HSPD1

heat shock protein family D (Hsp60) member 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000144381
UniProt:
P10809
OMIM:
118190
Synonyms:
GROEL, HSP60, SPG13

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal vocalization, embryonic lethality prior to organogenesis, abnormal coat/hair pigmentation, preweaning lethality, complete penetrance

Subcellular localization

basal body, cytosol, mitochondria

References: PMID:11260259

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Metabolism
  • Reproduction & sperm
  • Protein processing & maturation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Tetrahyme hsp60 ( HSPD1 in Human) is localized in basal bodies and is involved in cortical patterning such as the formation of the oral apparatus as well as having a role in the folding of mitochondrial proteins in mitochondria(11260259).