Gene Gene information from NCBI Gene database.
Entrez ID 27086
Gene name Forkhead box P1
Gene symbol FOXP1
Synonyms (NCBI Gene)
12CC4HSPC215MFHQRF1hFKH1B
Chromosome 3
Chromosome location 3p13
Summary 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
SNPs SNP information provided by dbSNP.
62
SNP ID Visualize variation Clinical significance Consequence
rs112795301 G>A Pathogenic Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, intron variant
rs200355554 G>C Conflicting-interpretations-of-pathogenicity, likely-benign Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs398124429 ->CTGCTCTGCATGTTTT Pathogenic Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs532329866 G>A Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs587777855 A>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
1587
miRTarBase ID miRNA Experiments Reference
MIRT003088 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT001054 hsa-miR-1-3p qRT-PCRWestern blot 18818206
MIRT001054 hsa-miR-1-3p Luciferase reporter assay 18818206
MIRT001054 hsa-miR-1-3p Luciferase reporter assayWestern blot 18593903
MIRT001054 hsa-miR-1-3p Luciferase reporter assayWestern blot 18593903
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ESR1 Activation 21901488
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001046 Function Core promoter sequence-specific DNA binding IDA 28218735
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605515 3823 ENSG00000114861
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H334
Protein name Forkhead box protein P1 (Mac-1-regulated forkhead) (MFH)
Protein function Transcriptional repressor (PubMed:18347093, PubMed:26647308). Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential (By similarity). Plays an important role in the specification and differentiation of lung epith
PDB 2KIU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16159 FOXP-CC 302 370 FOXP coiled-coil domain Domain
PF00250 Forkhead 464 545 Forkhead domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 8 is specifically expressed in embryonic stem cells. {ECO:0000269|PubMed:21924763}.
Sequence
MMQESGTETKSNGSAIQNGSGGSNHLLECGGLREGRSNGETPAVDIGAADLAHAQQQQQQ
ALQVARQLLLQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQV
LSPQQLQVLLQQQQALMLQQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQVATQQLA
FQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHT
AEETTGNNHSSLDLTTTCVSSSAPSKTSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSH
PLYGHGVCKWPGCEAVCEDFQSFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKE
RLQAMMTHLH
VKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQG
PSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILE
SPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVE
FQKRR
PQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGNLAS
AIREELNGAMEHTNSNESDSSPGRSPMQAVHPVHVKEEPLDPEEAEGPLSLVTTANHSPD
FDHDRDYEDEPVNEDME
Sequence length 677
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MicroRNAs in cancer   Transcriptional regulation of pluripotent stem cells
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
330
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely pathogenic rs2545119133 RCV005931099
Anterior creases of earlobe Likely pathogenic rs1057518926 RCV000414948
Autism Likely pathogenic; Pathogenic rs1057518999, rs1559619762 RCV000414900
RCV000714977
Cerebellar vermis hypoplasia Pathogenic rs1553709881 RCV000779638
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aortic valve atresia Benign; Likely benign rs147674680 RCV000049262
Atrial septal defect 1 Uncertain significance rs2034683194 RCV001528148
Autism spectrum disorder Conflicting classifications of pathogenicity rs2037908174 RCV003127807
Colon adenocarcinoma Conflicting classifications of pathogenicity rs794727216 RCV005889813
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 22521361
Abnormalities Multiple Associate 37895307
Adenocarcinoma Associate 22491060, 25447851, 26383589
Adenocarcinoma of Lung Associate 23874428, 29934982, 32633368, 32744429
Allan Herndon Dudley syndrome Associate 26195723
Allanson Pantzar McLeod syndrome Associate 30181650
Ameloblastoma Associate 31895100
Anorexia Nervosa Associate 27483138
Apraxias Associate 20848658, 25853299, 36553628
Arnold Chiari Malformation Associate 20571508