| Tag | Content |
|---|---|
| Uniprot ID | Q5FWH3; A2ADI2; |
| Entrez ID | 230824 |
| Genbank protein ID | AAH89372.1 |
| Genbank nucleotide ID | NM_001013756.1 |
| Ensembl protein ID | ENSMUSP00000101481 |
| Ensembl nucleotide ID | ENSMUSG00000037188 |
| Gene name | Grainyhead-like protein 3 homolog |
| Gene symbol | Grhl3 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 24360809 |
| Functional description | Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes. Essential for epidermal differentiation and barrier formation at the end of embryogenesis with TGM3 as critical direct target (PubMed:21081122, PubMed:20654612, PubMed:25347468). Exhibits functional redundancy with GRHL2 in epidermal morphogenetic events such as eyelid fusion and epidermal wound repair (PubMed:21081122). 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 (PubMed:25347468). 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 (PubMed:14608380, PubMed:20654612). Also required for proper development of the oral periderm (PubMed:24360809). No genetic interaction with GRHL1, no functional cooperativity due to diverse target gene selectivity (PubMed:21081122). |
| Sequence | MSNELDFRSV RLLKNDPVSF QKFPYSNEDE AWKTYLENPL TAATKAMMRV NGDEESVAAL 60 SFLYDYYMGP KEKRILSSST GGRNDQGKKF YHSMDYEPDL APLESPTHLM KFLTENVSGS 120 PDYTDQLKKN NLLGLEGVLP TPGKTNTVPP GPSKLEASSM DSYLLPASDI YDNGSLNSLF 180 ESIHGVPPTQ RWQPDSTFKD DPQESLLFPD ILKTSPDPPC PEDYPGLKSD FEYTLGSPKA 240 IHIKAGESPM AYLNKGQFYP VTLRTPAGGK GLALSSSKVK SVVMVVFDND KVPVEQLRFW 300 RHWHSRQPTA KQRVIDVADC KENFNTVQHI EEVAYNALSF VWNVNEEAKV FIGVNCLSTD 360 FSSQKGVKGV PLNLQIDTYD CGAGTERLVH RAVCQIKIFC DKGAERKMRD DERKQFRRKV 420 KCPDSSNNAG IKGCLLSGFR GNETTYLRPE TDLETQPVLF IPNLHFSSLQ RPGGVVPSAG 480 HSSSDRLPLK RTCSPFAEEF EPLPSKQAKE DDLQRVLLYV RRETEEVFDA LMLKTPDLKG 540 LRNAISEKYG LPEENICKVY KKCKRGILVN MDNNIIQHYS NHVAFLLDMG ELDGKIQIIL 600 KEL 603 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | GRHL3 | 102178225 | A0A452F7N1 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | GRHL3 | 57822 | Q8TE85 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Grhl3 | 230824 | Q5FWH3 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | GRHL3 | 456630 | H2RDV8 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | GRHL3 | A0A287B8R5 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | GRHL3 | 100356381 | G1T595 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Grhl3 | 298555 | D4A1E5 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | grhl3 | E7F6C3 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | IDA |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IDA |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISO |
| GO:0003700 | DNA-binding transcription factor activity | IBA |
| GO:0005515 | protein binding | IPI |
| GO:0031490 | chromatin DNA binding | ISS |
| GO:0031490 | chromatin DNA binding | ISO |
| GO:0043565 | sequence-specific DNA binding | IDA |
| GO:0043565 | sequence-specific DNA binding | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001736 | establishment of planar polarity | IGI |
| GO:0001843 | neural tube closure | IMP |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA |
| GO:0007389 | pattern specification process | IMP |
| GO:0007398 | ectoderm development | IMP |
| GO:0007417 | central nervous system development | IMP |
| GO:0008544 | epidermis development | IMP |
| GO:0010628 | positive regulation of gene expression | IMP |
| GO:0032956 | regulation of actin cytoskeleton organization | ISO |
| GO:0042060 | wound healing | IMP |
| GO:0042060 | wound healing | IGI |
| GO:0043547 | positive regulation of GTPase activity | IGI |
| GO:0045893 | positive regulation of transcription, DNA-templated | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IMP |
| GO:0061029 | eyelid development in camera-type eye | IMP |
| GO:0061436 | establishment of skin barrier | IMP |
| GO:0090103 | cochlea morphogenesis | IGI |
| GO:0090179 | planar cell polarity pathway involved in neural tube closure | IGI |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005634 | nucleus | IBA |
| GO:0005654 | nucleoplasm | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|
| Pfam ID | Pfam Term |
|---|---|
| PF04516 | CP2 |