GENE NAME | SRA1 |
CHROMOSOME | 5 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000213523 |
UNIPROT ACCESSION NUMBER | Q9HD15 |
GO MOLECULAR FUNCTION | ['steroid receptor RNA activator RNA binding', 'nuclear receptor coactivator activity', 'transcription coactivator activity', 'DNA binding', 'protein binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
8 combinations linked to SRA1 | OLI1580; OLI1568; OLI654; OLI1566; OLI1565; OLI574; OLI018; OLI1324 |
7 variants linked to SRA1 | SRA1:c.536T>C, p.Ile179Thr; SRA1:c.94C>G, p.Gln32Glu; SRA1:c.190C>A, p.Pro64Thr; SRA1:c.94C>G, p.Gln32Glu; SRA1:c.536T>C, p.Ile179Thr; SRA1:c.218C>T, p.Pro73Leu; SRA1:c.59C>T, p.Pro20Leu |
4 diseases linked to SRA1 | Disorder of sex development; Non-acquired combined pituitary hormone deficiency; Congenital hypogonadotropic hypogonadism; Syndrome with 46,XY disorder of sex development |