| Tag | Content |
|---|---|
| Uniprot ID | Q61602 |
| Entrez ID | 14634 |
| Genbank protein ID | CAA64543.1 |
| Genbank nucleotide ID | NM_008130.2 |
| Ensembl protein ID | ENSMUSP00000106137 |
| Ensembl nucleotide ID | ENSMUSG00000021318 |
| Gene name | Transcriptional activator GLI3 |
| Gene symbol | Gli3 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO,CLO |
| Developmental stage | E13.0, E14.0, E13.5, E14.5 |
| Data sources | Manually collected |
| Reference | 5962396; 9006072; 6049666; 27802276; 7202526; 5806166; |
| Functional description | Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in regulating the size of the zone of distal chondrocytes, in restricting the zone of PTHLH expression in distal cells and in activating chondrocyte proliferation. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'. |
| Sequence | MEAQAHSSTA TERKKAENSI GKCPTRTDVS EKAVASSTTS NEDESPGQIY HRERRNAITM 60 QPQSVQGLNK ISEEPSTSSD ERASLIKKEI HGSLPHLAEP SLPYRGTVFA MDPRNGYMEP 120 HYHPPHLFPA FHPPVPIDAR HHEGRYHYDP SPIPPLHVPS ALSSSPTYPD LPFIRISPHR 180 NPTAASESPF SPPHPYINPY MDYIRSLHSS PSLSMISAAR GLSPTDAPHA GVSPAEYYHQ 240 MALLTGQRSP YADILPSAAT AGAGAIHMEY LHAMDSTRFP SPRLSARPSR KRTLSISPLS 300 DHSFDLQTMI RTSPNSLVTI LNNSRSSSSA SGSYGHLSAS AISPALSFTY PSAPVSLHMH 360 QQILSRQQSL GSAFGHSPPL IHPAPTFPTQ RPIPGIPTVL NPVQVSSGPS ESSQSKPTSE 420 SAVSSTGDPM HNKRSKIKPD EDLPSPGSRG QQEQPEGTTL VKEEADKDES KQEPEVIYET 480 NCHWEGCTRE FDTQDQLVHH INNDHIHGEK KEFVCRWLDC SREQKPFKAQ YMLVVHMRRH 540 TGEKPHKCTF EGCTKAYSRL ENLKTHLRSH TGEKPYVCEH EGCNKAFSNA SDRAKHQNRT 600 HSNEKPYVCK IPGCTKRYTD PSSLRKHVKT VHGPEAHVTK KQRGDMHPRP PPPRDSGSHS 660 QSRSPGRPTQ GAFGEQKELS NTTSKREECL QVKTVKAEKP MTSQPSPGGQ SSCSSQQSPI 720 SNYSNSGLEL PLTDGGSVAD LSAIDETPIM DSTISTATTA LALQARRNPA GTKWMEHIKL 780 ERLKQVNGMF PRLNPILPSK APAVSPLIGN GTQSNNNYSS GGPGTLLPSR SDLSGVDFTV 840 LNTLNRRDSN TSTISSAYLS SRRSSGISPC FSSRRSSEAS QAEGRPQNVS VADSYDPIST 900 DASRRSSEAS QGDGLPSLLS LTPVQQYRLK AKYAAATGGP PPTPLPHMER LSLKTKMALL 960 GEGRDSGVTL PPVHPPRRCS DGGGHTYRGR HLMPHDALAN SVRRASDPVR TVSENMSLAR 1020 VQRFSSLNSF NPPNLPPSVE KRSLVLQNYT RQESSQPRYF QASPCPPSIT ENVALEALTM 1080 DADANLNDED LLPDDVVQYL NSQNQTGYGQ QLQSGISEDS KVAHEPEDLD LAGLPDSHVG 1140 QEYPALEQPC SEGSKTDLPI QWNEVSSGTS DLSSSKLKCG QQRPSAQQPR GFGLYNNMVV 1200 HPHNLWKVGT GPAGGYQTLG ENSSTYNGPE HFAIHSGDGL GTNGNTFHEQ PFKTQQYGSQ 1260 LNRQPLTSSA LDHACGTGIQ GSKLKGNSLQ ENGGLLDFSL SVAPNELAGN TVNGMQTQDQ 1320 MGQGYIAHQL LSGSMQHQGP SRPGQQVLGQ VGATSHINIY QGTESCLPGT QDNSSQPSSM 1380 AAIRGYQPCA SYGGNRRQAM PRGNLTLQQG QLSDMSQSSR VNSIKMEAQG QSQQLCSTVQ 1440 NYSGQFYDQT MGFSQQDRKA GSFSLSDANC LLQGNGTENS ELLSPGANQV TSTVDSFESH 1500 DLEGVQIDFD AIIDDGDHTS LMSGALSPSI IQNLSHSSSR LTTPRASLPF PSLSMGTTNM 1560 AIGDMSSLLT SLAEESKFLA VMQ 1583 |
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.
