Gene table of NR5A1 : nuclear receptor subfamily 5 group A member 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with NR5A1	OMIM link	Number of associated genes	genes
612964	PREMATURE OVARIAN FAILURE 7	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	NR5A1
PS258150	SPERMATOGENIC FAILURE	ClinVar, OMIM, HUMSAVAR	link to OMIM	15	TEX15, KLHL10, SYCP3, ZMYND15, NANOS1, SPATA16, DPY19L2, CATSPER1, AURKC, SEPT12, TAF4B, TEX11, USP9Y, NR5A1, SLC26A8
PS400044	46,XY SEX REVERSAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	9	AKR1C2, AKR1C4, NR0B1, SRY, MAP3K1, CBX2, NR5A1, DHH, ZFPM2

Download the gene annotation in CSV format

Annotation of the gene NR5A1

Associated genes in ENSEMBL

ENSG00000136931

Associated proteins - SwissProt Accession ID

Q13285

Associated PDB IDs

Cytogenetic Band

9q33.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Nuclear Receptor transcription pathway	R-HSA-383280	7.31
Generic Transcription Pathway	R-HSA-212436	3.86
Transcriptional regulation of pluripotent stem cells	R-HSA-452723	7.94
Developmental Biology	R-HSA-1266738	3.48
Gene Expression	R-HSA-74160	2.72

Associated GO terms for Molecular function

GO term	GO ID	GO IC
zinc ion binding	GO:0008270	2.66
signaling receptor activity	GO:0038023	2.49
signal transducer activity	GO:0004871	2.28
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
enzyme binding	GO:0019899	2.27
enhancer sequence-specific DNA binding	GO:0001158	5.36
molecular transducer activity	GO:0060089	2.32
transcription factor activity, direct ligand regulated sequence-specific DNA binding	GO:0098531	5.87
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	GO:0004879	5.87
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
transition metal ion binding	GO:0046914	2.48
phospholipid binding	GO:0005543	3.91
transcription coactivator activity	GO:0003713	4.04
transcription cofactor activity	GO:0003712	3.44
ion binding	GO:0043167	1.36
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
RNA polymerase II distal enhancer sequence-specific DNA binding	GO:0000980	5.58
cation binding	GO:0043169	1.4
regulatory region nucleic acid binding	GO:0001067	3.03
lipid binding	GO:0008289	3.26
enhancer binding	GO:0035326	5.21
transcription regulatory region DNA binding	GO:0044212	3.03
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
nucleic acid binding transcription factor activity	GO:0001071	2.65
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0003705	5.23
steroid hormone receptor activity	GO:0003707	5.66
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
chromatin binding	GO:0003682	3.64
receptor activity	GO:0004872	2.32