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Q92949

- FOXJ1_HUMAN

UniProt

Q92949 - FOXJ1_HUMAN

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Protein

Forkhead box protein J1

Gene

FOXJ1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

Transcription factor required for motile ciliogenesis.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi120 – 21091Fork-headPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  3. transcription regulatory region sequence-specific DNA binding Source: BHF-UCL

GO - Biological processi

  1. actin cytoskeleton organization Source: BHF-UCL
  2. activation of Rho GTPase activity Source: BHF-UCL
  3. brain development Source: BHF-UCL
  4. central tolerance induction Source: BHF-UCL
  5. cilium assembly Source: BHF-UCL
  6. epithelium development Source: BHF-UCL
  7. establishment of apical/basal cell polarity Source: BHF-UCL
  8. glomerular parietal epithelial cell development Source: BHF-UCL
  9. humoral immune response Source: BHF-UCL
  10. left/right pattern formation Source: Ensembl
  11. leukocyte migration Source: BHF-UCL
  12. lung epithelium development Source: BHF-UCL
  13. metanephric part of ureteric bud development Source: BHF-UCL
  14. negative regulation of B cell activation Source: BHF-UCL
  15. negative regulation of germinal center formation Source: BHF-UCL
  16. negative regulation of humoral immune response mediated by circulating immunoglobulin Source: BHF-UCL
  17. negative regulation of interleukin-6 biosynthetic process Source: BHF-UCL
  18. negative regulation of NF-kappaB transcription factor activity Source: BHF-UCL
  19. negative regulation of T cell differentiation in thymus Source: BHF-UCL
  20. negative regulation of T cell proliferation Source: Ensembl
  21. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  22. pattern specification process Source: BHF-UCL
  23. positive regulation of central B cell tolerance induction Source: BHF-UCL
  24. positive regulation of lung ciliated cell differentiation Source: BHF-UCL
  25. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  26. spermatogenesis Source: UniProtKB
  27. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Cilium biogenesis/degradation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Forkhead box protein J1
Alternative name(s):
Forkhead-related protein FKHL13
Hepatocyte nuclear factor 3 forkhead homolog 4
Short name:
HFH-4
Gene namesi
Name:FOXJ1
Synonyms:FKHL13, HFH4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:3816. FOXJ1.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Allergic rhinitis (ALRH) [MIM:607154]: A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure.
Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Organism-specific databases

MIMi607154. phenotype.
PharmGKBiPA28233.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 421421Forkhead box protein J1PRO_0000091850Add
BLAST

Proteomic databases

PaxDbiQ92949.
PRIDEiQ92949.

Expressioni

Tissue specificityi

Testis, oviduct, lung and brain cortex.

Developmental stagei

Expressed in developing lung, kidney and central nervous system.

Gene expression databases

BgeeiQ92949.
CleanExiHS_FOXJ1.
GenevestigatoriQ92949.

Organism-specific databases

HPAiHPA005714.

Interactioni

Protein-protein interaction databases

BioGridi108591. 7 interactions.
IntActiQ92949. 8 interactions.
STRINGi9606.ENSP00000323880.

Structurei

3D structure databases

ProteinModelPortaliQ92949.
SMRiQ92949. Positions 121-214.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 fork-head DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG5025.
GeneTreeiENSGT00760000118794.
HOGENOMiHOG000112631.
HOVERGENiHBG056832.
InParanoidiQ92949.
KOiK09402.
OMAiWEAIFDA.
OrthoDBiEOG7T4MKM.
PhylomeDBiQ92949.
TreeFamiTF333250.

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]

Sequencei

Sequence statusi: Complete.

Q92949-1 [UniParc]FASTAAdd to Basket

« Hide

        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
Length:421
Mass (Da):45,247
Last modified:December 1, 2000 - v3
Checksum:iA8BB0020CB67F97F
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51W → C in CAA67729. (PubMed:9073514)Curated
Sequence conflicti5 – 51W → C in CAA67730. (PubMed:9073514)Curated
Sequence conflicti11 – 111A → T in CAA67729. (PubMed:9073514)Curated
Sequence conflicti11 – 111A → T in CAA67730. (PubMed:9073514)Curated
Sequence conflicti17 – 226AGPEGG → PAGGR in CAA67729. (PubMed:9073514)Curated
Sequence conflicti56 – 561G → A in AAB09039. (PubMed:9530170)Curated
Sequence conflicti257 – 2571A → P in CAA67729. (PubMed:9073514)Curated
Sequence conflicti257 – 2571A → P in CAA67730. (PubMed:9073514)Curated
Sequence conflicti262 – 28726GWGAG…AKVPR → VWVQARAGWDISPNTLCPRG GQGPA in CAA67729. (PubMed:9073514)CuratedAdd
BLAST
Sequence conflicti311 – 3111W → L in AAB09039. (PubMed:9530170)Curated
Sequence conflicti330 – 3301L → V in AAB09039. (PubMed:9530170)Curated

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.
CCDSiCCDS32739.1.
RefSeqiNP_001445.2. NM_001454.3.
UniGeneiHs.651204.

Genome annotation databases

EnsembliENST00000322957; ENSP00000323880; ENSG00000129654.
GeneIDi2302.
KEGGihsa:2302.
UCSCiuc002jqx.3. human.

Polymorphism databases

DMDMi12644465.

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.
UniGenei Hs.651204.

3D structure databases

ProteinModelPortali Q92949.
SMRi Q92949. Positions 121-214.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108591. 7 interactions.
IntActi Q92949. 8 interactions.
STRINGi 9606.ENSP00000323880.

Polymorphism databases

DMDMi 12644465.

Proteomic databases

PaxDbi Q92949.
PRIDEi Q92949.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000322957 ; ENSP00000323880 ; ENSG00000129654 .
GeneIDi 2302.
KEGGi hsa:2302.
UCSCi uc002jqx.3. human.

Organism-specific databases

CTDi 2302.
GeneCardsi GC17M074132.
HGNCi HGNC:3816. FOXJ1.
HPAi HPA005714.
MIMi 602291. gene.
607154. phenotype.
neXtProti NX_Q92949.
PharmGKBi PA28233.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5025.
GeneTreei ENSGT00760000118794.
HOGENOMi HOG000112631.
HOVERGENi HBG056832.
InParanoidi Q92949.
KOi K09402.
OMAi WEAIFDA.
OrthoDBi EOG7T4MKM.
PhylomeDBi Q92949.
TreeFami TF333250.

Miscellaneous databases

GeneWikii FOXJ1.
GenomeRNAii 2302.
NextBioi 9347.
PROi Q92949.
SOURCEi Search...

Gene expression databases

Bgeei Q92949.
CleanExi HS_FOXJ1.
Genevestigatori Q92949.

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. "A human forkhead/winged-helix transcription factor expressed in developing pulmonary and renal epithelium."
    Pelletier G.J., Brody S.L., Liapis H., White R.A., Hackett B.P.
    Am. J. Physiol. 274:L351-L359(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Fetal lung.
  2. "The human hepatocyte nuclear factor 3/fork head gene FKHL13: genomic structure and pattern of expression."
    Murphy D.B., Seemann S., Wiese S., Kirschner R., Grzeschik K.H., Thies U.
    Genomics 40:462-469(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    Tissue: Testis.
  3. "No deleterious mutations were found in the HFH-4 gene in patients with primary ciliary dyskinesia."
    Maiti A.K., Bartoloni L., Rossier C., Blouin J.-L., Antonarakis S.E.
    Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "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].
    Tissue: Brain.
  5. "Identification of single nucleotide polymorphisms in FOXJ1 and their association with allergic rhinitis."
    Li C.-S., Chae S.-C., Lee J.-H., Zhang Q., Chung H.-T.
    J. Hum. Genet. 51:292-297(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO ALRH.

Entry informationi

Entry nameiFOXJ1_HUMAN
AccessioniPrimary (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: October 29, 2014
This is version 125 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3