SEC63

Translocation protein SEC63 homolog is a protein that in humans is encoded by the SEC63 gene.[5][6][7]

SEC63
Identifiers
AliasesSEC63, DNAJC23, ERdj2, PRO2507, SEC63L, SEC63 homolog, protein translocation regulator, PCLD2
External IDsOMIM: 608648 MGI: 2155302 HomoloGene: 5220 GeneCards: SEC63
Gene location (Human)
Chr.Chromosome 6 (human)[1]
Band6q21Start107,867,756 bp[1]
End107,958,208 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

11231

140740

Ensembl

ENSG00000025796

ENSMUSG00000019802

UniProt

Q9UGP8

Q8VHE0

RefSeq (mRNA)

NM_007214
NM_018529

NM_153055
NM_001359283
NM_001359284
NM_001359285
NM_001359286

RefSeq (protein)

NP_009145

NP_694695
NP_001346212
NP_001346213
NP_001346214
NP_001346215

Location (UCSC)Chr 6: 107.87 – 107.96 MbChr 10: 42.76 – 42.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

Clinical significance

Mutations of this gene have been linked with autosomal dominant polycystic liver disease.[8]

References

  1. GRCh38: Ensembl release 89: ENSG00000025796 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000019802 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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. S2CID 19417266.
  6. 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. S2CID 46726981.
  7. "Entrez Gene: SEC63 SEC63 homolog (S. cerevisiae)".
  8. 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


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