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)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologHSPB11616194Q17Q88Bos taurusPredictionMore>>
1:1 orthologHSPB11100683945F6X539Canis lupus familiarisPredictionMore>>
1:1 orthologHSPB11102177677A0A452G8H2Capra hircusPredictionMore>>
1:1 orthologHSPB1151668Q9Y547Homo sapiensPredictionMore>>
1:1 orthologHspb1172938Q9D6H2CPOMus musculusPublicationMore>>
1:1 orthologHSPB11456868H2PZ28Pan troglodytesPredictionMore>>
1:1 orthologHSPB11100621426I3LB08Sus scrofaPredictionMore>>
1:1 orthologYIPF1100353611G1SWV3Oryctolagus cuniculusPredictionMore>>
1:1 orthologHspb11685284A0A0G2K664Rattus norvegicusPredictionMore>>
1:1 orthologhspa5A2BIN6Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005515 protein bindingIPI
GO:0046872 metal ion bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0001501 skeletal system developmentIEA
GO:0001822 kidney developmentISS
GO:0007224 smoothened signaling pathwayIEA
GO:0007283 spermatogenesisISS
GO:0007507 heart developmentIEA
GO:0030154 cell differentiationIEA
GO:0030324 lung developmentIEA
GO:0035735 intraciliary transport involved in cilium assemblyTAS
GO:0070986 left/right axis specificationIEA
GO:0060271 cilium assemblyISS

GO:Cellular Component

GO ID GO Term Evidence
GO:0005813 centrosomeIBA
GO:0005929 ciliumIBA
GO:0005929 ciliumTAS
GO:0030992 intraciliary transport particle BISS
GO:0030992 intraciliary transport particle BIBA
GO:0097542 ciliary tipTAS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1852241 Organelle biogenesis and maintenanceTAS
R-HSA-1852241 Organelle biogenesis and maintenanceIEA
R-HSA-5617833 Cilium AssemblyTAS
R-HSA-5617833 Cilium AssemblyIEA
R-HSA-5620924 Intraflagellar transportTAS
R-HSA-5620924 Intraflagellar transportIEA

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0106 Calcium
KW-0966 Cell projection
KW-0969 Cilium
KW-0221 Differentiation
KW-0479 Metal-binding
KW-0653 Protein transport
KW-1185 Reference proteome
KW-0744 Spermatogenesis
KW-0346 Stress response
KW-0813 Transport

Interpro

InterPro ID InterPro Term
IPR000421 FA58C
IPR008979 Galactose-bd-like_sf
IPR033558 IFT25

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF00754 F5_F8_type_C

Protein-protein interaction

Protein-miRNA interaction