Details for Gene NR5A1

GENE NAME NR5A1
CHROMOSOME 9
ENSEMBL ID None
ENTREZ ID ENSG00000136931
UNIPROT ACCESSION NUMBER Q13285
GO MOLECULAR FUNCTION ['DNA binding', 'chromatin binding', 'zinc ion binding', 'enzyme binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'sequence-specific double-stranded DNA binding', 'nuclear receptor activity', 'protein binding', 'RNA polymerase II transcription regulatory region sequence-specific DNA binding', 'sequence-specific DNA binding', 'phospholipid binding', 'transcription coregulator binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04927; hsa04934; hsa04927; hsa04934; R-HSA-1266738; R-HSA-212436; R-HSA-2990846; R-HSA-3108232; R-HSA-383280; R-HSA-392499; R-HSA-4090294; R-HSA-452723; R-HSA-597592; R-HSA-73857; R-HSA-74160; R-HSA-9690406
20 combinations linked to NR5A1 OLI1046; OLI573; OLI574; OLI575; OLI1618; OLI1617; OLI1557; OLI400; OLI998; OLI572; OLI401; OLI1510; OLI1550; OLI1558; OLI667; OLI766; OLI1043; OLI669; OLI668; OLI1727
19 variants linked to NR5A1 NR5A1:c.251G>A, p.Arg84His; NR5A1:c.1114_1116del, p.Lys372del; NR5A1:c.58G>C, p.Val20Leu; NR5A1:c.70delC, p.His24ThrfsTer51; NR5A1:c.268G>C, p.Gly90Arg; NR5A1:c.614_615insC, p.Gln206ThrfsTer20; NR5A1:c.88T>A, p.Cys30Ser; NR5A1:c.1183_1185delGAG, p.Glu395del; NR5A1:c.937C>T, p.Arg313Cys; NR5A1:c.86C>A, p.Thr29Lys; NR5A1:c.1063G>A, p.Val355Met; NR5A1:c.502G>C, p.Ala168Pro; NR5A1:c.1223A>C, p.His408Pro; NR5A1:c.206G>T, p.Arg69Leu; NR5A1:c.904T>C, p.Trp302Arg; NR5A1:c.1052C>T, p.Aal351Val; NR5A1:c.288_304del, p.Met98GlyfsTer45; NR5A1:c.11C>A, p.Ser4Ter; NR5A1:c.559delG, p.Ala187fs
6 diseases linked to NR5A1 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development; Primary ovarian failure; Androgen insensitivity syndrome; Disorder of sex development; 46,XY partial gonadal dysgenesis
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