DNAJB13
DnaJ heat shock protein family (Hsp40) member B13
- Ensembl:
- ENSG00000187726
- UniProt:
- P59910
- OMIM:
- 610263
- Synonyms:
- RSPH16A, TSARG6
Cilia effects upon perturbation of DNAJB13
Ciliogenesis screen results (2 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.34) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Phenotypes
- Human ciliopathy phenotype:
- primary ciliary dyskinesia
Ciliopathy associations
- Primary Ciliary Dyskinesia
Subcellular localization
basal body, cilia
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- Reproduction & sperm
- Protein processing & maturation
Function
Role in the proper formation and function of ciliary and flagellar axonemes in humans, preserving the integrity of the central complex of motile cilia and flagella (27486783)
Model organism evidence
Mus musculus (3 references)
Not only was the lethal phenotype of hydrocephalus suppressed, but we also found that Dnajb13 is required for sperm cilia formation.
Western blotting and immunohistochemistry determined that the DNAJB13 protein, which was located in the cytoplasm of spermatids and the sperm flagellum, was detectable from postnatal week 4.