Hs01409144_cn

• Gene Symbol: NR5A1
• Assay Reference Genome Location: Chr.9:124481758 on build GRCh38
• Cytoband: 9q33.3

Target Gene Details

• Entrez Gene ID: 2516
• Gene Name: nuclear receptor subfamily 5 group A member 1
• Gene Aliases: AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXY3, hSF-1
• Location: Chr.9:124481234-124507420 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NR5A1	NM_004959.4	7	2573	NP_004950.2
	XM_005251871.3	7	2601	XP_005251928.1
	XM_011518455.2	7	2451	XP_011516757.1
	AK090858.1	2	2019
	BC032501.1	7	2573	AAH32501.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv526209	Chr.9:124470928 - 124531906 on Build GRCh38	Gain	NR6A1 NR5A1 ADGRD2
nsv950942	Chr.9:124466322 - 124513521 on Build GRCh38	Deletion	NR5A1 ADGRD2
esv3621722	Chr.9:124378965 - 124497390 on Build GRCh38	Gain	PSMB7 NR5A1 ADGRD2
nsv466559	Chr.9:124467839 - 124526939 on Build GRCh38	Loss	NR6A1 NR5A1 ADGRD2
nsv466558	Chr.9:124464413 - 124557925 on Build GRCh38	Loss	NR6A1 NR5A1 ADGRD2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

C4 zinc finger nuclear receptor

Gene Ontology Categories:

Process(es)

luteinization
transcription initiation from RNA polymerase II promoter
cell-cell signaling
primary sex determination
male gonad development
hormone-mediated signaling pathway
tissue development
multicellular organism aging
cell differentiation
adrenal gland development
intracellular receptor signaling pathway
hormone metabolic process
steroid hormone mediated signaling pathway
positive regulation of transcription from RNA polymerase II promoter
regulation of steroid biosynthetic process
maintenance of protein location in nucleus
positive regulation of male gonad development
negative regulation of female gonad development

Function(s)

transcription regulatory region sequence-specific DNA binding
RNA polymerase II distal enhancer sequence-specific DNA binding
DNA binding
chromatin binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
steroid hormone receptor activity
transcription coactivator activity
RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding
protein binding
phospholipid binding
zinc ion binding
enzyme binding