GRHL3

This gene encodes a member of the grainyhead family of transcription factors. The encoded protein interacts with leader-binding protein 32 (LBP-32) and brother of mammalian grainyhead (BOM), and may function as a transcription factor during development. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Additional transcript variants have been described, but their biological nature has not been determined. [provided by RefSeq]

Full Name

grainyhead-like 3 (Drosophila)

Function

Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin (By similarity).

Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (PubMed:21081122, PubMed:25347468).

xhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair (By similarity).

Exhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair but is essential to form the epidermal barrier with TGM3 as critical direct target gene among others. Despite being dispensable during normal epidermal homeostasis in the adulthood, is again required for barrier repair after immune-mediated epidermal damage, regulates distinct gene batteries in embryonic epidermal differentiation and adult epidermal barrier reformation after injury. Plays unique and cooperative roles with GRHL2 in establishing distinct zones of primary neurulation. Essential for spinal closure, functions cooperatively with GRHL2 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity).

Also required for proper development of the oral periderm (PubMed:24360809).

No genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity (PubMed:21081122).

Biological Process

Central nervous system development Source: Ensembl
Cochlea morphogenesis Source: Ensembl
Ectoderm development Source: Ensembl
Epidermis development Source: UniProtKB
Establishment of planar polarity Source: Ensembl
Establishment of skin barrier Source: Ensembl
Eyelid development in camera-type eye Source: Ensembl
Neural tube closure Source: UniProtKB
Pattern specification process Source: Ensembl
Planar cell polarity pathway involved in neural tube closure Source: Ensembl
Positive regulation of gene expression Source: Ensembl
Positive regulation of GTPase activity Source: Ensembl
Positive regulation of transcription by RNA polymerase II Source: HGNC
Regulation of actin cytoskeleton organization Source: MGI
Regulation of transcription by RNA polymerase II Source: GO_Central
Wound healing Source: Ensembl

Cellular Location

Nucleus

Involvement in disease

Van der Woude syndrome 2 (VWS2):
An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.