Aliases for GRHL1 Gene
External Ids for GRHL1 Gene
Previous HGNC Symbols for GRHL1 Gene
Previous GeneCards Identifiers for GRHL1 Gene
This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq, Jun 2009]
GeneCards Summary for GRHL1 Gene
GRHL1 (Grainyhead Like Transcription Factor 1) is a Protein Coding gene. Diseases associated with GRHL1 include Deafness, Autosomal Dominant 28 and Jaw Cancer. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Metabolism. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is GRHL2.
UniProtKB/Swiss-Prot Summary for GRHL1 Gene
Transcription factor involved in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' (PubMed:12175488, PubMed:18288204, PubMed:29309642). Important regulator of DSG1 in the context of hair anchorage and epidermal differentiation, participates in the maintenance of the skin barrier. There is no genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity during epithelia development (By similarity).
[Isoform 1]: Functions as transcription activator.
[Isoform 2]: May function as a repressor in tissues where both isoform 1 and isoform 2 are expressed.