FOXI1_HUMAN
ID FOXI1_HUMAN Reviewed; 378 AA.
AC Q12951; Q14518; Q66SR7; Q8N6L8;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 26-JUN-2007, sequence version 3.
DT 03-AUG-2022, entry version 188.
DE RecName: Full=Forkhead box protein I1;
DE AltName: Full=Forkhead-related protein FKHL10;
DE AltName: Full=Forkhead-related transcription factor 6;
DE Short=FREAC-6;
DE AltName: Full=Hepatocyte nuclear factor 3 forkhead homolog 3;
DE Short=HFH-3;
DE Short=HNF-3/fork-head homolog 3;
GN Name=FOXI1; Synonyms=FKHL10, FREAC6;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Colon, and Kidney;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 2-378 (ISOFORM 1).
RC TISSUE=Kidney;
RX PubMed=9153225; DOI=10.1074/jbc.272.21.13725;
RA Overdier D.G., Ye H., Peterson R.S., Clevidence D.E., Costa R.H.;
RT "The winged helix transcriptional activator HFH-3 is expressed in the
RT distal tubules of embryonic and adult mouse kidney.";
RL J. Biol. Chem. 272:13725-13730(1997).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 28-378 (ISOFORM 2).
RA Perez-Pinera P., Bray T.L., Vega J.A., Deuel T.F.;
RL Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-193.
RX PubMed=7957066; DOI=10.1002/j.1460-2075.1994.tb06827.x;
RA Pierrou S., Hellqvist M., Samuelsson L., Enerbaeck S., Carlsson P.;
RT "Cloning and characterization of seven human forkhead proteins: binding
RT site specificity and DNA bending.";
RL EMBO J. 13:5002-5012(1994).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
CC -!- FUNCTION: Transcriptional activator required for the development of
CC normal hearing, sense of balance and kidney function. Required for the
CC expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial
CC cells and the development of the endolymphatic system in the inner ear.
CC Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1
CC and the differentiation of intercalated cells in the epithelium of
CC distal renal tubules (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q12951-2; Q9NXR5-2: ANKRD10; NbExp=3; IntAct=EBI-12018822, EBI-12102070;
CC Q12951-2; P15289: ARSA; NbExp=3; IntAct=EBI-12018822, EBI-2117357;
CC Q12951-2; Q9Y6H3: ATP23; NbExp=3; IntAct=EBI-12018822, EBI-12811889;
CC Q12951-2; Q8N1L9: BATF2; NbExp=3; IntAct=EBI-12018822, EBI-742695;
CC Q12951-2; Q9H0L4: CSTF2T; NbExp=3; IntAct=EBI-12018822, EBI-747012;
CC Q12951-2; Q86UW9: DTX2; NbExp=3; IntAct=EBI-12018822, EBI-740376;
CC Q12951-2; A1KXE4-2: FAM168B; NbExp=3; IntAct=EBI-12018822, EBI-12193763;
CC Q12951-2; Q86UY5: FAM83A; NbExp=3; IntAct=EBI-12018822, EBI-1384254;
CC Q12951-2; O14964: HGS; NbExp=3; IntAct=EBI-12018822, EBI-740220;
CC Q12951-2; Q9ULV5-2: HSF4; NbExp=3; IntAct=EBI-12018822, EBI-12056251;
CC Q12951-2; P0C870: JMJD7; NbExp=3; IntAct=EBI-12018822, EBI-9090173;
CC Q12951-2; Q8IUB9: KRTAP19-1; NbExp=3; IntAct=EBI-12018822, EBI-12811111;
CC Q12951-2; Q3SYF9: KRTAP19-7; NbExp=3; IntAct=EBI-12018822, EBI-10241353;
CC Q12951-2; Q9Y5V3: MAGED1; NbExp=3; IntAct=EBI-12018822, EBI-716006;
CC Q12951-2; P55197-2: MLLT10; NbExp=3; IntAct=EBI-12018822, EBI-12853322;
CC Q12951-2; Q8NI38: NFKBID; NbExp=3; IntAct=EBI-12018822, EBI-10271199;
CC Q12951-2; Q13526: PIN1; NbExp=3; IntAct=EBI-12018822, EBI-714158;
CC Q12951-2; Q9BTL3: RAMAC; NbExp=3; IntAct=EBI-12018822, EBI-744023;
CC Q12951-2; Q96M29: TEKT5; NbExp=3; IntAct=EBI-12018822, EBI-10239812;
CC Q12951-2; Q96A09: TENT5B; NbExp=3; IntAct=EBI-12018822, EBI-752030;
CC Q12951-2; Q6NVU6: UFSP1; NbExp=3; IntAct=EBI-12018822, EBI-12068150;
CC Q12951-2; Q70EL1-9: USP54; NbExp=3; IntAct=EBI-12018822, EBI-11975223;
CC Q12951-2; A5D8V6: VPS37C; NbExp=6; IntAct=EBI-12018822, EBI-2559305;
CC Q12951-2; Q64LD2-2: WDR25; NbExp=3; IntAct=EBI-12018822, EBI-12032042;
CC Q12951-2; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-12018822, EBI-12040603;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q12951-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q12951-2; Sequence=VSP_001543;
CC -!- TISSUE SPECIFICITY: Expressed in kidney.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAB50574.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAU12169.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; BC029778; AAH29778.2; -; mRNA.
DR EMBL; L13203; AAB50574.1; ALT_INIT; mRNA.
DR EMBL; AY707089; AAU12169.1; ALT_INIT; mRNA.
DR EMBL; U13224; AAA92041.1; -; Genomic_DNA.
DR CCDS; CCDS4372.1; -. [Q12951-1]
DR CCDS; CCDS47337.1; -. [Q12951-2]
DR PIR; A47450; A47450.
DR PIR; S51629; S51629.
DR RefSeq; NP_036320.2; NM_012188.4. [Q12951-1]
DR RefSeq; NP_658982.1; NM_144769.2. [Q12951-2]
DR AlphaFoldDB; Q12951; -.
DR SMR; Q12951; -.
DR BioGRID; 108588; 90.
DR IntAct; Q12951; 92.
DR MINT; Q12951; -.
DR STRING; 9606.ENSP00000304286; -.
DR iPTMnet; Q12951; -.
DR PhosphoSitePlus; Q12951; -.
DR BioMuta; FOXI1; -.
DR DMDM; 150421552; -.
DR MassIVE; Q12951; -.
DR PaxDb; Q12951; -.
DR PeptideAtlas; Q12951; -.
DR PRIDE; Q12951; -.
DR ProteomicsDB; 59045; -. [Q12951-1]
DR ProteomicsDB; 59046; -. [Q12951-2]
DR Antibodypedia; 28812; 506 antibodies from 31 providers.
DR DNASU; 2299; -.
DR Ensembl; ENST00000306268.8; ENSP00000304286.5; ENSG00000168269.10. [Q12951-1]
DR Ensembl; ENST00000449804.4; ENSP00000415483.2; ENSG00000168269.10. [Q12951-2]
DR GeneID; 2299; -.
DR KEGG; hsa:2299; -.
DR MANE-Select; ENST00000306268.8; ENSP00000304286.5; NM_012188.5; NP_036320.2.
DR UCSC; uc003mai.5; human. [Q12951-1]
DR CTD; 2299; -.
DR DisGeNET; 2299; -.
DR GeneCards; FOXI1; -.
DR GeneReviews; FOXI1; -.
DR HGNC; HGNC:3815; FOXI1.
DR HPA; ENSG00000168269; Tissue enhanced (kidney, salivary gland).
DR MalaCards; FOXI1; -.
DR MIM; 601093; gene.
DR neXtProt; NX_Q12951; -.
DR OpenTargets; ENSG00000168269; -.
DR Orphanet; 402041; Autosomal recessive distal renal tubular acidosis.
DR Orphanet; 705; Pendred syndrome.
DR PharmGKB; PA28232; -.
DR VEuPathDB; HostDB:ENSG00000168269; -.
DR eggNOG; KOG2294; Eukaryota.
DR GeneTree; ENSGT00940000161316; -.
DR HOGENOM; CLU_046860_1_0_1; -.
DR InParanoid; Q12951; -.
DR OMA; KREPFIR; -.
DR PhylomeDB; Q12951; -.
DR TreeFam; TF316127; -.
DR PathwayCommons; Q12951; -.
DR SignaLink; Q12951; -.
DR SIGNOR; Q12951; -.
DR BioGRID-ORCS; 2299; 13 hits in 1092 CRISPR screens.
DR ChiTaRS; FOXI1; human.
DR GeneWiki; FOXI1; -.
DR GenomeRNAi; 2299; -.
DR Pharos; Q12951; Tbio.
DR PRO; PR:Q12951; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q12951; protein.
DR Bgee; ENSG00000168269; Expressed in metanephros cortex and 31 other tissues.
DR ExpressionAtlas; Q12951; baseline and differential.
DR Genevisible; Q12951; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IC:UniProtKB.
DR GO; GO:0008301; F:DNA binding, bending; NAS:UniProtKB.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:0043565; F:sequence-specific DNA binding; ISS:UniProtKB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; ISS:UniProtKB.
DR GO; GO:0009653; P:anatomical structure morphogenesis; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0009792; P:embryo development ending in birth or egg hatching; NAS:UniProtKB.
DR GO; GO:0042472; P:inner ear morphogenesis; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00059; FH; 1.
DR Gene3D; 1.10.10.10; -; 1.
DR InterPro; IPR001766; Fork_head_dom.
DR InterPro; IPR033065; Foxi1.
DR InterPro; IPR018122; TF_fork_head_CS_1.
DR InterPro; IPR030456; TF_fork_head_CS_2.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR InterPro; IPR036390; WH_DNA-bd_sf.
DR PANTHER; PTHR11829:SF180; PTHR11829:SF180; 1.
DR Pfam; PF00250; Forkhead; 1.
DR PRINTS; PR00053; FORKHEAD.
DR SMART; SM00339; FH; 1.
DR SUPFAM; SSF46785; SSF46785; 1.
DR PROSITE; PS00657; FORK_HEAD_1; 1.
DR PROSITE; PS00658; FORK_HEAD_2; 1.
DR PROSITE; PS50039; FORK_HEAD_3; 1.
PE 1: Evidence at protein level;
KW Activator; Alternative splicing; DNA-binding; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..378
FT /note="Forkhead box protein I1"
FT /id="PRO_0000091846"
FT DNA_BIND 123..217
FT /note="Fork-head"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00089"
FT REGION 1..26
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 208..278
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 223..244
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 192..286
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.3"
FT /id="VSP_001543"
FT VARIANT 243
FT /note="P -> S (in dbSNP:rs35678180)"
FT /id="VAR_049160"
FT VARIANT 362
FT /note="N -> S (in dbSNP:rs3828625)"
FT /id="VAR_049161"
FT CONFLICT 2..4
FT /note="SSF -> NSG (in Ref. 2; AAB50574)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 378 AA; 40973 MW; D99835F8A296F11C CRC64;
MSSFDLPAPS PPRCSPQFPS IGQEPPEMNL YYENFFHPQG VPSPQRPSFE GGGEYGATPN
PYLWFNGPTM TPPPYLPGPN ASPFLPQAYG VQRPLLPSVS GLGGSDLGWL PIPSQEELMK
LVRPPYSYSA LIAMAIHGAP DKRLTLSQIY QYVADNFPFY NKSKAGWQNS IRHNLSLNDC
FKKVPRDEDD PGKGNYWTLD PNCEKMFDNG NFRRKRKRKS DVSSSTASLA LEKTESSLPV
DSPKTTEPQD ILDGASPGGT TSSPEKRPSP PPSGAPCLNS FLSSMTAYVS GGSPTSHPLV
TPGLSPEPSD KTGQNSLTFN SFSPLTNLSN HSGGGDWANP MPTNMLSYGG SVLSQFSPHF
YNSVNTSGVL YPREGTEV
