Gene: HSPB11

Basic information

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.

Gene expression information

Gene expression in different tissues (GTEx V7)