| Tag | Content |
|---|---|
| Uniprot ID | Q8TE85; A2A297; B2RCL1; G3XAF0; Q5TH78; Q86Y06; Q8N407; |
| Entrez ID | 57822 |
| Genbank protein ID | EAW95121.1; BAB85067.1; AAO67370.1; AAH36890.1; BAG37608.1; |
| Genbank nucleotide ID | NM_198173.2; NM_021180.3; NM_198174.2; XM_011541870.2; NM_001195010.1; XM_011541869.1; |
| Ensembl protein ID | ENSP00000354943; ENSP00000348333; ENSP00000288955; ENSP00000236255; |
| Ensembl nucleotide ID | ENSG00000158055 |
| Gene name | Grainyhead-like protein 3 homolog |
| Gene symbol | GRHL3 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | 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). |
| Sequence | MSNELDFRSV RLLKNDPVNL QKFSYTSEDE AWKTYLENPL TAATKAMMRV NGDDDSVAAL 60 SFLYDYYMGP KEKRILSSST GGRNDQGKRY YHGMEYETDL TPLESPTHLM KFLTENVSGT 120 PEYPDLLKKN NLMSLEGALP TPGKAAPLPA GPSKLEAGSV DSYLLPTTDM YDNGSLNSLF 180 ESIHGVPPTQ RWQPDSTFKD DPQESMLFPD ILKTSPEPPC PEDYPSLKSD FEYTLGSPKA 240 IHIKSGESPM AYLNKGQFYP VTLRTPAGGK GLALSSNKVK SVVMVVFDNE KVPVEQLRFW 300 KHWHSRQPTA KQRVIDVADC KENFNTVEHI EEVAYNALSF VWNVNEEAKV FIGVNCLSTD 360 FSSQKGVKGV PLNLQIDTYD CGLGTERLVH RAVCQIKIFC DKGAERKMRD DERKQFRRKV 420 KCPDSSNSGV KGCLLSGFRG NETTYLRPET DLETPPVLFI PNVHFSSLQR SGGAAPSAGP 480 SSSNRLPLKR TCSPFTEEFE PLPSKQAKEG DLQRVLLYVR RETEEVFDAL MLKTPDLKGL 540 RNAISEKYGF PEENIYKVYK KCKRGETSLL HPRLSRHPPP DCLECSHPVT QVRNMGFGDG 600 FWRQRDLDSN PSPTTVNSLH FTVNSE 626 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.