Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q12951

- FOXI1_HUMAN

UniProt

Q12951 - FOXI1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Forkhead box protein I1

Gene

FOXI1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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

  1. DNA binding, bending Source: UniProtKB
  2. sequence-specific DNA binding Source: UniProtKB
  3. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  4. transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

  1. embryo development Source: UniProtKB
  2. inner ear morphogenesis Source: Ensembl
  3. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  4. transcription, DNA-templated Source: UniProtKB-KW
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: Chromosome 5

Organism-specific databases

HGNCiHGNC:3815. FOXI1.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

Orphaneti705. Pendred syndrome.
PharmGKBiPA28232.

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.
GenevestigatoriQ12951.

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.
OMAiQAYGVQR.
OrthoDBiEOG7T4MKQ.
PhylomeDBiQ12951.
TreeFamiTF316127.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
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. Align

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

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:
EMBL
GenBank
DDBJ
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. [Q12951-1]
ENST00000449804; ENSP00000415483; ENSG00000168269. [Q12951-2]
GeneIDi2299.
KEGGihsa:2299.
UCSCiuc003mai.4. human. [Q12951-1]
uc003maj.4. human. [Q12951-2]

Polymorphism databases

DMDMi150421552.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS4372.1. [Q12951-1 ]
CCDS47337.1. [Q12951-2 ]
PIRi A47450.
S51629.
RefSeqi NP_036320.2. NM_012188.4. [Q12951-1 ]
NP_658982.1. NM_144769.2. [Q12951-2 ]
UniGenei Hs.87236.

3D structure databases

ProteinModelPortali Q12951.
SMRi Q12951. Positions 121-212.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108588. 2 interactions.
STRINGi 9606.ENSP00000304286.

PTM databases

PhosphoSitei Q12951.

Polymorphism databases

DMDMi 150421552.

Proteomic databases

PaxDbi Q12951.
PRIDEi Q12951.

Protocols and materials databases

DNASUi 2299.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000306268 ; ENSP00000304286 ; ENSG00000168269 . [Q12951-1 ]
ENST00000449804 ; ENSP00000415483 ; ENSG00000168269 . [Q12951-2 ]
GeneIDi 2299.
KEGGi hsa:2299.
UCSCi uc003mai.4. human. [Q12951-1 ]
uc003maj.4. human. [Q12951-2 ]

Organism-specific databases

CTDi 2299.
GeneCardsi GC05P169532.
GeneReviewsi FOXI1.
HGNCi HGNC:3815. FOXI1.
MIMi 601093. gene.
neXtProti NX_Q12951.
Orphaneti 705. Pendred syndrome.
PharmGKBi PA28232.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5025.
GeneTreei ENSGT00760000118904.
HOGENOMi HOG000236333.
HOVERGENi HBG067944.
InParanoidi Q12951.
KOi K09401.
OMAi QAYGVQR.
OrthoDBi EOG7T4MKQ.
PhylomeDBi Q12951.
TreeFami TF316127.

Enzyme and pathway databases

SignaLinki Q12951.

Miscellaneous databases

GeneWikii FOXI1.
GenomeRNAii 2299.
NextBioi 9331.
PROi Q12951.
SOURCEi Search...

Gene expression databases

Bgeei Q12951.
CleanExi HS_FOXI1.
ExpressionAtlasi Q12951. baseline and differential.
Genevestigatori Q12951.

Family and domain databases

Gene3Di 1.10.10.10. 1 hit.
InterProi IPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00250. Fork_head. 1 hit.
[Graphical view ]
PRINTSi PR00053. FORKHEAD.
SMARTi SM00339. FH. 1 hit.
[Graphical view ]
PROSITEi PS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: October 29, 2014
This is version 133 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