GENE NAME | PROP1 |
CHROMOSOME | 5 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000175325 |
UNIPROT ACCESSION NUMBER | O75360 |
GO MOLECULAR FUNCTION | ['chromatin binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'beta-catenin 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', 'protein C-terminus binding', 'protein binding', 'DNA-binding transcription repressor activity, RNA polymerase II-specific'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
6 combinations linked to PROP1 | OLI1520; OLI1415; OLI602; OLI020; OLI1385; OLI1386 |
5 variants linked to PROP1 | PROP1:c.152G>T, p.Gly51Val; PROP1:p.Arg112Gln; PROP1:c.150del, p.Arg53AspfsTer112; PROP1:c.425C>T, p.Ala142Val; PROP1:c.302G>T, p.Ser101Ile |
5 diseases linked to PROP1 | 46,XY disorder of sex development; Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with partial puberty phenotype; Disorder of sex development; Congenital hypogonadotropic hypogonadism |