQ.
PhylomeDBQ12951.
TreeFamTF316127.

Enzyme and pathway databases

SignaLinkQ12951.

Gene expression databases

ArrayExpressQ12951.
BgeeQ12951.
CleanExHS_FOXI1.
GenevestigatorQ12951.

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

GeneWikiFOXI1.
GenomeRNAi2299.
NextBio9331.
PROQ12951.
SOURCESearch...

Entry information

Entry nameFOXI1_HUMAN
AccessionPrimary (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: March 19, 2014
This is version 129 of the entry and version 3 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM