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FOXN3 forkhead box N3 [ Homo sapiens (human) ]

Gene ID: 1112, updated on 10-Oct-2019

Summary

Official Symbol
FOXN3provided by HGNC
Official Full Name
forkhead box N3provided by HGNC
Primary source
HGNC:HGNC:1928
See related
Ensembl:ENSG00000053254 MIM:602628
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
CHES1; PRO1635; C14orf116
Summary
This gene is a member of the forkhead/winged helix transcription factor family. Checkpoints are eukaryotic DNA damage-inducible cell cycle arrests at G1 and G2. Checkpoint suppressor 1 suppresses multiple yeast checkpoint mutations including mec1, rad9, rad53 and dun1 by activating a MEC1-independent checkpoint pathway. Alternative splicing is observed at the locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in fat (RPKM 25.7), ovary (RPKM 24.3) and 25 other tissues See more
Orthologs

Genomic context

See FOXN3 in Genome Data Viewer
Location:
14q31.3-q32.11
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (89156177..89619165, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (89622516..90085506, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370615 Neighboring gene metallophosphoesterase 1 pseudogene 1 Neighboring gene cyclase associated actin cytoskeleton regulatory protein 2 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 10244 Neighboring gene uncharacterized LOC101928817 Neighboring gene uncharacterized LOC107984635 Neighboring gene FOXN3 antisense RNA 1 Neighboring gene FOXN3 antisense RNA 2 Neighboring gene uncharacterized LOC105370617 Neighboring gene uncharacterized LOC105370616 Neighboring gene RN7SK pseudogene 107

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

NHGRI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA Catalog
Weight loss after gastric bypass is associated with a variant at 15q26.1.
NHGRI GWA Catalog

Pathways from BioSystems

  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
craniofacial suture morphogenesis IEA
Inferred from Electronic Annotation
more info
 
mitotic G2 DNA damage checkpoint IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IC
Inferred by Curator
more info
PubMed 

General protein information

Preferred Names
forkhead box protein N3
Names
checkpoint suppressor 1

NCBI Reference Sequences (RefSeq)

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_001085471.2NP_001078940.1  forkhead box protein N3 isoform 1

    See identical proteins and their annotated locations for NP_001078940.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI084011, AL137230, AL138478, BP213901, U68723
    Consensus CDS
    CCDS41977.1
    UniProtKB/Swiss-Prot
    O00409
    UniProtKB/TrEMBL
    A0A024R6I1
    Related
    ENSP00000343288.4, ENST00000345097.8
    Conserved Domains (1) summary
    pfam00250
    Location:114201
    Forkhead; Forkhead domain
  2. NM_005197.4NP_005188.2  forkhead box protein N3 isoform 2

    See identical proteins and their annotated locations for NP_005188.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon and differs in the 5' UTR, compared to variant 1, resulting in a shorter protein (isoform 2).
    Source sequence(s)
    AI084011, AL138478, AL356805, BC007506, CB989352
    Consensus CDS
    CCDS32138.1
    UniProtKB/Swiss-Prot
    O00409
    Related
    ENSP00000452005.1, ENST00000557258.5
    Conserved Domains (1) summary
    pfam00250
    Location:114200
    Forkhead; Forkhead domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    89156177..89619165 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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