General Information of Drug Therapeutic Target (DTT) (ID: TTTK36V)

DTT Name Orphan nuclear receptor DAX-1 (NR0B1)
Synonyms Nuclear receptor subfamily 0 group B member 1; Nuclear receptor DAX-1; DSS-AHC critical region on the X chromosome protein 1; DAX1; AHC
Gene Name NR0B1
DTT Type
Literature-reported target
[1]
BioChemical Class
Nuclear hormone receptor
UniProt ID
NR0B1_HUMAN
TTD ID
T23191
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Sequence
MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVGREGLLGGRNV
ALLYRCCFCGKDHPRQGSILYSMLTSAKQTYAAPKAPEATLGPCWGCSCGSDPGVGRAGL
PGGRPVALLYRCCFCGEDHPRQGSILYSLLTSSKQTHVAPAAPEARPGGAWWDRSYFAQR
PGGKEALPGGRATALLYRCCFCGEDHPQQGSTLYCVPTSTNQAQAAPEERPRAPWWDTSS
GALRPVALKSPQVVCEAASAGLLKTLRFVKYLPCFQVLPLDQQLVLVRNCWASLLMLELA
QDRLQFETVEVSEPSMLQKILTTRRRETGGNEPLPVPTLQHHLAPPAEARKVPSASQVQA
IKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYIQGLQWGTQQILSEHTRMTHQ
GPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSMDDMMLEMLCTKI
Function
Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency. Orphan nuclear receptor.
KEGG Pathway
Cortisol synthesis and secretion (hsa04927 )
Reactome Pathway
Nuclear Receptor transcription pathway (R-HSA-383280 )

References

1 Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. J Clin Endocrinol Metab. 2003 Mar;88(3):1341-9.