Recombinant Human Translocation protein SEC63 homolog (SEC63)

1. Results suggest that loss of PRKCSH and SEC63 leads to general defects in ciliogenesis, while quenching of the Wnt signaling cascade is cholangiocyte-restricted. PMID:28973524
2. a SEC63 germline mutation may play a role in cyst formation in polycystic liver disease PMID:23209713
3. Phosphorylation of Sec63 by CK2 enhanced its binding to Sec62 PMID:23287549
4. Sec63 may perform a substrate-selective quantity control function during cotranslational endoplasmic reticulum import. PMID:23166619
5. Silencing the human SEC63 genes inhibits transport of only a subset of signal-peptide-containing precursor proteins to endoplasmic reticulum. PMID:22375059
6. identified nucleoredoxin as an interaction partner of Sec63; characterized this interaction; Sec63 is linked to the Wnt signaling pathways and this interaction may be the reason why mutations in SEC63 can lead to polycystic liver disease PMID:21251912
7. identified a total of 26 novel mutations in PRKCSH (n = 14) and SEC63 (n = 12), including four splice site mutations, eight insertions/ deletions, six non-sense mutations, and eight missense mutations PMID:20095989
8. Mutations in SEC63 cause autosomal dominant polycystic liver disease, suggesting a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicating noncilial ER proteins in human polycystic disease. PMID:15133510
9. Sec63p expression was observed in all cyst epithelia regardless of mutational state. And, Cystogenesis in SEC63-associated PCLD occurs via a different mechanism. PMID:18224332

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HGNC: 21082

UNIGENE: Hs.26904

KEGG: hsa:11231

STRING: 9606.ENSP00000357998

OMIM: 608648