Gene

NR5A1

nuclear receptor subfamily 5 group A member 1

Cytogenetic location: 9q33.3
Coordinates: Chromosome 9: 124,481,236–124,507,399 (GRCh38)
Exons: 7 exons across 26.2 kb
Protein: 461 amino acids
Inheritance: Autosomal dominant
Also known as: FTZ1, SF-1, ELP, AD4BP, hSF-1, SF1
Previous symbols: FTZF1
MANE Select transcript: ENST00000373588.9NM_004959.5
Locus type: gene with protein product

Very high
Confident
Low
Very low

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

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Curated reports relevant to this gene

46,XX Differences of Sex Development
- Conditions including XX testicular and ovotesticular differences of sex development, most often caused by a translocated SRY gene or changes at SOX9 or SOX3, and less often by variants in NR5A1, RSPO1 or WNT4.
  - 1 GenCC submitter rates it definitive or strong
  What knowing changes
  Diagnosis explains azoospermia, informs hormone management, and in RSPO1-related disease prompts skin cancer surveillance.
46,XY Differences of Sex Development and Gonadal Dysgenesis
- NR5A1-related sex development disorder
  A spectrum of conditions caused by variants in NR5A1 (SF1), ranging from 46,XY gonadal dysgenesis to male infertility and primary ovarian insufficiency.
  - ClinGen rates the link definitive
  - 2 GenCC submitters rate it definitive or strong
  What knowing changes
  Diagnosis informs fertility counselling and family testing.
- 46,XY complete gonadal dysgenesis (Swyer syndrome)
  A condition in which people with XY chromosomes have undeveloped streak gonads and a female appearance, caused by variants in SRY, NR5A1, MAP3K1, DHH and other genes.
  - 1 GenCC submitter rates it definitive or strong
  What knowing changes
  Streak gonads carry a high risk of gonadoblastoma, so removal is usually recommended, and hormone replacement is needed for puberty.
- 46,XY differences of sex development
  Conditions in people with XY chromosomes in which gonadal or genital development is atypical, caused by variants in genes such as SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 and LHCGR.
  - 1 GenCC submitter rates it definitive or strong
  What knowing changes
  Diagnosis informs hormone treatment, fertility counselling and, where dysgenetic gonads carry Y material, assessment of gonadal tumour risk.
Female Infertility
- Diminished or absent ability of a female to achieve conception.
  - 2 GenCC submitters rate it definitive or strong

Broader groupings

Hypertrophic Cardiomyopathy
- Autosomal dominant
  One of 62 genes linked to it
  A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
  - 1 GenCC submitter rates it definitive or strong
  What knowing changes
  Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

Inheritance

Autosomal dominant: One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How NR5A1 is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.1 kb of the gene's 26.2 kb; 1,386 of those bases code for the protein.

How a genome test reads NR5A1

positions in NR5A1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 26.2 kb of NR5A1, introns included, not only the 3.1 kb of exons.

Traits linked to NR5A1

The Human Phenotype Ontology lists these as features of the rare conditions NR5A1 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the genitourinary system

Show 45 more traits

Abnormality of the endocrine system

Show 4 more traits

Abnormality of the musculoskeletal system

Abnormality of the integument

Abnormality of the breast

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). NR5A1 gene: nuclear receptor subfamily 5 group A member 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/nr5a1

Vancouver

Dante Labs. NR5A1 gene: nuclear receptor subfamily 5 group A member 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/nr5a1

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