UBQLN1

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UBQLN1
Proteina Ubiquilina1.jpg 2jy6 ub with uba ile44 blue.png 2klc rainbow all states.png
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 two domains, an 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.

Functions[edit]

Ubiquilin-1 is associated with protein degradation and aggregation of misfolded proteins, and may be involved in neurodegenerative diseases.[8][9] Ubiquilin-1 has been reported to act as a molecular chaperone for amyloid precursor protein (APP), a protein associated with Alzheimer's disease.[10]

Ubiquilin-1 was first identified through its interactions with presenilins.[11] Two transcript variants encoding different isoforms have been found for this gene.[7]

Related proteins[edit]

Human UBQLN1 shares a high degree of similarity with related ubiquilins including UBQLN2 and UBQLN4.[12]

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 (August 1997). "Identification of a new cellular protein that can interact specifically with DAN". DNA and Cell Biology. 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, et al. (Jul 2000). "Molecular cloning and expression analysis of the human DA41 gene and its mapping to chromosome 9q21.2-q21.3". Journal of Human Genetics. 45 (3): 188–91. doi:10.1007/s100380050209. PMID 10807547.
  7. ^ a b "Entrez Gene: UBQLN1 ubiquilin 1".
  8. ^ Haapasalo A, Viswanathan J, Bertram L, Soininen H, Tanzi RE, Hiltunen M (February 2010). "Emerging role of Alzheimer's disease-associated ubiquilin-1 in protein aggregation". Biochemical Society Transactions. 38 (Pt 1): 150–5. doi:10.1042/BST0380150. PMID 20074050.
  9. ^ Zhang C, Saunders AJ (June 2009). "An emerging role for Ubiquilin 1 in regulating protein quality control system and in disease pathogenesis". Discovery Medicine. 8 (40): 18–22. PMC 3158983. PMID 19772837.
  10. ^ Stieren ES, El Ayadi A, Xiao Y, Siller E, Landsverk ML, Oberhauser AF, et al. (October 2011). "Ubiquilin-1 is a molecular chaperone for the amyloid precursor protein". The Journal of Biological Chemistry. 286 (41): 35689–98. doi:10.1074/jbc.M111.243147. PMC 3195644. PMID 21852239. Lay summaryScience Daily.
  11. ^ Mah AL, Perry G, Smith MA, Monteiro MJ (November 2000). "Identification of ubiquilin, a novel presenilin interactor that increases presenilin protein accumulation". The Journal of Cell Biology. 151 (4): 847–62. doi:10.1083/jcb.151.4.847. PMC 2169435. PMID 11076969.
  12. ^ Marín I (March 2014). "The ubiquilin gene family: evolutionary patterns and functional insights". BMC Evolutionary Biology. 14: 63. doi:10.1186/1471-2148-14-63. PMC 4230246. PMID 24674348.
  13. ^ Kim TY, Kim E, Yoon SK, Yoon JB (May 2008). "Herp enhances ER-associated protein degradation by recruiting ubiquilins". Biochemical and Biophysical Research Communications. 369 (2): 741–6. doi:10.1016/j.bbrc.2008.02.086. PMID 18307982.
  14. ^ Wu S, Mikhailov A, Kallo-Hosein H, Hara K, Yonezawa K, Avruch J (January 2002). "Characterization of ubiquilin 1, an mTOR-interacting protein". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1542 (1–3): 41–56. doi:10.1016/S0167-4889(01)00164-1. PMID 11853878.
  15. ^ 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". The Journal of Biological Chemistry. 277 (38): 35386–92. doi:10.1074/jbc.M203412200. PMID 12095988.
  16. ^ a b Mah AL, Perry G, Smith MA, Monteiro MJ (November 2000). "Identification of ubiquilin, a novel presenilin interactor that increases presenilin protein accumulation". The Journal of Cell Biology. 151 (4): 847–62. doi:10.1083/jcb.151.4.847. PMC 2169435. PMID 11076969.
  17. ^ Kleijnen MF, Shih AH, Zhou P, Kumar S, Soccio RE, Kedersha NL, et al. (August 2000). "The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome". Molecular Cell. 6 (2): 409–19. doi:10.1016/S1097-2765(00)00040-X. PMID 10983987.
  18. ^ Rolland T, Taşan M, Charloteaux B, Pevzner SJ, Zhong Q, Sahni N, et al. (November 2014). "A proteome-scale map of the human interactome network". Cell. 159 (5): 1212–1226. doi:10.1016/j.cell.2014.10.050. PMC 4266588. PMID 25416956.

Further reading[edit]