UBQLN1

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UBQLN1
Proteina Ubiquilina1.jpg
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesUBQLN1, DA41, DSK2, PLIC-1, UBQN, XDRP1, ubiquilin 1
External IDsOMIM: 605046 MGI: 1860276 HomoloGene: 137258 GeneCards: UBQLN1
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for UBQLN1
Genomic location for UBQLN1
Band9q21.32|9q21.2-q21.3Start83,659,968 bp[1]
End83,707,958 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_013438
NM_053067

NM_026842
NM_152234

RefSeq (protein)

NP_038466
NP_444295
NP_444295.1

NP_081118
NP_689420

Location (UCSC)Chr 9: 83.66 – 83.71 MbChr 13: 58.18 – 58.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ubiquilin-1 is a protein that in humans is encoded by the UBQLN1 gene.[5][6][7]

Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to effect in vivo protein degradation.

Possible Role In Preventing Alzheimer's Disease[edit]

Ubiquilin has also been shown to modulate accumulation of presenilin proteins, and is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene.[7]

Higher levels of ubiquilin-1 in the brain decreased malformation of the APP molecule which plays a key role in triggering Alzheimer's disease.[8] Conversely, lower levels of ubiquilin-1 in the brain were associated with increased malformation of APP.[8]

Similarity to Other Proteins[edit]

Human UBQLN1 shares a high degree of similarity with related ubiquilins including UBQLN2 and UBQLN4.[9]

Interactions[edit]

UBQLN1 has been shown to interact with

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000135018 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000005312 - 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. ^ Ozaki T, Hishiki T, Toyama Y, Yuasa S, Nakagawara A, Sakiyama S (Oct 1997). "Identification of a new cellular protein that can interact specifically with DAN". DNA Cell Biol. 16 (8): 985–91. doi:10.1089/dna.1997.16.985. PMID 9303440.
  6. ^ Hanaoka E, Ozaki T, Ohira M, Nakamura Y, Suzuki M, Takahashi E, Moriya H, Nakagawara A, Sakiyama S (Jul 2000). "Molecular cloning and expression analysis of the human DA41 gene and its mapping to chromosome 9q21.2-q21.3". J Hum Genet. 45 (3): 188–91. doi:10.1007/s100380050209. PMID 10807547.
  7. ^ a b "Entrez Gene: UBQLN1 ubiquilin 1".
  8. ^ a b Stieren ES, El Ayadi A, Xiao Y, Siller E, Landsverk ML, Oberhauser AF, Barral JM, Boehning D (August 2011). "Ubiquilin-1 Is a Molecular Chaperone for the Amyloid Precursor Protein". J Biol Chem. 286 (41): 35689–98. doi:10.1074/jbc.M111.243147. PMC 3195644. PMID 21852239. Lay summaryScience Daily.
  9. ^ Marín I (March 2014). "The ubiquilin gene family: evolutionary patterns and functional insights". BMC Evol Biol. 14: 63. doi:10.1186/1471-2148-14-63. PMC 4230246. PMID 24674348.
  10. ^ Kim TY, Kim E, Yoon SK, Yoon JB (May 2008). "Herp enhances ER-associated protein degradation by recruiting ubiquilins". Biochem. Biophys. Res. Commun. 369 (2): 741–6. doi:10.1016/j.bbrc.2008.02.086. PMID 18307982.
  11. ^ Wu S, Mikhailov A, Kallo-Hosein H, Hara K, Yonezawa K, Avruch J (January 2002). "Characterization of ubiquilin 1, an mTOR-interacting protein". Biochim. Biophys. Acta. 1542 (1–3): 41–56. doi:10.1016/S0167-4889(01)00164-1. PMID 11853878.
  12. ^ Ko HS, Uehara T, Nomura Y (September 2002). "Role of ubiquilin associated with protein-disulfide isomerase in the endoplasmic reticulum in stress-induced apoptotic cell death". J. Biol. Chem. 277 (38): 35386–92. doi:10.1074/jbc.M203412200. PMID 12095988.
  13. ^ a b Mah AL, Perry G, Smith MA, Monteiro MJ (November 2000). "Identification of Ubiquilin, a Novel Presenilin Interactor That Increases Presenilin Protein Accumulation". J. Cell Biol. 151 (4): 847–62. doi:10.1083/jcb.151.4.847. PMC 2169435. PMID 11076969.
  14. ^ Kleijnen MF, Shih AH, Zhou P, Kumar S, Soccio RE, Kedersha NL, Gill G, Howley PM (August 2000). "The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome". Mol. Cell. 6 (2): 409–19. doi:10.1016/S1097-2765(00)00040-X. PMID 10983987.
  15. ^ Rolland T, Taşan M, Charloteaux B, Pevzner SJ, Zhong Q, Sahni N, Yi S, Lemmens I, Fontanillo C, Mosca R, Kamburov A, Ghiassian SD, Yang X, Ghamsari L, Balcha D, Begg BE, Braun P, Brehme M, Broly MP, Carvunis AR, Convery-Zupan D, Corominas R, Coulombe-Huntington J, Dann E, Dreze M, Dricot A, Fan C, Franzosa E, Gebreab F, Gutierrez BJ, Hardy MF, Jin M, Kang S, Kiros R, Lin GN, Luck K, MacWilliams A, Menche J, Murray RR, Palagi A, Poulin MM, Rambout X, Rasla J, Reichert P, Romero V, Ruyssinck E, Sahalie JM, Scholz A, Shah AA, Sharma A, Shen Y, Spirohn K, Tam S, Tejeda AO, Trigg SA, Twizere JC, Vega K, Walsh J, Cusick ME, Xia Y, Barabási AL, Iakoucheva LM, Aloy P, De Las RJ, Tavernier J, Calderwood MA, Hill DE, Hao T, Roth FP, Vidal M (2014). "A proteome-scale map of the human interactome network". Cell. 159: 1212–26. doi:10.1016/j.cell.2014.10.050. PMC 4266588. PMID 25416956.

Further reading[edit]