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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:71,197,882-71,583,939)mRNA (may differ from genome)Protein (114 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGImyGene2neXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  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";

-  MalaCards Disease Associations
  MalaCards Gene Search: FOXP1
Diseases sorted by gene-association score: mental retardation with language impairment and with or without autistic features* (1550), lymphoma, malt, somatic* (183), mental retardation with language impairment and autistic features* (131), leukemia, acute lymphoblastic 3* (90), relapsed/refractory diffuse large b-cell lymphoma (18), b-cell lymphomas (10), speech disorder (10), testicular lymphoma (9), diffuse large b-cell lymphoma (8), central nervous system lymphoma (8), blepharophimosis (7), speech and communication disorders (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.51 RPKM in Esophagus - Muscularis
Total median expression: 227.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -176.50476-0.371 Picture PostScript Text
3' UTR -0.3022-0.014 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001766 - TF_fork_head
IPR018122 - TF_fork_head_CS
IPR011991 - WHTH_trsnscrt_rep_DNA-bd
IPR015880 - Znf_C2H2-like

Pfam Domains:
PF00250 - Forkhead domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2KIU
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9H334
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0043565 sequence-specific DNA binding
GO:0043621 protein self-association
GO:0046872 metal ion binding
GO:0050681 androgen receptor binding

Biological Process:
GO:0002903 negative regulation of B cell apoptotic process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0010595 positive regulation of endothelial cell migration
GO:0030316 osteoclast differentiation
GO:0032496 response to lipopolysaccharide
GO:0032680 regulation of tumor necrosis factor production
GO:0035019 somatic stem cell population maintenance
GO:0035926 chemokine (C-C motif) ligand 2 secretion
GO:0036035 osteoclast development
GO:0042116 macrophage activation
GO:0042117 monocyte activation
GO:0042118 endothelial cell activation
GO:0045655 regulation of monocyte differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0048661 positive regulation of smooth muscle cell proliferation
GO:0050706 regulation of interleukin-1 beta secretion
GO:0050727 regulation of inflammatory response
GO:0060766 negative regulation of androgen receptor signaling pathway
GO:0061470 T follicular helper cell differentiation
GO:0072619 interleukin-21 secretion
GO:1900424 regulation of defense response to bacterium
GO:1901256 regulation of macrophage colony-stimulating factor production
GO:1901509 regulation of endothelial tube morphogenesis
GO:2001182 regulation of interleukin-12 secretion

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  AF250920 - Homo sapiens 12CC4 mRNA, complete cds.
BC131720 - Homo sapiens forkhead box P1, mRNA (cDNA clone IMAGE:40123493), partial cds.
BC054505 - Homo sapiens forkhead box P1, mRNA (cDNA clone IMAGE:5503553), with apparent retained intron.
BC068481 - Homo sapiens cDNA clone IMAGE:4813876, containing frame-shift errors.
AK122710 - Homo sapiens cDNA FLJ16198 fis, clone CTONG1000220, highly similar to Forkhead box protein P1.
AF146696 - Homo sapiens clone pAB195 FOXP1 (FOXP1) mRNA, complete cds.
AK092383 - Homo sapiens cDNA FLJ35064 fis, clone PEBLM1000147, moderately similar to Glutamine (Q)-rich factor 1, QRF-1.
AX747510 - Sequence 1035 from Patent EP1308459.
BC005055 - Homo sapiens forkhead box P1, mRNA (cDNA clone IMAGE:2823199), complete cds.
BC054815 - Homo sapiens forkhead box P1, mRNA (cDNA clone IMAGE:5017122), complete cds.
BC071893 - Homo sapiens forkhead box P1, mRNA (cDNA clone IMAGE:3537501), complete cds.
BC080521 - Homo sapiens forkhead box P1, mRNA (cDNA clone IMAGE:3537750), complete cds.
AK074321 - Homo sapiens cDNA FLJ23741 fis, clone HEP15377.
BC152752 - Synthetic construct Homo sapiens clone IMAGE:100015965, MGC:184148 forkhead box P1 (FOXP1) mRNA, encodes complete protein.
AB527726 - Synthetic construct DNA, clone: pF1KB6240, Homo sapiens FOXP1 gene for forkhead box P1, without stop codon, in Flexi system.
KU304332 - Homo sapiens clone PR4 cell line THP-1 FOXP1 mRNA, 5' UTR.
KC551794 - Homo sapiens clone PR17 foxp1 mRNA, 5' UTR.
KC551795 - Homo sapiens clone PR25 foxp1 mRNA, 5' UTR.
KJ893597 - Synthetic construct Homo sapiens clone ccsbBroadEn_02991 FOXP1 gene, encodes complete protein.
BT006643 - Homo sapiens forkhead box P1 mRNA, complete cds.
JD039072 - Sequence 20096 from Patent EP1572962.
JD104226 - Sequence 85250 from Patent EP1572962.
JD496102 - Sequence 477126 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H334 (Reactome details) participates in the following event(s):

R-HSA-480204 POU5F1 (OCT4), SOX2, NANOG, KLF4, PBX1, SMAD2 bind the NANOG promoter
R-HSA-1112609 POU5F1 (OCT4), SOX2, NANOG, ZSCAN10, PRDM14, SMAD2, FOXP1-ES bind the POU5F1 (OCT4) promoter
R-HSA-452723 Transcriptional regulation of pluripotent stem cells
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: A3QVP8, FOXP1_HUMAN, HSPC215, NM_001012505, Q9BSG9, Q9H332, Q9H333, Q9H334, Q9P0R1, uc003dos.1, uc003dos.2, uc003dos.3, uc003dos.4
UCSC ID: uc003dos.4
RefSeq Accession: NM_001012505
Protein: Q9H334 (aka FOXP1_HUMAN or FXP1_HUMAN)
CCDS: CCDS33785.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.