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This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
FOXP1 (Forkhead Box P1) is a Protein Coding gene. Diseases associated with FOXP1 include Mental Retardation With Language Impairment And With Or Without Autistic Features and Lymphoma, Mucosa-Associated Lymphoid Type. Among its related pathways are Transcriptional regulation of pluripotent stem cells and Developmental Biology. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is ENSG00000285708.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001046 | core promoter sequence-specific DNA binding | IDA | 28218735 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
GO:0005515 | protein binding | IPI | 18347093 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 25027557 |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Wnt / Hedgehog / Notch | ||
2 | MicroRNAs in cancer | ||
3 | Developmental Biology | ||
4 | Transcriptional regulation of pluripotent stem cells |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002903 | negative regulation of B cell apoptotic process | IDA | 25267198 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006974 | cellular response to DNA damage stimulus | IMP | 30111844 |
GO:0010468 | regulation of gene expression | IMP | 28218735 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 25a | · | 25b | ^ | 26a | · | 26b | ^ | 27 |
---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | |||||||||
SP5: | |||||||||
SP6: | |||||||||
SP7: | |||||||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FOXP1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FOXP1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FOXP1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FOXP1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FOXP1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Foxp1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FOXP1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FOXP1 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.33069 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.6946 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | foxp1b 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG16899 32 |
|
|
|
FoxP 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | fkh-8 31 |
|
ManyToMany | |
fkh-7 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
643127 | Likely Pathogenic: not provided | 70,987,993(-) | C/A | SPLICE_DONOR_VARIANT | |
689737 | Pathogenic: Mental retardation with language impairment and with or without autistic features | 71,041,351(-) | TGA/T | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
691264 | Likely Pathogenic: Intellectual disability | 71,001,034(-) | C/G | MISSENSE_VARIANT | |
691269 | Pathogenic: Mental retardation with language impairment and with or without autistic features | 70,970,806(-) | C/T | SPLICE_ACCEPTOR_VARIANT | |
691271 | Pathogenic: Mental retardation with language impairment and with or without autistic features | 70,987,993(-) | C/T | SPLICE_DONOR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation with language impairment and with or without autistic features |
|
|
lymphoma, mucosa-associated lymphoid type |
|
|
autism |
|
|
leukemia, acute lymphoblastic 3 |
|
|
visual epilepsy |
|
|