| Tag | Content |
|---|---|
| Uniprot ID | Q9Y547; A6NG57; D3DQ45; Q9Y684; |
| Entrez ID | 51668 |
| Genbank protein ID | EAX06717.1; AAH05245.1; EAX06719.1; AAQ03618.1; AAD43011.1; AAQ03994.1; |
| Genbank nucleotide ID | NM_016126.3; NM_001316935.1; |
| Ensembl protein ID | ENSP00000194214 |
| Ensembl nucleotide ID | ENSG00000081870 |
| Gene name | Intraflagellar transport protein 25 homolog |
| Gene symbol | HSPB11 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Component of the IFT complex B required for sonic hedgehog/SHH signaling. May mediate transport of SHH components: required for the export of SMO and PTCH1 receptors out of the cilium and the accumulation of GLI2 at the ciliary tip in response to activation of the SHH pathway, suggesting it is involved in the dynamic transport of SHH signaling molecules within the cilium. Not required for ciliary assembly. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity). |
| Sequence | MRKIDLCLSS EGSEVILATS SDEKHPPENI IDGNPETFWT TTGMFPQEFI ICFHKHVRIE 60 RLVIQSYFVQ TLKIEKSTSK EPVDFEQWIE KDLVHTEGQL QNEEIVAHDG SATYLRFIIV 120 SAFDHFASVH SVSAEGTVVS NLSS 144 |
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.