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NR5A1

The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect.
Protein class

Disease related genes, Human disease related genes, Nuclear receptors, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Group enriched (Theca cells, Granulosa cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (HEL, Hep G2, K-562)

Interaction

Binds DNA as a monomer. Interacts with NR0B2 and PPARGC1A (By similarity). Part of a complex consisting of SFPQ, NONO and NR5A1. Interacts with NCOA2. Interacts with DGKQ and CDK7. Binds to and activated by HIPK3.

Molecular function

Activator, DNA-binding, Receptor

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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