GRHL3
entrez
57822
canonical
uniprot
Q8TE85
canonical
ensembl
ENSG00000158055
resolver
ensp
ENSP00000236255
resolver
ensp
ENSP00000288955
resolver
ensp
ENSP00000348333
resolver
ensp
ENSP00000354943
resolver
ensp
ENSP00000431290
resolver
ensp
ENSP00000509790
resolver
genesymbol
GRHL3
resolver
genesymbol_syn
SOM
resolver
genesymbol_syn
TFCP2L4
resolver
hgnc
HGNC:25839
resolver
uniprot
A2A297
resolver
uniprot
B2RCL1
resolver
uniprot
G3XAF0
resolver
uniprot
Q5TH78
resolver
uniprot
Q86Y06
resolver
uniprot
Q8N407
resolver
uniprot_entry
GRHL3_HUMAN
resolver
uniprot_sec
A2A297
resolver
uniprot_sec
B2RCL1
resolver
uniprot_sec
G3XAF0
resolver
uniprot_sec
Q5TH78
resolver
uniprot_sec
Q86Y06
resolver
uniprot_sec
Q8N407
resolver
amino_acid_sequence
MSNELDFRSVRLLKNDPVNLQKFSYTSEDEAWKTYLENPLTAATKAMMRVNGDDDSVAALSFLYDYYMGPKEKRILSSSTGGRNDQGKRYYHGMEYETDLTPLESPTHLMKFLTENVSGTPEYPDLLKKNNLMSLEGALPTPGKAAPLPAGPSKLEAGSVDSYLLPTTDMYDNGSLNSLFESIHGVPPTQRWQPDSTFKDDPQESMLFPDILKTSPEPPCPEDYPSLKSDFEYTLGSPKAIHIKSGESPMAYLNKGQFYPVTLRTPAGGKGLALSSNKVKSVVMVVFDNEKVPVEQLRFWKHWHSRQPTAKQRVIDVADCKENFNTVEHIEEVAYNALSFVWNVNEEAKVFIGVNCLSTDFSSQKGVKGVPLNLQIDTYDCGLGTERLVHRAVCQIKIFCDKGAERKMRDDERKQFRRKVKCPDSSNSGVKGCLLSGFRGNETTYLRPETDLETPPVLFIPNVHFSSLQRSGGAAPSAGPSSSNRLPLKRTCSPFTEEFEPLPSKQAKEGDLQRVLLYVRRETEEVFDALMLKTPDLKGLRNAISEKYGFPEENIYKVYKKCKRGETSLLHPRLSRHPPPDCLECSHPVTQVRNMGFGDGFWRQRDLDSNPSPTTVNSLHFTVNSE
uniprot
proteins
disease_involvement
DISEASE: Van der Woude syndrome 2 (VWS2) [MIM:606713]: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. {ECO:0000269|PubMed:24360809}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q5FWH3, ECO:0000269|PubMed:12549979, ECO:0000269|PubMed:21081122, ECO:0000269|PubMed:24360809, ECO:0000269|PubMed:25347468}.
uniprot
proteins
mass_dalton
70345
uniprot
proteins
protein_family
Grainyhead subfamily
uniprot
proteins
protein_family
Grh/CP2 family
uniprot
proteins
pubmed
12549979
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21081122
uniprot
proteins
pubmed
24360809
uniprot
proteins
pubmed
25347468
uniprot
proteins
sequence_length
626
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21081122}.
uniprot
proteins