Q92949 (FOXJ1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	FOXJ1
Synonyms:	FKHL13, HFH4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	421 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	actin 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 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 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
Cellular_component	transcription factor complex Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular_function	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 protein domain specific binding Inferred from Biological aspect of Ancestor. Source: RefGenome 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 421	421	Forkhead box protein J1		PRO_0000091850
Regions
	DNA binding	120 – 210	91	Fork-head
Experimental info
	Sequence conflict	5	1	W → C in CAA67729. Ref.2
	Sequence conflict	5	1	W → C in CAA67730. Ref.2
	Sequence conflict	11	1	A → T in CAA67729. Ref.2
	Sequence conflict	11	1	A → T in CAA67730. Ref.2
	Sequence conflict	17 – 22	6	AGPEGG → PAGGR in CAA67729. Ref.2
	Sequence conflict	56	1	G → A in AAB09039. Ref.1
	Sequence conflict	257	1	A → P in CAA67729. Ref.2
	Sequence conflict	257	1	A → P in CAA67730. Ref.2
	Sequence conflict	262 – 287	26	GWGAG…AKVPR → VWVQARAGWDISPNTLCPRG GQGPA in CAA67729. Ref.2
	Sequence conflict	311	1	W → L in AAB09039. Ref.1
	Sequence conflict	330	1	L → V in AAB09039. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q92949 [UniParc]. Last modified December 1, 2000. Version 3. Checksum: A8BB0020CB67F97F	FASTA	421	45,247
	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

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00024319.
RefSeq	NP_001445.2. NM_001454.3.
UniGene	Hs.651204.
3D structure databases
ProteinModelPortal	Q92949.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92949. 8 interactions.
STRING	9606.ENSP00000323880.
Polymorphism databases
DMDM	12644465.
Proteomic databases
PaxDb	Q92949.
PRIDE	Q92949.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000322957; ENSP00000323880; ENSG00000129654.
GeneID	2302.
KEGG	hsa:2302.
UCSC	uc002jqx.3. human.
Organism-specific databases
CTD	2302.
GeneCards	GC17M074132.
HGNC	HGNC:3816. FOXJ1.
HPA	HPA005714.
MIM	602291. gene. 607154. phenotype.
neXtProt	NX_Q92949.
PharmGKB	PA28233.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5025.
HOGENOM	HOG000112631.
HOVERGEN	HBG056832.
InParanoid	Q92949.
KO	K09402.
OMA	PVHIHPA.
OrthoDB	EOG40CHH5.
PhylomeDB	Q92949.
Gene expression databases
Bgee	Q92949.
CleanEx	HS_FOXJ1.
Genevestigator	Q92949.
GermOnline	ENSG00000129654. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.10. 1 hit.
InterPro	IPR001766. TF_fork_head. IPR018122. TF_fork_head_CS. IPR011991. WHTH_DNA-bd_dom. [Graphical view]
Pfam	PF00250. Fork_head. 1 hit. [Graphical view]
PRINTS	PR00053. FORKHEAD.
SMART	SM00339. FH. 1 hit. [Graphical view]
PROSITE	PS00657. FORK_HEAD_1. 1 hit. PS00658. FORK_HEAD_2. 1 hit. PS50039. FORK_HEAD_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	2302.
NextBio	9347.
SOURCE	Search...

Entry information

Entry name

FOXJ1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 115 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.