RBCC Red Blood Cell Collection

TCPE_HUMAN

Source: hRBCD ; ID: IPI00010720
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: CCT5 , CCTE, KIAA0098
Protein names and data: TCPE_HUMAN , T-complex protein 1 subunit epsilon; TCP-1-epsilon , CCT-epsilon Lenght: 541 a.a.
Mass: 59671 Da
fasta formatted sequence
Function: Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin.
Disease: ( OMIM: 256840 610150 ) Hereditary sensory neuropathy, autosomal recessive, with spastic paraplegia (HSNSP) [MIM:256840]: A disease characterized by spastic paraplegia and progressive distal sensory neuropathy leading to mutilating ulcerations of the upper and lower limbs. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Genetic variants

146 - 146 E -> V (in dbSNP:rs11557652). VAR_052267 11557652
147 - 147 H -> R (in HSNSP). VAR_030658

Database cross-references

UniProt: P48643
Ensembl: ENST00000280326
MIM: 256840
MIM: 610150
neXtProt: NX_P48643
Antibodypedia: P48643 (may not find the protein thus also not any antibody)
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