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Protein

Forkhead box protein I1

Gene

FOXI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
SIGNORiQ12951

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
MIMi601093 gene
neXtProtiNX_Q12951

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
MINTiQ12951
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
OMAiGGEWANP
OrthoDBiEOG091G0ESH
PhylomeDBiQ12951
TreeFamiTF316127

Family and domain databases

CDDicd00059 FH, 1 hit
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
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR11829:SF180 PTHR11829:SF180, 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: May 23, 2018
This is version 163 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

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