Free for academic non-profit institutions. Other users need a Commercial license
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 determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergic rhinitis.[provided by RefSeq, Sep 2009]
FOXJ1 (Forkhead Box J1) is a Protein Coding gene. Diseases associated with FOXJ1 include Ciliary Dyskinesia, Primary, 43 and Primary Ciliary Dyskinesia. Among its related pathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and DNA-binding transcription factor activity, RNA polymerase II-specific. An important paralog of this gene is FOXK2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 9096351 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISS | -- |
GO:0003677 | DNA binding | NAS | 9073514 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 17008636 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
GO:0002508 | central tolerance induction | ISS | -- |
GO:0002635 | negative regulation of germinal center formation | ISS | -- |
GO:0002897 | positive regulation of central B cell tolerance induction | ISS | -- |
GO:0002924 | negative regulation of humoral immune response mediated by circulating immunoglobulin | ISS | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FOXJ1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FOXJ1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FOXJ1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FOXJ1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Foxj1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Foxj1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | FOXJ1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FOXJ1 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | FOXJ1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | foxj1 30 |
|
||
Str.533 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | foxJ1' 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | foxj1a 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FKH1 31 |
|
ManyToMany | |
FKH2 31 33 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
800278 | Pathogenic: CILIARY DYSKINESIA, PRIMARY, 43 | 76,137,718(-) | C/A | NONSENSE | |
800279 | Pathogenic: CILIARY DYSKINESIA, PRIMARY, 43 | 76,137,747(-) | G/GTGCT | FRAMESHIFT_VARIANT | |
800280 | Pathogenic: CILIARY DYSKINESIA, PRIMARY, 43 | 76,137,793(-) | G/A | NONSENSE | |
800281 | Pathogenic: CILIARY DYSKINESIA, PRIMARY, 43 | 76,137,651(-) | TC/T | FRAMESHIFT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
ciliary dyskinesia, primary, 43 |
|
|
primary ciliary dyskinesia |
|
|
obstructive hydrocephalus |
|
|
rhinitis |
|
|
allergic rhinitis |
|
|