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    FOXP1 forkhead box P1 [ Homo sapiens (human) ]

    Gene ID: 27086, updated on 8-Jul-2021

    Summary

    Official Symbol
    FOXP1provided by HGNC
    Official Full Name
    forkhead box P1provided by HGNC
    Primary source
    HGNC:HGNC:3823
    See related
    Ensembl:ENSG00000114861 MIM:605515
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MFH; QRF1; 12CC4; hFKH1B; HSPC215
    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. 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]
    Expression
    Ubiquitous expression in lung (RPKM 7.3), ovary (RPKM 7.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FOXP1 in Genome Data Viewer
    Location:
    3p13
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (70954708..71583978, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (71003859..71633129, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene high mobility group box 1 pseudogene 36 Neighboring gene RNA, U6 small nuclear 281, pseudogene Neighboring gene VISTA enhancer hs864 Neighboring gene VISTA enhancer hs965 Neighboring gene VISTA enhancer hs1092 Neighboring gene VISTA enhancer hs630 Neighboring gene VISTA enhancer hs187 Neighboring gene FOXP1 antisense RNA 1 Neighboring gene VISTA enhancer hs1116 Neighboring gene VISTA enhancer hs1149 Neighboring gene Sharpr-MPRA regulatory region 11865 Neighboring gene microRNA 1284 Neighboring gene uncharacterized LOC105377155 Neighboring gene Sharpr-MPRA regulatory region 3624 Neighboring gene eukaryotic translation initiation factor 4E family member 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
    GeneReviews: Not available
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    GeneReviews: Not available
    Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
    GeneReviews: Not available
    Genome-wide association study and meta-analysis of intraocular pressure.
    GeneReviews: Not available
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    GeneReviews: Not available
    Impact of ancestry and common genetic variants on QT interval in African Americans.
    GeneReviews: Not available
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    GeneReviews: Not available
    Mental retardation with language impairment and with or without autistic features
    MedGen: C4013764 OMIM: 613670 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-01-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-01-22)

    ClinGen Genome Curation PagePubMed

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ23741, MGC12942, MGC88572, MGC99551

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in T follicular helper cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endothelial cell activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in macrophage activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in monocyte activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of B cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of androgen receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in osteoclast development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in osteoclast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of B cell receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-21 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of smooth muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of chemokine (C-X-C motif) ligand 2 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of defense response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of endothelial tube morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of interleukin-1 beta production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of interleukin-12 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of macrophage colony-stimulating factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of monocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    forkhead box protein P1
    Names
    fork head-related protein like B
    glutamine-rich factor 1
    mac-1-regulated forkhead

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028243.1 RefSeqGene

      Range
      5001..634276
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001012505.2NP_001012523.1  forkhead box protein P1 isoform b

      See identical proteins and their annotated locations for NP_001012523.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' exons but has an alternate exon in the 3' end, compared to variant 1. The encoded isoform b (previously called isoform 2) has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC097634, BC005055, BC068481
      Consensus CDS
      CCDS33785.1
      UniProtKB/Swiss-Prot
      Q9H334
      Related
      ENSP00000318721.3, ENST00000318779.7
    2. NM_001244808.3NP_001231737.1  forkhead box protein P1 isoform c

      See identical proteins and their annotated locations for NP_001231737.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (c, previously called 3) has the same N- and C-termini but is 1 aa shorter compared to isoform a.
      Source sequence(s)
      AC103586, AK122710, BC068481, GD144178
      Consensus CDS
      CCDS58839.1
      UniProtKB/Swiss-Prot
      Q9H334
      Related
      ENSP00000418524.1, ENST00000493089.7
      Conserved Domains (3) summary
      COG5025
      Location:437650
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:302369
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:463544
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)
    3. NM_001244810.2NP_001231739.1  forkhead box protein P1 isoform d

      See identical proteins and their annotated locations for NP_001231739.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon but contains another compared to variant 1. The resulting isoform (d, previously called 4) has the same N- and C-termini but is longer compared to isoform a. This variant encodes the longest isoform, which has been shown to enhance embryonic stem (ES) cell pluripotency and repress ES cell differentiation.
      Source sequence(s)
      AC097634, AC103586, AK122710, BC054505, BC068481, GD144178
      Consensus CDS
      CCDS74964.1
      UniProtKB/Swiss-Prot
      Q9H334
      Related
      ENSP00000484803.1, ENST00000615603.4
      Conserved Domains (2) summary
      pfam16159
      Location:302369
      FOXP-CC; FOXP coiled-coil domain
      cl00061
      Location:464545
      FH_FOX; Forkhead (FH) domain found in Forkhead box (FOX) family of transcription factors and similar proteins
    4. NM_001244812.3NP_001231741.1  forkhead box protein P1 isoform e

      See identical proteins and their annotated locations for NP_001231741.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate in-frame segment compared to variant 1. The resulting isoform (e, previously called 5) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AA380962, AC103586, AC104442, AK092383, GD144178
      Consensus CDS
      CCDS58838.1
      UniProtKB/Swiss-Prot
      Q9H334
      Related
      ENSP00000417857.1, ENST00000484350.5
      Conserved Domains (3) summary
      COG5025
      Location:361575
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:226293
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:388469
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)
    5. NM_001244813.3NP_001231742.1  forkhead box protein P1 isoform f

      See identical proteins and their annotated locations for NP_001231742.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (f, previously called 6) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC097632, AC103586, AK074569, GD144178
      Consensus CDS
      CCDS74963.1
      UniProtKB/TrEMBL
      A0A0B4J2F3, Q8N2P0
      Related
      ENSP00000497567.1, ENST00000650387.1
      Conserved Domains (3) summary
      COG5025
      Location:337551
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:202269
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:364445
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)
    6. NM_001244814.3NP_001231743.1  forkhead box protein P1 isoform a

      See identical proteins and their annotated locations for NP_001231743.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1, 7, 9, 11 and 13 all encode the same isoform (a).
      Source sequence(s)
      AC097632, AC103586, AK074321, DA518749, GD144178
      Consensus CDS
      CCDS2914.1
      UniProtKB/Swiss-Prot
      Q9H334
      UniProtKB/TrEMBL
      Q548T7, Q8TEA2
      Related
      ENSP00000418102.1, ENST00000498215.6
      Conserved Domains (3) summary
      COG5025
      Location:437651
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:302369
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:464545
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)
    7. NM_001244815.2NP_001231744.2  forkhead box protein P1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC103586, AK027264, DA634017, GD144178
      Consensus CDS
      CCDS58837.1
      Related
      ENSP00000496841.2, ENST00000649695.2
      Conserved Domains (3) summary
      COG5025
      Location:337551
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:202269
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:364445
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)
    8. NM_001244816.2NP_001231745.1  forkhead box protein P1 isoform a

      See identical proteins and their annotated locations for NP_001231745.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. Variants 1, 7, 9, 11 and 13 all encode the same isoform (a).
      Source sequence(s)
      AC103586, AF250920, GD144178
      Consensus CDS
      CCDS2914.1
      UniProtKB/Swiss-Prot
      Q9H334
      UniProtKB/TrEMBL
      Q548T7
      Related
      ENSP00000419393.1, ENST00000475937.5
      Conserved Domains (3) summary
      COG5025
      Location:437651
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:302369
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:464545
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)
    9. NM_001349337.2NP_001336266.2  forkhead box protein P1 isoform i

      Status: REVIEWED

      Source sequence(s)
      AC097632, AC103586
      Related
      ENSP00000420736.3, ENST00000491238.7
      Conserved Domains (3) summary
      COG5025
      Location:336550
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:201268
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:363444
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)
    10. NM_001349338.3NP_001336267.1  forkhead box protein P1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 1, 7, 9, and 13, encodes isoform a.
      Source sequence(s)
      AC097632, AC097634, AC103586, AC104442, AC104645, AC138058
      Consensus CDS
      CCDS2914.1
      Related
      ENSP00000497369.1, ENST00000649528.3
      Conserved Domains (3) summary
      COG5025
      Location:437651
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:302369
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:464545
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)
    11. NM_001349340.3NP_001336269.1  forkhead box protein P1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 1, 7, 9, and 11 encodes isoform a.
      Source sequence(s)
      AC097632, AC097634, AC103586, AC104442, AC104645, AC138058
      Consensus CDS
      CCDS2914.1
      Related
      ENSP00000496990.1, ENST00000649631.1
      Conserved Domains (3) summary
      COG5025
      Location:437651
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:302369
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:464545
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)
    12. NM_001349341.3NP_001336270.1  forkhead box protein P1 isoform j

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) encodes isoform j.
      Source sequence(s)
      AC097632, AC097634, AC103586, AC104442, AC104645, AC138058
      Related
      ENSP00000497430.1, ENST00000648710.1
      Conserved Domains (3) summary
      COG5025
      Location:436650
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:301368
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:463544
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)
    13. NM_001349342.3NP_001336271.1  forkhead box protein P1 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variant 6, encodes isoform f.
      Source sequence(s)
      AC097632, AC103586
      Consensus CDS
      CCDS74963.1
      Related
      ENSP00000496968.1, ENST00000649592.1
      Conserved Domains (3) summary
      COG5025
      Location:337551
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:202269
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:364445
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)
    14. NM_001349343.3NP_001336272.1  forkhead box protein P1 isoform i

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variant 17, encodes isoform i.
      Source sequence(s)
      AC097632, AC103586
      Related
      ENSP00000497435.1, ENST00000648794.1
      Conserved Domains (3) summary
      COG5025
      Location:336550
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:201268
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:363444
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)
    15. NM_001349344.3NP_001336273.1  forkhead box protein P1 isoform i

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variant 16, encodes isoform i.
      Source sequence(s)
      AC097632, AC103586
      Related
      ENSP00000482847.2, ENST00000614176.5
      Conserved Domains (3) summary
      COG5025
      Location:336550
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:201268
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:363444
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)
    16. NM_001370548.1NP_001357477.1  forkhead box protein P1 isoform k

      Status: REVIEWED

      Source sequence(s)
      AC097632, AC103586
      Related
      ENSP00000497077.2, ENST00000648748.2
      Conserved Domains (3) summary
      COG5025
      Location:337550
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:202269
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:363444
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)
    17. NM_032682.6NP_116071.2  forkhead box protein P1 isoform a

      See identical proteins and their annotated locations for NP_116071.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform a (previously called isoform 1). Variants 1, 7, 9, 11 and 13 all encode the same isoform (a).
      Source sequence(s)
      AC097634, AC103586, AK122710, BC068481
      Consensus CDS
      CCDS2914.1
      UniProtKB/Swiss-Prot
      Q9H334
      UniProtKB/TrEMBL
      Q548T7
      Related
      ENSP00000318902.5, ENST00000318789.10
      Conserved Domains (3) summary
      COG5025
      Location:437651
      COG5025; Transcription factor of the Forkhead/HNF3 family [Transcription]
      pfam16159
      Location:302369
      FOXP-CC; FOXP coiled-coil domain
      cd20065
      Location:464545
      FH_FOXP2; Forkhead (FH) domain found in Forkhead box protein P2 (FOXP2)

    RNA

    1. NR_146142.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC097632, AC097634, AC103586, AC104442, AC104645, AC138058
    2. NR_146143.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC097632, AC097634, AC103586, AC104442, AC104645, AC138058

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      70954708..71583978 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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