Details for Gene GRHL1

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

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