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Q92949 (FOXJ1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Forkhead box protein J1
Alternative name(s):
Forkhead-related protein FKHL13
Hepatocyte nuclear factor 3 forkhead homolog 4
Short name=HFH-4
Gene names
Name:FOXJ1
Synonyms:FKHL13, HFH4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length421 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May play an important role in cell fate determination during lung development and in spermatogenesis By similarity.

Subcellular location

Nucleus.

Tissue specificity

Testis, oviduct, lung and brain cortex.

Developmental stage

Expressed in developing lung, kidney and central nervous system.

Involvement in disease

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. Ref.5

Sequence similarities

Contains 1 fork-head DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processactin cytoskeleton organization

Inferred from sequence or structural similarity. Source: BHF-UCL

activation of Rho GTPase activity

Inferred from sequence or structural similarity. Source: BHF-UCL

brain development

Inferred from sequence or structural similarity Ref.2. Source: BHF-UCL

central tolerance induction

Inferred from sequence or structural similarity. Source: BHF-UCL

cilium assembly

Inferred from sequence or structural similarity. Source: BHF-UCL

epithelium development

Inferred from sequence or structural similarity Ref.2. Source: BHF-UCL

establishment of apical/basal cell polarity

Inferred from sequence or structural similarity. Source: BHF-UCL

glomerular parietal epithelial cell development

Inferred from expression pattern Ref.1. Source: BHF-UCL

heart looping

Inferred from Biological aspect of Ancestor. Source: RefGenome

humoral immune response

Inferred from sequence or structural similarity. Source: BHF-UCL

left/right pattern formation

Inferred from Biological aspect of Ancestor. Source: RefGenome

leukocyte migration

Inferred from sequence or structural similarity. Source: BHF-UCL

lung epithelium development

Inferred from expression pattern Ref.1. Source: BHF-UCL

metanephric part of ureteric bud development

Inferred from expression pattern Ref.1. Source: BHF-UCL

negative regulation of B cell activation

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of NF-kappaB transcription factor activity

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of T cell differentiation in thymus

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of T cell proliferation

Inferred from Biological aspect of Ancestor. Source: RefGenome

negative regulation of germinal center formation

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of humoral immune response mediated by circulating immunoglobulin

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of interleukin-6 biosynthetic process

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: BHF-UCL

pattern specification process

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of central B cell tolerance induction

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of lung ciliated cell differentiation

Inferred from direct assay PubMed 20539013. Source: BHF-UCL

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 9096351. Source: BHF-UCL

spermatogenesis

Non-traceable author statement Ref.2. Source: UniProtKB

transcription from RNA polymerase II promoter

Inferred from Biological aspect of Ancestor. Source: GOC

   Cellular_componentnucleus

Inferred from direct assay PubMed 17008636. Source: BHF-UCL

transcription factor complex

Inferred from Biological aspect of Ancestor. Source: RefGenome

   Molecular_functionDNA binding

Non-traceable author statement Ref.2. Source: UniProtKB

DNA binding, bending

Inferred from Biological aspect of Ancestor. Source: RefGenome

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

double-stranded DNA binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

sequence-specific DNA binding transcription factor activity

Non-traceable author statement Ref.2. Source: UniProtKB

transcription factor binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

transcription regulatory region sequence-specific DNA binding

Inferred from direct assay PubMed 9096351. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 421421Forkhead box protein J1
PRO_0000091850

Regions

DNA binding120 – 21091Fork-head

Experimental info

Sequence conflict51W → C in CAA67729. Ref.2
Sequence conflict51W → C in CAA67730. Ref.2
Sequence conflict111A → T in CAA67729. Ref.2
Sequence conflict111A → T in CAA67730. Ref.2
Sequence conflict17 – 226AGPEGG → PAGGR in CAA67729. Ref.2
Sequence conflict561G → A in AAB09039. Ref.1
Sequence conflict2571A → P in CAA67729. Ref.2
Sequence conflict2571A → P in CAA67730. Ref.2
Sequence conflict262 – 28726GWGAG…AKVPR → VWVQARAGWDISPNTLCPRG GQGPA in CAA67729. Ref.2
Sequence conflict3111W → L in AAB09039. Ref.1
Sequence conflict3301L → V in AAB09039. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q92949 [UniParc].

Last modified December 1, 2000. Version 3.
Checksum: A8BB0020CB67F97F

FASTA42145,247
        10         20         30         40         50         60 
MAESWLRLSG AGPAEEAGPE GGLEEPDALD DSLTSLQWLQ EFSILNAKAP ALPPGGTDPH 

        70         80         90        100        110        120 
GYHQVPGSAA PGSPLAADPA CLGQPHTPGK PTSSCTSRSA PPGLQAPPPD DVDYATNPHV 

       130        140        150        160        170        180 
KPPYSYATLI CMAMQASKAT KITLSAIYKW ITDNFCYFRH ADPTWQNSIR HNLSLNKCFI 

       190        200        210        220        230        240 
KVPREKDEPG KGGFWRIDPQ YAERLLSGAF KKRRLPPVHI HPAFARQAAQ EPSAVPRAGP 

       250        260        270        280        290        300 
LTVNTEAQQL LREFEEATGE AGWGAGEGRL GHKRKQPLPK RVAKVPRPPS TLLPTPEEQG 

       310        320        330        340        350        360 
ELEPLKGNFD WEAIFDAGTL GGELGALEAL ELSPPLSPAS HVDVDLTIHG RHIDCPATWG 

       370        380        390        400        410        420 
PSVEQAADSL DFDETFLATS FLQHPWDESG SGCLPPEPLF EAGDATLASD LQDWASVGAF 


L 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS32739.1.
RefSeqNP_001445.2. NM_001454.3.
UniGeneHs.651204.

3D structure databases

ProteinModelPortalQ92949.
SMRQ92949. Positions 121-214.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108591. 7 interactions.
IntActQ92949. 8 interactions.
STRING9606.ENSP00000323880.

Polymorphism databases

DMDM12644465.

Proteomic databases

PaxDbQ92949.
PRIDEQ92949.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000322957; ENSP00000323880; ENSG00000129654.
GeneID2302.
KEGGhsa:2302.
UCSCuc002jqx.3. human.

Organism-specific databases

CTD2302.
GeneCardsGC17M074132.
HGNCHGNC:3816. FOXJ1.
HPAHPA005714.
MIM602291. gene.
607154. phenotype.
neXtProtNX_Q92949.
PharmGKBPA28233.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5025.
HOGENOMHOG000112631.
HOVERGENHBG056832.
InParanoidQ92949.
KOK09402.
OMAWEAIFDA.
OrthoDBEOG7T4MKM.
PhylomeDBQ92949.
TreeFamTF333250.

Gene expression databases

BgeeQ92949.
CleanExHS_FOXJ1.
GenevestigatorQ92949.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
InterProIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSPR00053. FORKHEAD.
SMARTSM00339. FH. 1 hit.
[Graphical view]
PROSITEPS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFOXJ1.
GenomeRNAi2302.
NextBio9347.
PROQ92949.
SOURCESearch...

Entry information

Entry nameFOXJ1_HUMAN
AccessionPrimary (citable) accession number: Q92949
Secondary accession number(s): O00630
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 1, 2000
Last modified: July 9, 2014
This is version 123 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM