| Tag | Content |
|---|---|
| Uniprot ID | O75386; B3KNB7; B7Z6A2; D3DUQ4; F8WBZ9; Q8N5B0; |
| Entrez ID | 7289 |
| Genbank protein ID | BAH13188.1; EAW88878.1; EAW88876.1; AAH32587.1; BAG51279.1; AAC95431.1; EAW88877.1; |
| Genbank nucleotide ID | NM_003324.4; NM_001160408.1; |
| Ensembl protein ID | ENSP00000380321; ENSP00000410051; ENSP00000444110; |
| Ensembl nucleotide ID | ENSG00000078246 |
| Gene name | Tubby-related protein 3 |
| Gene symbol | TULP3 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Negative regulator of the Shh signaling transduction pathway: recruited to primary cilia via association with the IFT complex A (IFT-A) and is required for recruitment of G protein-coupled receptor GPR161 to cilia, a promoter of PKA-dependent basal repression machinery in Shh signaling. Binds to phosphorylated inositide (phosphoinositide) lipids. Both IFT-A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking. Not involved in ciliogenesis. During adipogenesis, regulates ciliary trafficking of FFAR4 in preadipocytes. |
| Sequence | MEASRCRLSP SGDSVFHEEM MKMRQAKLDY QRLLLEKRQR KKRLEPFMVQ PNPEARLRRA 60 KPRASDEQTP LVNCHTPHSN VILHGIDGPA AVLKPDEVHA PSVSSSVVEE DAENTVDTAS 120 KPGLQERLQK HDISESVNFD EETDGISQSA CLERPNSASS QNSTDTGTSG SATAAQPADN 180 LLGDIDDLED FVYSPAPQGV TVRCRIIRDK RGMDRGLFPT YYMYLEKEEN QKIFLLAARK 240 RKKSKTANYL ISIDPVDLSR EGESYVGKLR SNLMGTKFTV YDRGICPMKG RGLVGAAHTR 300 QELAAISYET NVLGFKGPRK MSVIIPGMTL NHKQIPYQPQ NNHDSLLSRW QNRTMENLVE 360 LHNKAPVWNS DTQSYVLNFR GRVTQASVKN FQIVHKNDPD YIVMQFGRVA DDVFTLDYNY 420 PLCAVQAFGI GLSSFDSKLA CE 442 |
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.