CCDC134
entrez
79879
canonical
uniprot
Q9H6E4
canonical
ensembl
ENSG00000100147
resolver
ensp
ENSP00000255784
resolver
ensp
ENSP00000385803
resolver
ensp
ENSP00000575621
resolver
ensp
ENSP00000634437
resolver
enst
ENST00000255784
resolver
enst
ENST00000402061
resolver
enst
ENST00000905562
resolver
enst
ENST00000964378
resolver
genesymbol
CCDC134
resolver
hgnc
HGNC:26185
resolver
uniprot
B0QY51
resolver
uniprot
B4DRL0
resolver
uniprot_entry
B0QY51_HUMAN
resolver
uniprot_entry
B4DRL0_HUMAN
resolver
uniprot_entry
CC134_HUMAN
resolver
amino_acid_sequence
MDLLQFLAFLFVLLLSGMGATGTLRTSLDPSLEIYKKMFEVKRREQLLALKNLAQLNDIHQQYKILDVMLKGLFKVLEDSRTVLTAADVLPDGPFPQDEKLKDAFSHVVENTAFFGDVVLRFPRIVHYYFDHNSNWNLLIRWGISFCNQTGVFNQGPHSPILSLMAQELGISEKDSNFQNPFKIDRTEFIPSTDPFQKALREEEKRRKKEEKRKEIRKGPRISRSQSEL
uniprot
proteins
disease_involvement
DISEASE: Osteogenesis imperfecta 22 (OI22) [MIM:619795]: An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI22 is a severe form of the disease. {ECO:0000269|PubMed:32181939, ECO:0000269|PubMed:35019224}. Note=The disease is caused by variants affecting the gene represented in this entry. A recurrent variant in the initiation codon has been found in multiple OI22 patients (PubMed:32181939, PubMed:35019224). The variant results in absence of CCDC134 protein in patient fibroblasts and osteoblasts, increased ERK1/2 phosphorylation, decreased OPN and COL1A1 expression and reduced mineralization (PubMed:32181939). {ECO:0000269|PubMed:32181939, ECO:0000269|PubMed:35019224}.
uniprot
proteins
function
FUNCTION: Molecular adapter required to prevent protein hyperglycosylation of HSP90B1: during translation, associates with nascent HSP90B1 and the STT3A catalytic component of the OST-A complex and tethers them to a specialized translocon that forms a microenvironment for HSP90B1 folding (PubMed:38670073, PubMed:39509507). In the CCDC134-containing translocon, STT3A associates with the SRT pseudosubstrate motif of HSP90B1, preventing access to facultative glycosylation sites until folding is completed, preventing hyperglycosylation and subsequent degradation of HSP90B1 (PubMed:39509507). In extracellular secreted form, promotes proliferation and activation of CD8(+) T-cells, suggesting a cytokine-like function (PubMed:25125657). May inhibit ERK and JNK signaling activity (PubMed:18087676, PubMed:23070808). May suppress cell migration and invasion activity, via its effects on ERK and JNK signaling (PubMed:23070808). May also localize in the nucleus: enhances stability of the PCAF histone acetyltransferase (HAT) complex member TADA2A and thus promotes PCAF-mediated histone acetyltransferase activity (PubMed:22644376). Has a critical role in the regulation of osteogenesis and bone development (PubMed:32181939). {ECO:0000269|PubMed:18087676, ECO:0000269|PubMed:22644376, ECO:0000269|PubMed:23070808, ECO:0000269|PubMed:25125657, ECO:0000269|PubMed:32181939, ECO:0000269|PubMed:38670073, ECO:0000269|PubMed:39509507}.
uniprot
proteins
mass_dalton
26561
uniprot
proteins
mutagenesis
MUTAGEN 229; /note="L->A: Abolished retention in the endoplasmic reticulum leading to secretion."; /evidence="ECO:0000269|PubMed:39509507
uniprot
proteins
post_translational_modification
PTM: O-glycosylated, with additional sialic acid modifications. {ECO:0000269|PubMed:18087676}.
uniprot
proteins
protein_family
CCDC134 family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18087676
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22644376
uniprot
proteins
pubmed
23070808
uniprot
proteins
pubmed
25125657
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
32181939
uniprot
proteins
pubmed
35019224
uniprot
proteins
pubmed
38670073
uniprot
proteins
pubmed
39509507
uniprot
proteins
sequence_length
229
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:39509507, ECO:0000305|PubMed:18087676}. Secreted {ECO:0000269|PubMed:18087676}. Cytoplasm {ECO:0000269|PubMed:22644376}. Nucleus {ECO:0000269|PubMed:22644376}. Note=Mainly localizes to the endoplasmic reticulum (PubMed:39509507). Accumulates in the nucleus in response to UV irradiation (PubMed:22644376). {ECO:0000269|PubMed:22644376, ECO:0000269|PubMed:39509507}.
uniprot
proteins