Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. [provided by RefSeq, Jul 2008]
FOXA1 (Forkhead Box A1) is a Protein Coding gene. Diseases associated with FOXA1 include Estrogen-Receptor Negative Breast Cancer and Estrogen-Receptor Positive Breast Cancer. Among its related pathways are FOXA1 transcription factor network and FOXA2 and FOXA3 transcription factor networks. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is FOXA2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 16087863 |
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 | IEA,IDA | 9931457 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0001650 | fibrillar center | IDA | -- |
GO:0005634 | nucleus | IBA,IDA | 9931457 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005902 | microvillus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mesodermal Commitment Pathway | ||
2 | FOXA1 transcription factor network | ||
3 | Glucose / Energy Metabolism | ||
4 | Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers | ||
5 | Direct p53 effectors |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006338 | chromatin remodeling | IEA,ISS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA,IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FOXA1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Foxa1 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FOXA1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Foxa1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | FOXA1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FOXA1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FOXA1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | foxa1 30 |
|
||
Hnf3a 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | foxa1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | foxa1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | fkh 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
CSA.7421 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
727186 | Benign: not provided | 37,591,563(-) | G/A | SYNONYMOUS_VARIANT | |
728193 | Likely Benign: not provided | 37,592,034(-) | G/A | SYNONYMOUS_VARIANT | |
790373 | Benign: not provided | 37,591,452(-) | C/T | SYNONYMOUS_VARIANT | |
rs33984772 | - | p.Ser448Asn | |||
rs35220193 | - | p.Gly87Glu |
Disorder | Aliases | PubMed IDs |
---|---|---|
estrogen-receptor negative breast cancer |
|
|
estrogen-receptor positive breast cancer |
|
|
miliaria profunda |
|
|
miliaria crystallina |
|
|
luminal breast carcinoma a |
|
|