SEC63

SEC63
Identifiers
Aliases	SEC63 , DNAJC23, ERdj2, PRO2507, SEC63L, SEC63 homolog, protein translocation regulator, PCLD2
External IDs	OMIM: 608648 MGI: 2155302 HomoloGene: 5220 GeneCards: SEC63
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6q21 Start 107,867,756 bp [1] End 107,958,208 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10 B2|10 22.89 cM Start 42,637,492 bp [2] End 42,708,510 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas parotid gland stromal cell of endometrium bone marrow cells ganglionic eminence Achilles tendon pericardium islet of Langerhans Left adrenal gland cardia Top expressed in seminal vesicula parotid gland lacrimal gland saccule left lobe of liver otic placode crypt of lieberkuhn of small intestine pineal gland duodenum submandibular gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding RNA binding signaling receptor activity Cellular component endoplasmic reticulum membrane cytosol integral component of membrane membrane endoplasmic reticulum Sec62/Sec63 complex Biological process IRE1-mediated unfolded protein response protein targeting to membrane liver development protein transport SRP-dependent cotranslational protein targeting to membrane multicellular organism aging renal system development nitrogen compound metabolic process posttranslational protein targeting to endoplasmic reticulum membrane posttranslational protein targeting to membrane, translocation transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 10: 42.64 – 42.71 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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

• Meyer HA, Grau H, Kraft R, et al. (2000). "Mammalian Sec61 is associated with Sec62 and Sec63". J. Biol. Chem. 275 (19): 14550–7. doi: 10.1074/jbc.275.19.14550 . PMID   10799540.
• Ponting CP (2001). "Proteins of the endoplasmic-reticulum-associated degradation pathway: domain detection and function prediction". Biochem. J. 351. Pt 2: 527–35. PMC   1221390 . PMID   11023840.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Davila S, Furu L, Gharavi AG, et al. (2004). "Mutations in SEC63 cause autosomal dominant polycystic liver disease". Nat. Genet. 36 (6): 575–7. doi: 10.1038/ng1357 . PMID   15133510.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi: 10.1093/dnares/12.2.117 . PMID   16303743.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.
• You KT, Li LS, Kim NG, et al. (2007). "Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumors". PLOS Biol. 5 (5): e109. doi:10.1371/journal.pbio.0050109. PMC   1854916 . PMID   17456004.