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This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. [provided by RefSeq, Nov 2012]
FOXL1 (Forkhead Box L1) is a Protein Coding gene. Diseases associated with FOXL1 include Lymphedema-Distichiasis Syndrome and Hypoplastic Left Heart Syndrome. Among its related pathways are Ectoderm Differentiation. 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 FOXC1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003677 | DNA binding | IDA | 7957066 |
GO:0003700 | DNA-binding transcription factor activity | ISS | -- |
GO:0008301 | DNA binding, bending | NAS | 7957066 |
GO:0043565 | sequence-specific DNA binding | IDA | 7957066 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,IC | 7957066 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ectoderm Differentiation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0007275 | multicellular organism development | NAS | 11078474 |
GO:0007495 | visceral mesoderm-endoderm interaction involved in midgut development | IEA,ISS | -- |
GO:0007507 | heart development | IMP | 21457232 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FOXL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FOXL1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FOXL1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Foxl1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC687553 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | FOXL1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FOXL1 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | FOXL1 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | foxl1 31 |
|
OneToOne | |
zgc63595 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | croc 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs537362211 | Uncertain Significance: not specified | 86,579,181(+) | A/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
lymphedema-distichiasis syndrome |
|
|
hypoplastic left heart syndrome |
|
|
embryoma |
|
|
hypogonadotropic hypogonadism 5 with or without anosmia |
|
|
pancreas, annular |
|
|