• Gene id: 27086

Gene Summary

• Gene Symbol: FOXP1   Gene   UCSC   Ensembl
• Aliases: 12CC4, HSPC215, MFH, QRF1, hFKH1B
• Gene name: forkhead box P1
• Alternate names: forkhead box protein P1, fork head-related protein like B, glutamine-rich factor 1, mac-1-regulated forkhead,
• Gene location: 3p13 (925808: 1012244)     Exons: 24     NC_000011.10
• Gene summary(Entrez): 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. F
• OMIM: 605515

Protein Summary

• Protein general information: Q9H334  
  • Name: Forkhead box protein P1 (Mac 1 regulated forkhead) (MFH)
  • Length: 677  
  • Mass: 75317
  • Tissue specificity: Isoform 8 is specifically expressed in embryonic stem cells. {ECO
• Sequence:

  MMQESGTETKSNGSAIQNGSGGSNHLLECGGLREGRSNGETPAVDIGAADLAHAQQQQQQALQVARQLLLQQQQQ
  QQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQVLLQQQQALMLQQQQLQEFYKKQ
  QEQLQLQLLQQQHAGKQPKEQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIP
  TELQQLWKEVTSAHTAEETTGNNHSSLDLTTTCVSSSAPSKTSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSH
  PLYGHGVCKWPGCEAVCEDFQSFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKERLQAMMTHLHVKSTE
  PKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQGPSVITTTSMHTVGPIRRRYSDKYNVPISSA
  DIAQNQEFYKNAEVRPPFTYASLIRQAILESPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVR
  VENVKGAVWTVDEVEFQKRRPQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGNLAS
  AIREELNGAMEHTNSNESDSSPGRSPMQAVHPVHVKEEPLDPEEAEGPLSLVTTANHSPDFDHDRDYEDEPVNED
  ME

• Structural information:
  • Interpro: IPR001766  IPR032354  IPR030456  IPR036388  IPR036390  
  • Prosite: PS00658 PS50039 PS00028
  • CDD: cd00059
  • PDB: 2KIU
  • PDBsum: 2KIU
  • DIP: 36585
  • STRING: ENSP00000484803
• Other Databases: GeneCards:  FOXP1  Malacards:  FOXP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0050861	positive regulation of B cell receptor signaling pathway	IMP	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0042117	monocyte activation	IDA	biological process
GO:0050706	regulation of interleukin-1 beta secretion	IDA	biological process
GO:0032680	regulation of tumor necrosis factor production	IDA	biological process
GO:0035926	regulation of chemokine (C-X-C motif) ligand 2 production	IDA	biological process
GO:0050727	regulation of inflammatory response	IDA	biological process
GO:1900424	regulation of defense response to bacterium	IDA	biological process
GO:0045655	regulation of monocyte differentiation	IDA	biological process
GO:0050681	androgen receptor binding	IDA	molecular function
GO:0060766	negative regulation of androgen receptor signaling pathway	IDA	biological process
GO:2001182	regulation of interleukin-12 secretion	IDA	biological process
GO:1901256	regulation of macrophage colony-stimulating factor production	IDA	biological process
GO:0032496	response to lipopolysaccharide	IDA	biological process
GO:0042116	macrophage activation	IDA	biological process
GO:0030316	osteoclast differentiation	IDA	biological process
GO:0036035	osteoclast development	IDA	biological process
GO:0002903	negative regulation of B cell apoptotic process	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0010595	positive regulation of endothelial cell migration	IMP	biological process
GO:1901509	regulation of endothelial tube morphogenesis	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0072619	interleukin-21 secretion	ISS	biological process
GO:0061470	T follicular helper cell differentiation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042118	endothelial cell activation	IMP	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043621	protein self-association	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0035019	somatic stem cell population maintenance	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0001046	core promoter sequence-specific DNA binding	IDA	molecular function
GO:0010468	regulation of gene expression	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05206	MicroRNAs in cancer

Diseases

Associated diseases	References
Complex cortical dysplasia with other brain malformations	PMID:22759905
Huntington's disease	PMID:16405510
Congenital heart disease	PMID:23766104
esophagus adenocarcinoma	PMID:26383589
Schizophrenia	PMID:26460480
congestive heart failure	PMID:16952980
Barrett's esophagus	PMID:25447851
Hypoplastic left heart syndrome	PMID:18344372
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq