Property Summary

NCBI Gene PubMed Count 24
Grant Count 18
R01 Count 13
Funding $1,220,656.26
PubMed Score 60.23
PubTator Score 22.61

Knowledge Summary

Patent

No data available

Expression

Gene RIF (10)

PMID Text
23287549 Phosphorylation of Sec63 by CK2 enhanced its binding to Sec62
23209713 a SEC63 germline mutation may play a role in cyst formation in polycystic liver disease
23166619 Sec63 may perform a substrate-selective quantity control function during cotranslational endoplasmic reticulum import.
22375059 Silencing the human SEC63 genes inhibits transport of only a subset of signal-peptide-containing precursor proteins to endoplasmic reticulum.
21251912 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
20408955 Observational study of gene-disease association. (HuGE Navigator)
20095989 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
18224332 Sec63p expression was observed in all cyst epithelia regardless of mutational state. And, Cystogenesis in SEC63-associated PCLD occurs via a different mechanism.
16835903 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15133510 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.

AA Sequence

MAGQQFQYDDSGNTFFYFLTSFVGLIVIPATYYLWPRDQNAEQIRLKNIRKVYGRCMWYRLRLLKPQPNI      1 - 70
IPTVKKIVLLAGWALFLFLAYKVSKTDREYQEYNPYEVLNLDPGATVAEIKKQYRLLSLKYHPDKGGDEV     71 - 140
MFMRIAKAYAALTDEESRKNWEEFGNPDGPQATSFGIALPAWIVDQKNSILVLLVYGLAFMVILPVVVGS    141 - 210
WWYRSIRYSGDQILIRTTQIYTYFVYKTRNMDMKRLIMVLAGASEFDPQYNKDATSRPTDNILIPQLIRE    211 - 280
IGSINLKKNEPPLTCPYSLKARVLLLSHLARMKIPETLEEDQQFMLKKCPALLQEMVNVICQLIVMARNR    281 - 350
EEREFRAPTLASLENCMKLSQMAVQGLQQFKSPLLQLPHIEEDNLRRVSNHKKYKIKTIQDLVSLKESDR    351 - 420
HTLLHFLEDEKYEEVMAVLGSFPYVTMDIKSQVLDDEDSNNITVGSLVTVLVKLTRQTMAEVFEKEQSIC    421 - 490
AAEEQPAEDGQGETNKNRTKGGWQQKSKGPKKTAKSKKKKPLKKKPTPVLLPQSKQQKQKQANGVVGNEA    491 - 560
AVKEDEEEVSDKGSDSEEEETNRDSQSEKDDGSDRDSDREQDEKQNKDDEAEWQELQQSIQRKERALLET    561 - 630
KSKITHPVYSLYFPEEKQEWWWLYIADRKEQTLISMPYHVCTLKDTEEVELKFPAPGKPGNYQYTVFLRS    631 - 700
DSYMGLDQIKPLKLEVHEAKPVPENHPQWDTAIEGDEDQEDSEGFEDSFEEEEEEEEDDD              701 - 760
//

Text Mined References (30)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23287549 2013 CK2 phosphorylation of human Sec63 regulates its interaction with Sec62.
23209713 2012 Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease.
23166619 2012 Role of human sec63 in modulating the steady-state levels of multi-spanning membrane proteins.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22375059 2012 Different effects of Sec61?, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells.
21269460 2011 Initial characterization of the human central proteome.
21251912 2011 An interaction between human Sec63 and nucleoredoxin may provide the missing link between the SEC63 gene and polycystic liver disease.
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