GENE NAME | DMRT1 |
CHROMOSOME | 9 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000137090 |
UNIPROT ACCESSION NUMBER | Q9Y5R6 |
GO MOLECULAR FUNCTION | ['chromatin binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'sequence-specific double-stranded DNA binding', 'metal ion binding', 'cis-regulatory region sequence-specific DNA binding', 'identical protein binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-1266738; R-HSA-9690406 |
1 combination linked to DMRT1 | OLI1551 |
1 variant linked to DMRT1 | DMRT1:c.149G>C, p.Ser50Thr |
1 disease linked to DMRT1 | 46,XY disorder of sex development |