Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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)DescriptionActionsGraphical viewLength
DNA bindingi123 – 217Fork-headPROSITE-ProRule annotationAdd BLAST95

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

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
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000168269.8.
HGNCiHGNC:3815. FOXI1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi2299.
GeneReviewsiFOXI1.
MalaCardsiFOXI1.
OpenTargetsiENSG00000168269.
Orphaneti705. Pendred syndrome.
PharmGKBiPA28232.

Polymorphism and mutation databases

BioMutaiFOXI1.
DMDMi150421552.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000918461 – 378Forkhead box protein I1Add BLAST378

Proteomic databases

PaxDbiQ12951.
PeptideAtlasiQ12951.
PRIDEiQ12951.

PTM databases

iPTMnetiQ12951.
PhosphoSitePlusiQ12951.

Expressioni

Tissue specificityi

Expressed in kidney.

Gene expression databases

BgeeiENSG00000168269.
CleanExiHS_FOXI1.
ExpressionAtlasiQ12951. baseline and differential.
GenevisibleiQ12951. HS.

Organism-specific databases

HPAiHPA071469.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
VPS37CA5D8V64EBI-12018822,EBI-2559305

Protein-protein interaction databases

BioGridi108588. 12 interactors.
IntActiQ12951. 34 interactors.
STRINGi9606.ENSP00000304286.

Structurei

3D structure databases

ProteinModelPortaliQ12951.
SMRiQ12951.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi7 – 97Pro-richAdd BLAST91

Phylogenomic databases

eggNOGiKOG2294. Eukaryota.
COG5025. LUCA.
GeneTreeiENSGT00760000118904.
HOGENOMiHOG000236333.
HOVERGENiHBG067944.
InParanoidiQ12951.
KOiK09401.
OMAiNQFSPHF.
OrthoDBiEOG091G0ESH.
PhylomeDBiQ12951.
TreeFamiTF316127.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiView protein in InterPro
IPR001766. Fork_head_dom.
IPR033065. Foxi1.
IPR018122. TF_fork_head_CS_1.
IPR030456. TF_fork_head_CS_2.
IPR011991. WHTH_DNA-bd_dom.
PANTHERiPTHR11829:SF239. PTHR11829:SF239. 1 hit.
PfamiView protein in Pfam
PF00250. Forkhead. 1 hit.
PRINTSiPR00053. FORKHEAD.
SMARTiView protein in SMART
SM00339. FH. 1 hit.
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiView protein in PROSITE
PS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2 – 4SSF → NSG in AAB50574 (PubMed:9153225).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049160243P → S. Corresponds to variant dbSNP:rs35678180Ensembl.1
Natural variantiVAR_049161362N → S. Corresponds to variant dbSNP:rs3828625Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001543192 – 286Missing in isoform 2. 2 PublicationsAdd BLAST95

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. [Q12951-1]
ENST00000449804; ENSP00000415483; ENSG00000168269. [Q12951-2]
GeneIDi2299.
KEGGihsa:2299.
UCSCiuc003mai.5. human. [Q12951-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFOXI1_HUMAN
AccessioniPrimary (citable) accession number: Q12951
Secondary accession number(s): Q14518, Q66SR7, Q8N6L8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: June 26, 2007
Last modified: September 27, 2017
This is version 158 of the entry and version 3 of the sequence. See 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