| Tag | Content |
|---|---|
| Uniprot ID | Q62226 |
| Entrez ID | 20423 |
| Genbank protein ID | CAA53922.1; BAC36956.1; AAH63087.1; |
| Genbank nucleotide ID | NM_009170.3 |
| Ensembl protein ID | ENSMUSP00000002708 |
| Ensembl nucleotide ID | ENSMUSG00000002633 |
| Gene name | Sonic hedgehog protein |
| Gene symbol | Shh |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E11.5, E12.0, E12.5, E13.0, E14.0, E13.5, E14.5, E14.5-15.0, E15.0, E16.0, E15.5, E16.5 |
| Data sources | Manually collected |
| Reference | 15576405; 15269168; 15199404; 19304890; 23975680; 18694563; 19394325; 30235284; 17525797; 17468181; |
| Functional description | Sonic hedgehog protein.The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (PubMed:8824192, PubMed:7891723). Both activities result in the cleavage of the full-length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN (PubMed:8824192). Both activities occur in the reticulum endoplasmic (PubMed:21357747). Once cleaved, ShhC is degraded in the endoplasmic reticulum (PubMed:21357747). |
| Sequence | MLLLLARCFL VILASSLLVC PGLACGPGRG FGKRRHPKKL TPLAYKQFIP NVAEKTLGAS 60 GRYEGKITRN SERFKELTPN YNPDIIFKDE ENTGADRLMT QRCKDKLNAL AISVMNQWPG 120 VKLRVTEGWD EDGHHSEESL HYEGRAVDIT TSDRDRSKYG MLARLAVEAG FDWVYYESKA 180 HIHCSVKAEN SVAAKSGGCF PGSATVHLEQ GGTKLVKDLR PGDRVLAADD QGRLLYSDFL 240 TFLDRDEGAK KVFYVIETLE PRERLLLTAA HLLFVAPHND SGPTPGPSAL FASRVRPGQR 300 VYVVAERGGD RRLLPAAVHS VTLREEEAGA YAPLTAHGTI LINRVLASCY AVIEEHSWAH 360 RAFAPFRLAH ALLAALAPAR TDGGGGGSIP AAQSATEARG AEPTAGIHWY SQLLYHIGTW 420 LLDSETMHPL GMAVKSS 437 |
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.
