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Protein

Forkhead box protein I1

Gene

FOXI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi123 – 21795Fork-headPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

  • embryo development Source: UniProtKB
  • inner ear morphogenesis Source: Ensembl
  • positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • transcription from RNA polymerase II promoter Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiQ12951.

Names & Taxonomyi

Protein namesi
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 namesi
Name:FOXI1
Synonyms:FKHL10, FREAC6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:3815. FOXI1.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

Orphaneti705. Pendred syndrome.
PharmGKBiPA28232.

Polymorphism and mutation databases

BioMutaiFOXI1.
DMDMi150421552.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 378378Forkhead box protein I1PRO_0000091846Add
BLAST

Proteomic databases

PaxDbiQ12951.
PRIDEiQ12951.

PTM databases

PhosphoSiteiQ12951.

Expressioni

Tissue specificityi

Expressed in kidney.

Gene expression databases

BgeeiQ12951.
CleanExiHS_FOXI1.
ExpressionAtlasiQ12951. baseline and differential.
GenevisibleiQ12951. HS.

Interactioni

Protein-protein interaction databases

BioGridi108588. 2 interactions.
STRINGi9606.ENSP00000304286.

Structurei

3D structure databases

ProteinModelPortaliQ12951.
SMRiQ12951. Positions 121-212.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi7 – 9791Pro-richAdd
BLAST

Sequence similaritiesi

Contains 1 fork-head DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG5025.
GeneTreeiENSGT00760000118904.
HOGENOMiHOG000236333.
HOVERGENiHBG067944.
InParanoidiQ12951.
KOiK09401.
OMAiVLNQFSP.
OrthoDBiEOG7T4MKQ.
PhylomeDBiQ12951.
TreeFamiTF316127.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS_1.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSiPR00053. FORKHEAD.
SMARTiSM00339. FH. 1 hit.
[Graphical view]
PROSITEiPS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q12951-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MSSFDLPAPS PPRCSPQFPS IGQEPPEMNL YYENFFHPQG VPSPQRPSFE
60 70 80 90 100
GGGEYGATPN PYLWFNGPTM TPPPYLPGPN ASPFLPQAYG VQRPLLPSVS
110 120 130 140 150
GLGGSDLGWL PIPSQEELMK LVRPPYSYSA LIAMAIHGAP DKRLTLSQIY
160 170 180 190 200
QYVADNFPFY NKSKAGWQNS IRHNLSLNDC FKKVPRDEDD PGKGNYWTLD
210 220 230 240 250
PNCEKMFDNG NFRRKRKRKS DVSSSTASLA LEKTESSLPV DSPKTTEPQD
260 270 280 290 300
ILDGASPGGT TSSPEKRPSP PPSGAPCLNS FLSSMTAYVS GGSPTSHPLV
310 320 330 340 350
TPGLSPEPSD KTGQNSLTFN SFSPLTNLSN HSGGGDWANP MPTNMLSYGG
360 370
SVLSQFSPHF YNSVNTSGVL YPREGTEV
Length:378
Mass (Da):40,973
Last modified:June 26, 2007 - v3
Checksum:iD99835F8A296F11C
GO
Isoform 2 (identifier: Q12951-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:283
Mass (Da):30,814
Checksum:iC0FEE52216219610
GO

Sequence cautioni

The sequence AAB50574.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAU12169.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2 – 43SSF → NSG in AAB50574 (PubMed:9153225).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti243 – 2431P → S.
Corresponds to variant rs35678180 [ dbSNP | Ensembl ].
VAR_049160
Natural varianti362 – 3621N → S.
Corresponds to variant rs3828625 [ dbSNP | Ensembl ].
VAR_049161

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei192 – 28695Missing in isoform 2. 2 PublicationsVSP_001543Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS4372.1. [Q12951-1]
CCDS47337.1. [Q12951-2]
PIRiA47450.
S51629.
RefSeqiNP_036320.2. NM_012188.4. [Q12951-1]
NP_658982.1. NM_144769.2. [Q12951-2]
UniGeneiHs.87236.

Genome annotation databases

EnsembliENST00000306268; ENSP00000304286; ENSG00000168269.
ENST00000449804; ENSP00000415483; ENSG00000168269. [Q12951-2]
GeneIDi2299.
KEGGihsa:2299.
UCSCiuc003mai.4. human. [Q12951-1]
uc003maj.4. human. [Q12951-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS4372.1. [Q12951-1]
CCDS47337.1. [Q12951-2]
PIRiA47450.
S51629.
RefSeqiNP_036320.2. NM_012188.4. [Q12951-1]
NP_658982.1. NM_144769.2. [Q12951-2]
UniGeneiHs.87236.

3D structure databases

ProteinModelPortaliQ12951.
SMRiQ12951. Positions 121-212.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108588. 2 interactions.
STRINGi9606.ENSP00000304286.

PTM databases

PhosphoSiteiQ12951.

Polymorphism and mutation databases

BioMutaiFOXI1.
DMDMi150421552.

Proteomic databases

PaxDbiQ12951.
PRIDEiQ12951.

Protocols and materials databases

DNASUi2299.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306268; ENSP00000304286; ENSG00000168269.
ENST00000449804; ENSP00000415483; ENSG00000168269. [Q12951-2]
GeneIDi2299.
KEGGihsa:2299.
UCSCiuc003mai.4. human. [Q12951-1]
uc003maj.4. human. [Q12951-2]

Organism-specific databases

CTDi2299.
GeneCardsiGC05P169532.
GeneReviewsiFOXI1.
HGNCiHGNC:3815. FOXI1.
MIMi601093. gene.
neXtProtiNX_Q12951.
Orphaneti705. Pendred syndrome.
PharmGKBiPA28232.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5025.
GeneTreeiENSGT00760000118904.
HOGENOMiHOG000236333.
HOVERGENiHBG067944.
InParanoidiQ12951.
KOiK09401.
OMAiVLNQFSP.
OrthoDBiEOG7T4MKQ.
PhylomeDBiQ12951.
TreeFamiTF316127.

Enzyme and pathway databases

SignaLinkiQ12951.

Miscellaneous databases

GeneWikiiFOXI1.
GenomeRNAii2299.
NextBioi9331.
PROiQ12951.
SOURCEiSearch...

Gene expression databases

BgeeiQ12951.
CleanExiHS_FOXI1.
ExpressionAtlasiQ12951. baseline and differential.
GenevisibleiQ12951. HS.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS_1.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSiPR00053. FORKHEAD.
SMARTiSM00339. FH. 1 hit.
[Graphical view]
PROSITEiPS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiFOXI1_HUMAN
AccessioniPrimary (citable) accession number: Q12951
Secondary accession number(s): Q14518, Q66SR7, Q8N6L8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: June 26, 2007
Last modified: July 22, 2015
This is version 139 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.