FOXP1

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Forkhead box P1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols FOXP1 ; 12CC4; QRF1; hFKH1B
External IDs OMIM605515 MGI1914004 HomoloGene136512 GeneCards: FOXP1 Gene
Orthologs
Species Human Mouse
Entrez 27086 108655
Ensembl ENSG00000114861 ENSMUSG00000030067
UniProt Q9H334 P58462
RefSeq (mRNA) NM_001012505 NM_001197321
RefSeq (protein) NP_001012523 NP_001184250
Location (UCSC) Chr 3:
71 – 71.63 Mb
Chr 6:
98.93 – 99.52 Mb
PubMed search [1] [2]

Forkhead box protein P1 is a protein that in humans is encoded by the FOXP1 gene. FOXP1 is necessary for the proper development of the brain and lung in mammals. It is a member of the large FOX family of transcription factors.

Function[edit]

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.[1]

Foxp1 is a transcription factor; specifically it is a transcriptional repressor. Fox genes are part of a forkhead DNA-binding domain family. This domain binds to sequences in promoters and enhancers of many genes. Foxp1 regulates a variety of important aspects of development including tissue development of: the lungs, brain, thymus and heart. In the heart Foxp1 has 3 vital roles, these include the regulation of cardiac myocyte maturation and proliferation, outflow tract separation of the pulmonary artery and aorta, and expression of Sox4 in cushions and myocardium. Foxp1 is also an important gene in muscle development of the esophagus and esophageal epithelium. Foxp1 is also an important regulator of lung airway morphogenesis. By knocking out Foxp1 scientists have discovered the importance of this gene in cardiac and lung development. Embryos without Foxp1 have severe defects in cardiac morphogenesis. A few of these defects include myocyte maturation and proliferation defects that cause a thin ventricular myocardial compact zone, non-separation of the pulmonary artery and aorta, and cardiomyocyte proliferation increase and defective differentiation. These defects, caused by Foxp1 inactivation, lead to fetal death.

It was shown that the embryonic stem cell (ESC)-specific isoform of FOXP1 stimulates the expression of transcription factor genes required for pluripotency, including OCT4, NANOG, NR5A2, and GDF3, while concomitantly repressing genes required for ESC differentiation. This isoform also promotes the maintenance of ESC pluripotency and contributes to efficient reprogramming of somatic cells into induced pluripotent stem cells. These results reveal a pivotal role for an Alternative splicing event in the regulation of pluripotency through the control of critical ESC-specific transcriptional programs.[2]

See also[edit]

References[edit]

  1. ^ "Entrez Gene: FOXP1 forkhead box P1". 
  2. ^ Gabut M, Samavarchi-Tehrani P, Wang X, Slobodeniuc V, O'Hanlon D, Sung HK, Alvarez M, Talukder S, Pan Q, Mazzoni EO, Nedelec S, Wichterle H, Woltjen K, Hughes TR, Zandstra PW, Nagy A, Wrana JL, Blencowe BJ (September 2011). "An alternative splicing switch regulates embryonic stem cell pluripotency and reprogramming". Cell 147 (1): 132–46. doi:10.1016/j.cell.2011.08.023. PMID 21924763. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.