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LOC108410393 NR0B1 5' regulatory region [ Homo sapiens (human) ]

Gene ID: 108410393, updated on 14-Mar-2024

Summary

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Gene symbol
LOC108410393
Gene description
NR0B1 5' regulatory region
Gene type
biological region
Feature type(s)
misc_feature: conserved_region
protein_bind
regulatory: TATA_box, enhancer, promoter, transcriptional_cis_regulatory_region
repeat_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region encompasses the promoter and other 5' proximal regulatory elements of the NR0B1 (nuclear receptor subfamily 0 group B member 1, also known as DAX1) gene. This sequence is induced by binding by Nr5a1/Sf1 (nuclear receptor subfamily 5 group A member 1) and EWS/FL1 (EWS RNA binding protein 1). [provided by RefSeq, Aug 2016]
Orthologs
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Genomic context

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Location:
chromosome: X
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (30309364..30314190)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (29901626..29906448)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (30327481..30332307)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chrX:30274564-30274739 Neighboring gene MAGE family member B4 Neighboring gene MAGE family member B1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:30300409-30300510 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:30301194-30302393 Neighboring gene CRISPRi-validated cis-regulatory element chrX.505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:30326716-30327216 Neighboring gene phospholipase C epsilon 1 pseudogene 1 Neighboring gene nuclear receptor subfamily 0 group B member 1 Neighboring gene NANOG hESC enhancer GRCh37_chrX:30472541-30473099 Neighboring gene NANOG hESC enhancer GRCh37_chrX:30517192-30517733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29509 Neighboring gene TLR adaptor interacting with endolysosomal SLC15A4 Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 6

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. DAX1 gene expression upregulated by steroidogenic factor 1 in an adrenocortical carcinoma cell line. Vilain E, et al. Biochem Mol Med, 1997 Jun. PMID 9232190
  2. X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene. Skinningsrud B, et al. J Clin Endocrinol Metab, 2009 Oct. PMID 19773398
  3. DAX1, a direct target of EWS/FLI1 oncoprotein, is a principal regulator of cell-cycle progression in Ewing's tumor cells. García-Aragoncillo E, et al. Oncogene, 2008 Oct 9. PMID 18591936
  4. The Wilms' tumor suppressor gene (wt1) product regulates Dax-1 gene expression during gonadal differentiation. Kim J, et al. Mol Cell Biol, 1999 Mar. PMID 10022915, Free PMC Article
  5. Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Guo W, et al. J Clin Endocrinol Metab, 1996 Jul. PMID 8675564

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Homology

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.

Genomic

  1. NG_051300.1 

    Range
    101..4927
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    30309364..30314190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    29901626..29906448
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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