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    FOXR1 forkhead box R1 [ Homo sapiens (human) ]

    Gene ID: 283150, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FOXR1provided by HGNC
    Official Full Name
    forkhead box R1provided by HGNC
    Primary source
    HGNC:HGNC:29980
    See related
    Ensembl:ENSG00000176302 MIM:615755; AllianceGenome:HGNC:29980
    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
    FOXN5; DLNB13
    Summary
    This gene encodes a member of the forkhead box (FOX) family of transcription factors. FOX family members are monomeric, helix-turn-helix proteins with a core DNA-binding domain of approximately 110 aa. Many FOX transcription factors play roles in determining cell fates during early development. This forkhead box protein lacks the C-terminal basic region found in many other FOX family members. It is located within the 11q23.3 region which is commonly deleted in neuroblastomas. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 1.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See FOXR1 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (118971761..118981287)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (118992171..119001685)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118842471..118851997)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 688, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118810343-118811124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118811125-118811904 Neighboring gene uroplakin 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:118842491-118842991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118850851-118851369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118851370-118851887 Neighboring gene uncharacterized LOC124902768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:118868291-118868816 Neighboring gene CENATAC divergent transcript

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Chromosome 11q23 aberrations activating FOXR1 in B-cell lymphoma. Pommerenke C, et al. Blood Cancer J, 2016 Jun 10. PMID 27284737, Free PMC Article
    2. Oncogenic activation of FOXR1 by 11q23 intrachromosomal deletion-fusions in neuroblastoma. Santo EE, et al. Oncogene, 2012 Mar 22. PMID 21860421
    3. Identification and characterization of human FOXN5 and rat Foxn5 genes in silico. Katoh M, et al. Int J Oncol, 2004 May. PMID 15067358
    4. FOXR1 regulates stress response pathways and is necessary for proper brain development. Mota A, et al. PLoS Genet, 2021 Nov. PMID 34723967, Free PMC Article
    5. Human FOX gene family (Review). Katoh M, et al. Int J Oncol, 2004 Nov. PMID 15492844

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FOXR1 regulates stress response pathways and is necessary for proper brain development.
      Title: FOXR1 regulates stress response pathways and is necessary for proper brain development.
    2. FOXR1 expression is activated by chromosome 11q23 aberrations in B-cell lymphoma.
      Title: Chromosome 11q23 aberrations activating FOXR1 in B-cell lymphoma.
    3. FOXR1 is recurrently activated in neuroblastoma by intrachromosomal deletion/fusion events, resulting in overexpression of fusion transcripts
      Title: Oncogenic activation of FOXR1 by 11q23 intrachromosomal deletion-fusions in neuroblastoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC149486

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in brain development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    forkhead box protein R1
    Names
    forkhead box protein N5

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_181721.3 → NP_859072.1  forkhead box protein R1

      See identical proteins and their annotated locations for NP_859072.1

      Status: REVIEWED

      Source sequence(s)
      AB094092, AP003392, BC038969
      Consensus CDS
      CCDS31688.1
      UniProtKB/Swiss-Prot
      B0YJ15, Q08AS8, Q6PIV2, Q86UT9, Q8IXX2
      Related
      ENSP00000314806.3, ENST00000317011.8
      Conserved Domains (1) summary
      pfam00250
      Location:173 → 261
      Forkhead; Forkhead domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      118971761..118981287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017575.2 → XP_016873064.1  forkhead box protein R1 isoform X1

    2. XM_017017576.2 → XP_016873065.1  forkhead box protein R1 isoform X2

    3. XM_047426801.1 → XP_047282757.1  forkhead box protein R1 isoform X3

      UniProtKB/TrEMBL
      B0YJ16, H0YCU3
      Related
      ENSP00000432358.1, ENST00000533282.1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_009646203.1 Reference GRCh38.p14 PATCHES

      Range
      382..2887
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      118992171..119001685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368476.1 → XP_054224451.1  forkhead box protein R1 isoform X1

    2. XM_054368477.1 → XP_054224452.1  forkhead box protein R1 isoform X2

    3. XM_054368478.1 → XP_054224453.1  forkhead box protein R1 isoform X3

      UniProtKB/TrEMBL
      B0YJ16, H0YCU3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PIV2.2 GenPept UniProtKB/Swiss-Prot:Q6PIV2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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