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

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UBQLN1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2JY5, 2JY6, 2KLC
Identifiers
Aliases	UBQLN1, DA41, DSK2, PLIC-1, UBQN, XDRP1, ubiquilin 1
External IDs	OMIM: 605046 MGI: 1860276 HomoloGene: 137258 GeneCards: UBQLN1
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q21.32|9q21.2-q21.3 Start 83,659,968 bp[1] End 83,707,958 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 B1|13 30.95 cM Start 58,323,970 bp[2] End 58,363,467 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibialis anterior muscle endothelial cell pons pancreatic epithelial cell ganglionic eminence stromal cell of endometrium deltoid muscle secondary oocyte thymus spinal ganglia Top expressed in secondary oocyte seminal vesicula parotid gland medial dorsal nucleus pontine nuclei ventral tegmental area dorsal tegmental nucleus primitive streak medial geniculate nucleus medial vestibular nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function polyubiquitin modification-dependent protein binding kinase binding protein binding identical protein binding Cellular component cytoplasm membrane plasma membrane nucleoplasm aggresome autophagosome endoplasmic reticulum perinuclear region of cytoplasm proteasome complex cytoplasmic vesicle nucleus cytosol protein-containing complex Biological process aggrephagy negative regulation of store-operated calcium channel activity regulation of protein ubiquitination regulation of oxidative stress-induced intrinsic apoptotic signaling pathway response to endoplasmic reticulum stress positive regulation of ER-associated ubiquitin-dependent protein catabolic process autophagy ubiquitin-dependent ERAD pathway positive regulation of protein ubiquitination negative regulation of toll-like receptor 3 signaling pathway cellular response to hypoxia autophagosome maturation autophagosome assembly macroautophagy ubiquitin-dependent protein catabolic process regulation of macroautophagy Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 29979 56085 Ensembl ENSG00000135018 ENSMUSG00000005312 UniProt Q9UMX0 Q8R317 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 Mb Chr 13: 58.32 – 58.36 Mb PubMed search [3] [4]
Wikidata
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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.

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]

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

UBQLN1 has been shown to interact with

• HERPUD1,^[13]
• MTOR,^[14]
• P4HB,^[15]
• PSEN1^[16]
• PSEN2,^[16] and
• UBE3A.^[17]
• TMCO6,^[18]