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UniProtKB - Q92949 (FOXJ1_HUMAN)
Protein
Forkhead box protein J1
Gene
FOXJ1
Organism
Homo sapiens (Human)
Status
Functioni
Transcription factor specifically required for the formation of motile cilia (PubMed:31630787).
Acts by activating transcription of genes that mediate assembly of motile cilia, such as CFAP157. Binds the DNA consensus sequences 5'-HWDTGTTTGTTTA-3' or 5'-KTTTGTTGTTKTW-3' (where H is not G, W is A or T, D is not C, and K is G or T). Activates the transcription of a variety of ciliary proteins in the developing brain and lung.
By similarity1 PublicationRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 120 – 210 | Fork-headPROSITE-ProRule annotationAdd BLAST | 91 |
GO - Molecular functioni
- DNA binding Source: UniProtKB
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: UniProtKB
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- transcription cis-regulatory region binding Source: BHF-UCL
GO - Biological processi
- actin cytoskeleton organization Source: BHF-UCL
- activation of GTPase activity Source: BHF-UCL
- axoneme assembly Source: UniProtKB
- brain development Source: BHF-UCL
- cellular protein localization Source: UniProtKB
- central tolerance induction Source: BHF-UCL
- ciliary basal body organization Source: UniProtKB
- cilium assembly Source: UniProtKB
- determination of left/right symmetry Source: UniProtKB
- epithelium development Source: BHF-UCL
- establishment of apical/basal cell polarity Source: BHF-UCL
- glomerular parietal epithelial cell development Source: BHF-UCL
- heart development Source: Ensembl
- humoral immune response Source: BHF-UCL
- left/right pattern formation Source: Ensembl
- leukocyte migration Source: BHF-UCL
- lung epithelium development Source: BHF-UCL
- metanephric part of ureteric bud development Source: BHF-UCL
- motile cilium assembly Source: Ensembl
- negative regulation of B cell activation Source: BHF-UCL
- negative regulation of germinal center formation Source: BHF-UCL
- negative regulation of humoral immune response mediated by circulating immunoglobulin Source: BHF-UCL
- negative regulation of interleukin-6 production Source: BHF-UCL
- negative regulation of NF-kappaB transcription factor activity Source: BHF-UCL
- negative regulation of T cell differentiation in thymus Source: BHF-UCL
- negative regulation of T cell proliferation Source: Ensembl
- negative regulation of transcription by RNA polymerase II Source: BHF-UCL
- pattern specification process Source: BHF-UCL
- positive regulation of central B cell tolerance induction Source: BHF-UCL
- positive regulation of lung ciliated cell differentiation Source: BHF-UCL
- positive regulation of transcription by RNA polymerase II Source: BHF-UCL
- regulation of transcription by RNA polymerase II Source: GO_Central
- spermatogenesis Source: UniProtKB
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Cilium biogenesis/degradation, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q92949 |
SignaLinki | Q92949 |
Names & Taxonomyi
Protein namesi | Recommended name: Forkhead box protein J1CuratedAlternative name(s): Forkhead-related protein FKHL131 Publication Hepatocyte nuclear factor 3 forkhead homolog 41 Publication Short name: HFH-41 Publication |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3816, FOXJ1 |
MIMi | 602291, gene |
neXtProti | NX_Q92949 |
VEuPathDBi | HostDB:ENSG00000129654 |
Pathology & Biotechi
Involvement in diseasei
Allergic rhinitis (ALRH)1 Publication
Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Disease descriptionA common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure.
Related information in OMIMCiliary dyskinesia, primary, 43 (CILD43)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients with this disorder also develop significant obstructive hydrocephalus. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. CILD43 inheritance is autosomal dominant.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083456 | 276 – 421 | Missing in CILD43; reduced number of cilia and mislocalized basal bodies; defects of axonemal microtubular organization; loss of ability to propel mucous along the surface of the epithelium; abnormal localization of PTK2. 1 PublicationAdd BLAST | 146 | |
Natural variantiVAR_083457 | 301 – 421 | Missing in CILD43; reduced number of cilia and mislocalized basal bodies; defects of axonemal microtubular organization; loss of ability to propel mucous along the surface of the epithelium; abnormal localization of PTK2. 1 PublicationAdd BLAST | 121 |
Keywords - Diseasei
Ciliopathy, Disease variant, Primary ciliary dyskinesiaOrganism-specific databases
DisGeNETi | 2302 |
MalaCardsi | FOXJ1 |
MIMi | 607154, phenotype 618699, phenotype |
OpenTargetsi | ENSG00000129654 |
Orphaneti | 244, Primary ciliary dyskinesia |
PharmGKBi | PA28233 |
Miscellaneous databases
Pharosi | Q92949, Tbio |
Genetic variation databases
BioMutai | FOXJ1 |
DMDMi | 12644465 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000091850 | 1 – 421 | Forkhead box protein J1Add BLAST | 421 |
Proteomic databases
jPOSTi | Q92949 |
MassIVEi | Q92949 |
MaxQBi | Q92949 |
PaxDbi | Q92949 |
PeptideAtlasi | Q92949 |
PRIDEi | Q92949 |
ProteomicsDBi | 75620 |
PTM databases
iPTMneti | Q92949 |
PhosphoSitePlusi | Q92949 |
Expressioni
Tissue specificityi
Testis, oviduct, lung and brain cortex.
Developmental stagei
Expressed in developing lung, kidney and central nervous system.
Gene expression databases
Bgeei | ENSG00000129654, Expressed in right uterine tube and 169 other tissues |
ExpressionAtlasi | Q92949, baseline and differential |
Genevisiblei | Q92949, HS |
Organism-specific databases
HPAi | ENSG00000129654, Tissue enhanced (brain, choroid plexus, fallopian tube) |
Interactioni
Binary interactionsi
Q92949
With | #Exp. | IntAct |
---|---|---|
RFX2 [P48378] | 5 | EBI-1760377,EBI-746731 |
Protein-protein interaction databases
BioGRIDi | 108591, 25 interactors |
IntActi | Q92949, 23 interactors |
MINTi | Q92949 |
STRINGi | 9606.ENSP00000323880 |
Miscellaneous databases
RNActi | Q92949, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 34 | DisorderedSequence analysisAdd BLAST | 34 | |
Regioni | 48 – 116 | DisorderedSequence analysisAdd BLAST | 69 | |
Regioni | 261 – 302 | DisorderedSequence analysisAdd BLAST | 42 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 87 – 101 | Polar residuesSequence analysisAdd BLAST | 15 |
Sequence similaritiesi
Belongs to the FOXJ1 family.Curated
Phylogenomic databases
eggNOGi | KOG2294, Eukaryota |
GeneTreei | ENSGT00940000156895 |
HOGENOMi | CLU_050055_0_0_1 |
InParanoidi | Q92949 |
OMAi | TWGPPVE |
OrthoDBi | 1270467at2759 |
PhylomeDBi | Q92949 |
TreeFami | TF333250 |
Family and domain databases
CDDi | cd00059, FH, 1 hit |
Gene3Di | 1.10.10.10, 1 hit |
InterProi | View protein in InterPro IPR001766, Fork_head_dom IPR018122, TF_fork_head_CS_1 IPR030456, TF_fork_head_CS_2 IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
Pfami | View protein in Pfam PF00250, Forkhead, 1 hit |
PRINTSi | PR00053, FORKHEAD |
SMARTi | View protein in SMART SM00339, FH, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS00657, FORK_HEAD_1, 1 hit PS00658, FORK_HEAD_2, 1 hit PS50039, FORK_HEAD_3, 1 hit |
i Sequence
Sequence statusi: Complete.
Q92949-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAESWLRLSG AGPAEEAGPE GGLEEPDALD DSLTSLQWLQ EFSILNAKAP
60 70 80 90 100
ALPPGGTDPH GYHQVPGSAA PGSPLAADPA CLGQPHTPGK PTSSCTSRSA
110 120 130 140 150
PPGLQAPPPD DVDYATNPHV KPPYSYATLI CMAMQASKAT KITLSAIYKW
160 170 180 190 200
ITDNFCYFRH ADPTWQNSIR HNLSLNKCFI KVPREKDEPG KGGFWRIDPQ
210 220 230 240 250
YAERLLSGAF KKRRLPPVHI HPAFARQAAQ EPSAVPRAGP LTVNTEAQQL
260 270 280 290 300
LREFEEATGE AGWGAGEGRL GHKRKQPLPK RVAKVPRPPS TLLPTPEEQG
310 320 330 340 350
ELEPLKGNFD WEAIFDAGTL GGELGALEAL ELSPPLSPAS HVDVDLTIHG
360 370 380 390 400
RHIDCPATWG PSVEQAADSL DFDETFLATS FLQHPWDESG SGCLPPEPLF
410 420
EAGDATLASD LQDWASVGAF L
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 5 | W → C in CAA67729 (PubMed:9073514).Curated | 1 | |
Sequence conflicti | 5 | W → C in CAA67730 (PubMed:9073514).Curated | 1 | |
Sequence conflicti | 11 | A → T in CAA67729 (PubMed:9073514).Curated | 1 | |
Sequence conflicti | 11 | A → T in CAA67730 (PubMed:9073514).Curated | 1 | |
Sequence conflicti | 17 – 22 | AGPEGG → PAGGR in CAA67729 (PubMed:9073514).Curated | 6 | |
Sequence conflicti | 56 | G → A in AAB09039 (PubMed:9530170).Curated | 1 | |
Sequence conflicti | 257 | A → P in CAA67729 (PubMed:9073514).Curated | 1 | |
Sequence conflicti | 257 | A → P in CAA67730 (PubMed:9073514).Curated | 1 | |
Sequence conflicti | 262 – 287 | GWGAG…AKVPR → VWVQARAGWDISPNTLCPRG GQGPA in CAA67729 (PubMed:9073514).CuratedAdd BLAST | 26 | |
Sequence conflicti | 311 | W → L in AAB09039 (PubMed:9530170).Curated | 1 | |
Sequence conflicti | 330 | L → V in AAB09039 (PubMed:9530170).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083456 | 276 – 421 | Missing in CILD43; reduced number of cilia and mislocalized basal bodies; defects of axonemal microtubular organization; loss of ability to propel mucous along the surface of the epithelium; abnormal localization of PTK2. 1 PublicationAdd BLAST | 146 | |
Natural variantiVAR_083457 | 301 – 421 | Missing in CILD43; reduced number of cilia and mislocalized basal bodies; defects of axonemal microtubular organization; loss of ability to propel mucous along the surface of the epithelium; abnormal localization of PTK2. 1 PublicationAdd BLAST | 121 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U69537 mRNA Translation: AAB09039.1 X99349 mRNA Translation: CAA67729.1 X99350, X99351 Genomic DNA Translation: CAA67730.1 AJ272064 Genomic DNA Translation: CAB76562.1 BC046460 mRNA Translation: AAH46460.1 |
CCDSi | CCDS32739.1 |
RefSeqi | NP_001445.2, NM_001454.3 |
Genome annotation databases
Ensembli | ENST00000322957; ENSP00000323880; ENSG00000129654 |
GeneIDi | 2302 |
KEGGi | hsa:2302 |
MANE-Selecti | ENST00000322957.7; ENSP00000323880.4; NM_001454.4; NP_001445.2 |
UCSCi | uc002jqx.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U69537 mRNA Translation: AAB09039.1 X99349 mRNA Translation: CAA67729.1 X99350, X99351 Genomic DNA Translation: CAA67730.1 AJ272064 Genomic DNA Translation: CAB76562.1 BC046460 mRNA Translation: AAH46460.1 |
CCDSi | CCDS32739.1 |
RefSeqi | NP_001445.2, NM_001454.3 |
3D structure databases
SMRi | Q92949 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108591, 25 interactors |
IntActi | Q92949, 23 interactors |
MINTi | Q92949 |
STRINGi | 9606.ENSP00000323880 |
PTM databases
iPTMneti | Q92949 |
PhosphoSitePlusi | Q92949 |
Genetic variation databases
BioMutai | FOXJ1 |
DMDMi | 12644465 |
Proteomic databases
jPOSTi | Q92949 |
MassIVEi | Q92949 |
MaxQBi | Q92949 |
PaxDbi | Q92949 |
PeptideAtlasi | Q92949 |
PRIDEi | Q92949 |
ProteomicsDBi | 75620 |
Protocols and materials databases
Antibodypediai | 1443, 247 antibodies from 31 providers |
DNASUi | 2302 |
Genome annotation databases
Ensembli | ENST00000322957; ENSP00000323880; ENSG00000129654 |
GeneIDi | 2302 |
KEGGi | hsa:2302 |
MANE-Selecti | ENST00000322957.7; ENSP00000323880.4; NM_001454.4; NP_001445.2 |
UCSCi | uc002jqx.4, human |
Organism-specific databases
CTDi | 2302 |
DisGeNETi | 2302 |
GeneCardsi | FOXJ1 |
HGNCi | HGNC:3816, FOXJ1 |
HPAi | ENSG00000129654, Tissue enhanced (brain, choroid plexus, fallopian tube) |
MalaCardsi | FOXJ1 |
MIMi | 602291, gene 607154, phenotype 618699, phenotype |
neXtProti | NX_Q92949 |
OpenTargetsi | ENSG00000129654 |
Orphaneti | 244, Primary ciliary dyskinesia |
PharmGKBi | PA28233 |
VEuPathDBi | HostDB:ENSG00000129654 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2294, Eukaryota |
GeneTreei | ENSGT00940000156895 |
HOGENOMi | CLU_050055_0_0_1 |
InParanoidi | Q92949 |
OMAi | TWGPPVE |
OrthoDBi | 1270467at2759 |
PhylomeDBi | Q92949 |
TreeFami | TF333250 |
Enzyme and pathway databases
PathwayCommonsi | Q92949 |
SignaLinki | Q92949 |
Miscellaneous databases
BioGRID-ORCSi | 2302, 10 hits in 1059 CRISPR screens |
ChiTaRSi | FOXJ1, human |
GeneWikii | FOXJ1 |
GenomeRNAii | 2302 |
Pharosi | Q92949, Tbio |
PROi | PR:Q92949 |
RNActi | Q92949, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000129654, Expressed in right uterine tube and 169 other tissues |
ExpressionAtlasi | Q92949, baseline and differential |
Genevisiblei | Q92949, HS |
Family and domain databases
CDDi | cd00059, FH, 1 hit |
Gene3Di | 1.10.10.10, 1 hit |
InterProi | View protein in InterPro IPR001766, Fork_head_dom IPR018122, TF_fork_head_CS_1 IPR030456, TF_fork_head_CS_2 IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
Pfami | View protein in Pfam PF00250, Forkhead, 1 hit |
PRINTSi | PR00053, FORKHEAD |
SMARTi | View protein in SMART SM00339, FH, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS00657, FORK_HEAD_1, 1 hit PS00658, FORK_HEAD_2, 1 hit PS50039, FORK_HEAD_3, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | FOXJ1_HUMAN | |
Accessioni | Q92949Primary (citable) accession number: Q92949 Secondary accession number(s): O00630 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | December 1, 2000 | |
Last modified: | February 23, 2022 | |
This is version 180 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families