Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27086
Gene name Gene Name - the full gene name approved by the HGNC.
Forkhead box P1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FOXP1
Synonyms (NCBI Gene) Gene synonyms aliases
12CC4, HSPC215, MFH, QRF1, hFKH1B
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT003088 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR 19296470
MIRT001054 hsa-miR-1-3p qRT-PCR, Western blot 18818206
MIRT001054 hsa-miR-1-3p Luciferase reporter assay 18818206
MIRT001054 hsa-miR-1-3p Luciferase reporter assay, Western blot 18593903
MIRT001054 hsa-miR-1-3p Luciferase reporter assay, Western blot 18593903
Transcription factors
Transcription factor Regulation Reference
ESR1 Activation 21901488
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605515 3823 ENSG00000114861
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome intellectual disability-severe speech delay-mild dysmorphism syndrome rs775136381, rs1559620376, rs587777855, rs1575803923, rs1057524152, rs1559617016, rs797044652, rs769448730, rs1064793130, rs1559621862, rs797045586, rs1135401796, rs1559650552, rs763837297, rs1576373932
View all (16 more)
N/A
Mental retardation intellectual disability rs797045586, rs1576028676, rs869025202 N/A
autism Autism rs1057518999 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Actinic keratosis Actinic keratosis N/A N/A GWAS
Anorexia Anorexia nervosa N/A N/A GWAS
Asthma Asthma N/A N/A GWAS
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Associations from Text Mining Disease 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