Human Gene FOXP1 (ENST00000318779.7) Description and Page Index
Description: Homo sapiens forkhead box P1 (FOXP1), transcript variant 2, mRNA. (from RefSeq NM_001012505) RefSeq Summary (NM_001012505): 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]. Gencode Transcript: ENST00000318779.7 Gencode Gene: ENSG00000114861.20 Transcript (Including UTRs) Position: hg38 chr3:71,197,882-71,583,939 Size: 386,058 Total Exon Count: 7 Strand: - Coding Region Position: hg38 chr3:71,197,904-71,198,381 Size: 478 Coding Exon Count: 2
ID:FOXP1_HUMAN DESCRIPTION: RecName: Full=Forkhead box protein P1; FUNCTION: Transcriptional repressor. It plays an important role in the specification and differentiation of lung epithelium. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Essential transcriptional regulator of B-cell development (By similarity). SUBUNIT: Forms homodimers and heterodimers with FOXP2 and FOXP4. Dimerization is required for DNA-binding. Interacts with CTBP1 (By similarity). SUBCELLULAR LOCATION: Nucleus (Probable). DOMAIN: The leucine-zipper is required for dimerization and transcriptional repression (By similarity). DISEASE: Note=A chromosomal aberration involving FOXP1 is found in acute lymphoblastic leukemia. Translocation t(9;3)(p13;p14.1) with PAX5. DISEASE: Defects in FOXP1 are the cause of mental retardation with language impairment and autistic features (MRLIAF) [MIM:613670]. It is a developmental disorder characterized by mild to moderate mental retardation, language impairment, and autistic features. Patients show global delay, delayed walking, severely delayed speech development, and behavioral abnormalities, including irritability, hyperactivity, aggression, and stereotypical rigid behaviors. SIMILARITY: Contains 1 C2H2-type zinc finger. SIMILARITY: Contains 1 fork-head DNA-binding domain. SEQUENCE CAUTION: Sequence=AAF36135.1; Type=Frameshift; Positions=531, 545; Sequence=ABI33105.1; Type=Erroneous initiation; Sequence=BAB55005.1; Type=Erroneous initiation; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/FOXP1ID40632ch3p14.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9H334
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.