SEC63

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VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Translocation protein SEC63 homolog is a protein that in humans is encoded by the SEC63 gene.[1][2][3]

Function

The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER.[3]

Clinical significance

Mutations of this gene have been linked with autosomal dominant polycystic liver disease.[4]

References

  1. Woollatt E, Pine KA, Shine J, Sutherland GR, Iismaa TP (Jun 1999). "Human Sec63 endoplasmic reticulum membrane protein, map position 6q21". Chromosome Res. 7 (1): 77. doi:10.1023/A:1009283530544. PMID 10219736.
  2. Skowronek MH, Rotter M, Haas IG (Nov 1999). "Molecular characterization of a novel mammalian DnaJ-like Sec63p homolog". Biol Chem. 380 (9): 1133–8. doi:10.1515/BC.1999.142. PMID 10543453.
  3. 3.0 3.1 "Entrez Gene: SEC63 SEC63 homolog (S. cerevisiae)".
  4. Davila S, Furu L, Gharavi AG, Tian X, Onoe T, Qian Q, Li A, Cai Y, Kamath PS, King BF, Azurmendi PJ, Tahvanainen P, Kääriäinen H, Höckerstedt K, Devuyst O, Pirson Y, Martin RS, Lifton RP, Tahvanainen E, Torres VE, Somlo S (June 2004). "Mutations in SEC63 cause autosomal dominant polycystic liver disease". Nat. Genet. 36 (6): 575–7. doi:10.1038/ng1357. PMID 15133510.

Further reading