UBQLN1
Ubiquilin-1
Also known as: DA41, DSK2, PLIC-1, UBQL1_HUMAN, XDRP1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UMX0
- Gene
- UBQLN1
- Ensembl
- ENSG00000135018
- Chromosome
- 9
- Canonical length
- 589 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain 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 affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
589 residues, UniProt reviewed canonical sequence.
>Q9UMX0|UBQLN1
1 MAESGESGGP PGSQDSAAGA EGAGAPAAAA SAEPKIMKVT VKTPKEKEEF AVPENSSVQQ
61 FKEEISKRFK SHTDQLVLIF AGKILKDQDT LSQHGIHDGL TVHLVIKTQN RPQDHSAQQT
121 NTAGSNVTTS STPNSNSTSG SATSNPFGLG GLGGLAGLSS LGLNTTNFSE LQSQMQRQLL
181 SNPEMMVQIM ENPFVQSMLS NPDLMRQLIM ANPQMQQLIQ RNPEISHMLN NPDIMRQTLE
241 LARNPAMMQE MMRNQDRALS NLESIPGGYN ALRRMYTDIQ EPMLSAAQEQ FGGNPFASLV
301 SNTSSGEGSQ PSRTENRDPL PNPWAPQTSQ SSSASSGTAS TVGGTTGSTA SGTSGQSTTA
361 PNLVPGVGAS MFNTPGMQSL LQQITENPQL MQNMLSAPYM RSMMQSLSQN PDLAAQMMLN
421 NPLFAGNPQL QEQMRQQLPT FLQQMQNPDT LSAMSNPRAM QALLQIQQGL QTLATEAPGL
481 IPGFTPGLGA LGSTGGSSGT NGSNATPSEN TSPTAGTTEP GHQQFIQQML QALAGVNPQL
541 QNPEVRFQQQ LEQLSAMGFL NREANLQALI ATGGDINAAI ERLLGSQPSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against UBQLN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.53
- Highest tissue expression
- 121 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 121 nTPM
- bone marrow: 80 nTPM
- liver: 69 nTPM
- tongue: 68 nTPM
- parathyroid gland: 68 nTPM
- cerebral cortex: 67 nTPM
Single-cell type
- syncytiotrophoblasts: 267 nCPM
- neutrophil progenitors: 158 nCPM
- neutrophils: 154 nCPM
- myonuclei: 150 nCPM
- esophageal apical cells: 147 nCPM
- monocyte progenitors: 140 nCPM
Immune cell
- basophil: 35 nTPM
- NK-cell: 32 nTPM
- intermediate monocyte: 32 nTPM
- non-classical monocyte: 31 nTPM
- myeloid DC: 24 nTPM
- T-reg: 24 nTPM
Brain region
- white matter: 152 nTPM
- pons: 145 nTPM
- hypothalamus: 142 nTPM
- cerebral cortex: 139 nTPM
- midbrain: 139 nTPM
- thalamus: 137 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about UBQLN1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 57 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Disease | AutoantibodyPubMed
Conditions in which antibodies against UBQLN1 are reported. Each links to that disease's full target list.
ReferencesPubMed · IEDB
Publications for UBQLN1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.
Reference: AutoantibodyPubMed
3 publications
- Autoantibody profiles reveal ubiquilin 1 as a humoral immune response target in lung adenocarcinoma.
2007 · Cancer Res · RCR 1.8 · 78 citations - Humoral immune response to tumor-associated antigen Ubiquilin 1 (UBQLN1) and its tumor-promoting potential in lung cancer.
2024 · BMC Cancer · RCR 0.6 · 4 citations - Enhancement of a multianalyte serum biomarker panel to identify lymph node metastases in non-small cell lung cancer with circulating autoantibody biomarkers.
2011 · Int J Cancer · RCR 0.6 · 23 citations
Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.22
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.39
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- aggrephagy
- autophagosome assembly
- autophagosome maturation
- cellular response to hypoxia
- ERAD pathway
- macroautophagy
- negative regulation of toll-like receptor 3 signaling pathway
- positive regulation of ERAD pathway
- positive regulation of protein ubiquitination
- regulation of macroautophagy
- regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
- regulation of protein ubiquitination
- response to endoplasmic reticulum stress
- ubiquitin-dependent protein catabolic process
- negative regulation of store-operated calcium channel activity
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of UBQLN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads UBQLN1 as an antibody target. Whether an autoantibody or antibody against UBQLN1 could matter depends on whether native UBQLN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UBQLN1 is annotated at the cell surface, where native UBQLN1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label UBQLN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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