FOXR1 forkhead box R1 [Homo sapiens (human)] - Gene

Summary

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

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
FOXR1 expression is activated by chromosome 11q23 aberrations in B-cell lymphoma.
Title: Chromosome 11q23 aberrations activating FOXR1 in B-cell lymphoma.
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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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)

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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

118971761..118981287

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017017575.2 → XP_016873064.1 forkhead box protein R1 isoform X1
XM_017017576.2 → XP_016873065.1 forkhead box protein R1 isoform X2
XM_047426801.1 → XP_047282757.1 forkhead box protein R1 isoform X3

UniProtKB/TrEMBL

B0YJ16

Related

ENSP00000432358.1, ENST00000533282.1

Reference GRCh38.p14 PATCHES

Genomic

NW_009646203.1 Reference GRCh38.p14 PATCHES

Range

382..2887

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

118992171..119001685

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368476.1 → XP_054224451.1 forkhead box protein R1 isoform X1
XM_054368477.1 → XP_054224452.1 forkhead box protein R1 isoform X2
XM_054368478.1 → XP_054224453.1 forkhead box protein R1 isoform X3

UniProtKB/TrEMBL

B0YJ16