GENE NAME | GRHL1 |
CHROMOSOME | 2 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000134317 |
UNIPROT ACCESSION NUMBER | Q9NZI5 |
GO MOLECULAR FUNCTION | ['protein homodimerization activity', 'chromatin DNA binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'sequence-specific double-stranded DNA binding', 'sequence-specific DNA binding', 'protein binding', 'transcription cis-regulatory region binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'DNA-binding transcription factor activity, RNA polymerase II-specific'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-1430728; R-HSA-1989781; R-HSA-400206; R-HSA-556833 |
2 combinations linked to GRHL1 | OLI1688; OLI717 |
2 variants linked to GRHL1 | GRHL1:c.25C>T, p.Arg9Trp; GRHL1:c.860T>G, p.Val287Gly |
2 diseases linked to GRHL1 | Isolated anencephaly; Non-Syndromic genetic keratoconus |