• Gene id: 2302

Gene Summary

• Gene Symbol: FOXJ1   Gene   UCSC   Ensembl
• Aliases: CILD43, FKHL13, HFH-4, HFH4
• Gene name: forkhead box J1
• Alternate names: forkhead box protein J1, fork head homologue 4, forkhead transcription factor HFH-4, forkhead-like 13, forkhead-related protein FKHL13, hepatocyte nuclear factor 3 forkhead homolog 4,
• Gene location: 17q25.1 (49664833: 49673915)     Exons: 7     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the d
• OMIM: 602291

Protein Summary

• Protein general information: Q92949  
  • Name: Forkhead box protein J1 (Forkhead related protein FKHL13) (Hepatocyte nuclear factor 3 forkhead homolog 4) (HFH 4)
  • Length: 421  
  • Mass: 45247
  • Tissue specificity: Testis, oviduct, lung and brain cortex.
• Sequence:

  MAESWLRLSGAGPAEEAGPEGGLEEPDALDDSLTSLQWLQEFSILNAKAPALPPGGTDPHGYHQVPGSAAPGSPL
  AADPACLGQPHTPGKPTSSCTSRSAPPGLQAPPPDDVDYATNPHVKPPYSYATLICMAMQASKATKITLSAIYKW
  ITDNFCYFRHADPTWQNSIRHNLSLNKCFIKVPREKDEPGKGGFWRIDPQYAERLLSGAFKKRRLPPVHIHPAFA
  RQAAQEPSAVPRAGPLTVNTEAQQLLREFEEATGEAGWGAGEGRLGHKRKQPLPKRVAKVPRPPSTLLPTPEEQG
  ELEPLKGNFDWEAIFDAGTLGGELGALEALELSPPLSPASHVDVDLTIHGRHIDCPATWGPSVEQAADSLDFDET
  FLATSFLQHPWDESGSGCLPPEPLFEAGDATLASDLQDWASVGAFL

• Structural information:
  • Interpro: IPR001766  IPR018122  IPR030456  IPR036388  IPR036390  
  • Prosite: PS00657 PS00658 PS50039
  • CDD: cd00059
  • STRING: ENSP00000323880
• Other Databases: GeneCards:  FOXJ1  Malacards:  FOXJ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0060271	cilium assembly	IMP	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0034613	cellular protein localization	IMP	biological process
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0035082	axoneme assembly	IMP	biological process
GO:0032053	ciliary basal body organization	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090630	activation of GTPase activity	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0050900	leukocyte migration	IEA	biological process
GO:0050869	negative regulation of B cell activation	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0042130	negative regulation of T cell proliferation	IEA	biological process
GO:0033085	negative regulation of T cell differentiation in thymus	IEA	biological process
GO:0030856	regulation of epithelial cell differentiation	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0006959	humoral immune response	IEA	biological process
GO:0002924	negative regulation of humoral immune response mediated by circulating immunoglobulin	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0060972	left/right pattern formation	IEA	biological process
GO:0060429	epithelium development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045409	negative regulation of interleukin-6 biosynthetic process	IEA	biological process
GO:0044458	motile cilium assembly	IEA	biological process
GO:0035089	establishment of apical/basal cell polarity	IEA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0002897	positive regulation of central B cell tolerance induction	IEA	biological process
GO:0002635	negative regulation of germinal center formation	IEA	biological process
GO:0002508	central tolerance induction	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:1901248	positive regulation of lung ciliated cell differentiation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0002924	negative regulation of humoral immune response mediated by circulating immunoglobulin	ISS	biological process
GO:0006959	humoral immune response	ISS	biological process
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0090630	activation of GTPase activity	ISS	biological process
GO:0033085	negative regulation of T cell differentiation in thymus	ISS	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0050869	negative regulation of B cell activation	ISS	biological process
GO:0050900	leukocyte migration	ISS	biological process
GO:0072016	glomerular parietal epithelial cell development	IEP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0002508	central tolerance induction	ISS	biological process
GO:0002635	negative regulation of germinal center formation	ISS	biological process
GO:0002897	positive regulation of central B cell tolerance induction	ISS	biological process
GO:0007389	pattern specification process	ISS	biological process
GO:0007420	brain development	ISS	biological process
GO:0007420	brain development	NAS	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	ISS	biological process
GO:0035089	establishment of apical/basal cell polarity	ISS	biological process
GO:0035502	metanephric part of ureteric bud development	IEP	biological process
GO:0045409	negative regulation of interleukin-6 biosynthetic process	ISS	biological process
GO:0060428	lung epithelium development	IEP	biological process
GO:0060428	lung epithelium development	NAS	biological process
GO:0060429	epithelium development	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	NAS	molecular function
GO:0007283	spermatogenesis	NAS	biological process
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function

Diseases

Associated diseases	References
Allergic rhinitis	KEGG:H01360
Allergic rhinitis	KEGG:H01360
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray