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Aliases for UBQLN1 Gene

Aliases for UBQLN1 Gene

  • Ubiquilin 1 2 3 5
  • Protein Linking IAP With Cytoskeleton 1 3 4
  • HPLIC-1 3 4
  • PLIC-1 3 4
  • DA41 3 4
  • Testicular Tissue Protein Li 219 3
  • XDRP1 3
  • PLIC1 4
  • DSK2 3
  • UBQN 3

External Ids for UBQLN1 Gene

Previous GeneCards Identifiers for UBQLN1 Gene

  • GC09M077319
  • GC09M078129
  • GC09M079829
  • GC09M081731
  • GC09M081732
  • GC09M083504
  • GC09M085464
  • GC09M086274
  • GC09M056100

Summaries for UBQLN1 Gene

Entrez Gene Summary for UBQLN1 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]

GeneCards Summary for UBQLN1 Gene

UBQLN1 (Ubiquilin 1) is a Protein Coding gene. Diseases associated with UBQLN1 include brown-vialetto-van laere syndrome and alzheimer disease. Among its related pathways are CXCR4-mediated signaling events and Protein processing in endoplasmic reticulum. GO annotations related to this gene include identical protein binding and protein domain specific binding. An important paralog of this gene is UBQLN3.

UniProtKB/Swiss-Prot for UBQLN1 Gene

  • Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (PubMed:15147878). Plays a role in the ERAD pathway via its interaction with ER-localized proteins UBXN4, VCP and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (PubMed:19822669, PubMed:18307982). Isoform 1, isoform 2 and isoform 3 play a role in unfolded protein response (UPR) by attenuating the induction of UPR-inducible genes, DDTI3/CHOP, HSPA5 and PDIA2 during ER stress (PubMed:18953672). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:19148225, PubMed:20529957, PubMed:23459205). Negatively regulates the TICAM1/TRIF-dependent toll-like receptor signaling pathway by decreasing the abundance of TICAM1 via the autophagic pathway (PubMed:21695056). Isoform 1 and isoform 3 play a key role in the regulation of the levels of PSEN1 by targeting its accumulation to aggresomes which may then be removed from cells by autophagocytosis (PubMed:21143716). Promotes the ubiquitination and lysosomal degradation of ORAI1, consequently downregulating the ORAI1-mediated Ca2+ mobilization (PubMed:23307288). Suppresses the maturation and proteasomal degradation of amyloid beta A4 protein (A4) by stimulating the lysine 63 (K63)-linked polyubiquitination. Delays the maturation of A4 by sequestering it in the Golgi apparatus and preventing its transport to the cell surface for subsequent processing (By similarity).

Gene Wiki entry for UBQLN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBQLN1 Gene

Genomics for UBQLN1 Gene

Regulatory Elements for UBQLN1 Gene

Promoters for UBQLN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UBQLN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for UBQLN1 Gene

Chromosome:
9
Start:
83,659,963 bp from pter
End:
83,708,253 bp from pter
Size:
48,291 bases
Orientation:
Minus strand

Genomic View for UBQLN1 Gene

Genes around UBQLN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBQLN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBQLN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBQLN1 Gene

Proteins for UBQLN1 Gene

  • Protein details for UBQLN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMX0-UBQL1_HUMAN
    Recommended name:
    Ubiquilin-1
    Protein Accession:
    Q9UMX0
    Secondary Accessions:
    • Q5T6J5
    • Q5T6J9
    • Q8IXS9
    • Q8N2Q3
    • Q9H0T8
    • Q9H3R4
    • Q9HAZ5

    Protein attributes for UBQLN1 Gene

    Size:
    589 amino acids
    Molecular mass:
    62519 Da
    Quaternary structure:
    • Monomer and homodimer. Heterodimer with UBQLN2 (PubMed:16813565). Binds CD47, NBL1, GABRA1, GABRA2, GABRA3, GABRA6, GABRB1, GABRB2 and GABRB3 (By similarity). Binds UBE3A, BTRC, P4HB and MTOR. Interacts with the proteasome 19S subunit. Interacts (via ubiquitin-like domain) with TREX1; the interaction is direct and may control TREX1 subcellular location. Forms a complex with UBXN4 and VCP. Interacts (via UBA domain) with UBQLN4 (via ubiquitin-like domain). Found in a complex with UBQLN2 and MAP1LC3A/B/C. The monomeric form interacts with PSEN2 and the monomeric forms of isoform 1 and isoform 3 interact with PSEN1. Interacts with ORAI1. Interacts (via UBA domain) with TICAM1. Interacts with EPS15. Interacts (via UBA domain) with UBA52 and (via ubiquitin-like domain) with PSMD3 and PSMD4. Interacts with HERPUD1. Interacts with MAP1LC3A/B/C in the presence of UBQLN4. Interacts (via ubiquitin-like domain) with EPS15 (via UIM domains) and both the ubiquitinated and non-ubiquitinated forms can interact with EPS15. Interacts (via ubiquitin-like domain) with EPS15L1, HGS (via UIM domain) and STAM2 (via UIM domain).

    Three dimensional structures from OCA and Proteopedia for UBQLN1 Gene

    Alternative splice isoforms for UBQLN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBQLN1 Gene

Proteomics data for UBQLN1 Gene at MOPED

Post-translational modifications for UBQLN1 Gene

Other Protein References for UBQLN1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UBQLN1 (UBQLN1)

No data available for DME Specific Peptides for UBQLN1 Gene

Domains & Families for UBQLN1 Gene

Gene Families for UBQLN1 Gene

Suggested Antigen Peptide Sequences for UBQLN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UMX0

UniProtKB/Swiss-Prot:

UBQL1_HUMAN :
  • The UBA domain mediates binding to PSEN1 and PSEN2. It also binds ubiquitin with micromolar affinity, independently of polyubiquitin linkage type. Essential for its association with microtubule-associated protein 1 light chain 3 (MAP1LC3).
Domain:
  • The UBA domain mediates binding to PSEN1 and PSEN2. It also binds ubiquitin with micromolar affinity, independently of polyubiquitin linkage type. Essential for its association with microtubule-associated protein 1 light chain 3 (MAP1LC3).
  • The ubiquitin-like domain mediates its association with the subunits of the proteasome.
  • Dimerization is dependent upon the central region of the protein containing the STI1 domains and is independent of its ubiquitin-like and UBA domains.
  • Contains 4 STI1 domains.
  • Contains 1 UBA domain.
  • Contains 1 ubiquitin-like domain.
genes like me logo Genes that share domains with UBQLN1: view

Function for UBQLN1 Gene

Molecular function for UBQLN1 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (PubMed:15147878). Plays a role in the ERAD pathway via its interaction with ER-localized proteins UBXN4, VCP and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (PubMed:19822669, PubMed:18307982). Isoform 1, isoform 2 and isoform 3 play a role in unfolded protein response (UPR) by attenuating the induction of UPR-inducible genes, DDTI3/CHOP, HSPA5 and PDIA2 during ER stress (PubMed:18953672). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:19148225, PubMed:20529957, PubMed:23459205). Negatively regulates the TICAM1/TRIF-dependent toll-like receptor signaling pathway by decreasing the abundance of TICAM1 via the autophagic pathway (PubMed:21695056). Isoform 1 and isoform 3 play a key role in the regulation of the levels of PSEN1 by targeting its accumulation to aggresomes which may then be removed from cells by autophagocytosis (PubMed:21143716). Promotes the ubiquitination and lysosomal degradation of ORAI1, consequently downregulating the ORAI1-mediated Ca2+ mobilization (PubMed:23307288). Suppresses the maturation and proteasomal degradation of amyloid beta A4 protein (A4) by stimulating the lysine 63 (K63)-linked polyubiquitination. Delays the maturation of A4 by sequestering it in the Golgi apparatus and preventing its transport to the cell surface for subsequent processing (By similarity).
genes like me logo Genes that share phenotypes with UBQLN1: view

Animal Models for UBQLN1 Gene

MGI Knock Outs for UBQLN1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBQLN1 Gene

Localization for UBQLN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBQLN1 Gene

Cytoplasm. Nucleus. Endoplasmic reticulum. Cytoplasmic vesicle, autophagosome. Cell membrane. Note=Detected in neuronal processes and at synapses (By similarity). Recruited to the ER during ER-associated protein degradation (ERAD) (PubMed:19822669). Isoform 1 and isoform 3 colocalize with PSEN1 in the cell membrane and in cytoplasmic juxtanuclear structures called aggresomes (PubMed:21143716). Colocalizes with ORAI1 and TICAM1 in the autophagosome (PubMed:23307288, PubMed:21695056). Colocalizes with EPS15 and HGS in ubiquitin-rich cytoplasmic aggregates that are not endocytic compartments and with EPS15 also in aggresomes (PubMed:16159959). {ECO:0000250 UniProtKB:Q9JJP9, ECO:0000269 PubMed:16159959, ECO:0000269 PubMed:19822669, ECO:0000269 PubMed:21143716, ECO:0000269 PubMed:21695056, ECO:0000269 PubMed:23307288}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBQLN1 Gene COMPARTMENTS Subcellular localization image for UBQLN1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
plasma membrane 5
vacuole 5
cytosol 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for UBQLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IMP 12634373
GO:0005783 endoplasmic reticulum IDA 12095988
genes like me logo Genes that share ontologies with UBQLN1: view

Pathways & Interactions for UBQLN1 Gene

genes like me logo Genes that share pathways with UBQLN1: view

Pathways by source for UBQLN1 Gene

1 BioSystems pathway for UBQLN1 Gene
1 KEGG pathway for UBQLN1 Gene

Gene Ontology (GO) - Biological Process for UBQLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016241 regulation of macroautophagy IMP 20529957
GO:0031396 regulation of protein ubiquitination IDA 12634373
GO:0031398 positive regulation of protein ubiquitination IDA 23307288
GO:0034140 negative regulation of toll-like receptor 3 signaling pathway IEA --
GO:0034976 response to endoplasmic reticulum stress IMP 12095988
genes like me logo Genes that share ontologies with UBQLN1: view

No data available for SIGNOR curated interactions for UBQLN1 Gene

Drugs & Compounds for UBQLN1 Gene

(1) Drugs for UBQLN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with UBQLN1: view

Transcripts for UBQLN1 Gene

Unigene Clusters for UBQLN1 Gene

Ubiquilin 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBQLN1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b
SP1: - -
SP2: - - -
SP3: - - -
SP4: -
SP5:

Relevant External Links for UBQLN1 Gene

GeneLoc Exon Structure for
UBQLN1
ECgene alternative splicing isoforms for
UBQLN1

Expression for UBQLN1 Gene

mRNA expression in normal human tissues for UBQLN1 Gene

Protein differential expression in normal tissues from HIPED for UBQLN1 Gene

This gene is overexpressed in Bone (27.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UBQLN1 Gene



SOURCE GeneReport for Unigene cluster for UBQLN1 Gene Hs.9589

mRNA Expression by UniProt/SwissProt for UBQLN1 Gene

Q9UMX0-UBQL1_HUMAN
Tissue specificity: Brain (at protein level) (PubMed:18953672). Ubiquitous. Highly expressed throughout the brain; detected in neurons and in neuropathological lesions, such as neurofibrillary tangles and Lewy bodies. Highly expressed in heart, placenta, pancreas, lung, liver, skeletal muscle and kidney.
genes like me logo Genes that share expression patterns with UBQLN1: view

Protein tissue co-expression partners for UBQLN1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for UBQLN1 Gene

Orthologs for UBQLN1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UBQLN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UBQLN1 35
  • 92.28 (n)
  • 94.72 (a)
UBQLN1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBQLN1 35
  • 93.66 (n)
  • 95.93 (a)
UBQLN1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ubqln1 35
  • 84.8 (n)
  • 89.81 (a)
Ubqln1 16
Ubqln1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBQLN1 35
  • 99.77 (n)
  • 99.83 (a)
UBQLN1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ubqln1 35
  • 83.07 (n)
  • 87.74 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 88 (a)
ManyToMany
-- 36
  • 81 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves UBQLN1 35
  • 79.34 (n)
  • 84.68 (a)
-- 36
  • 82 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75576 35
ubqln1 35
  • 74.18 (n)
  • 81.14 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14224 37
  • 46 (a)
Ubqn 35
  • 54.14 (n)
  • 55.19 (a)
CG31528 36
  • 27 (a)
ManyToMany
Ubqn 36
  • 50 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004294 35
  • 52.86 (n)
  • 51.17 (a)
worm
(Caenorhabditis elegans)
Secernentea ubql-1 36
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DSK2 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10824 36
  • 49 (a)
OneToMany
Species with no ortholog for UBQLN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for UBQLN1 Gene

ENSEMBL:
Gene Tree for UBQLN1 (if available)
TreeFam:
Gene Tree for UBQLN1 (if available)

Paralogs for UBQLN1 Gene

Paralogs for UBQLN1 Gene

(3) SIMAP similar genes for UBQLN1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for UBQLN1 Gene

genes like me logo Genes that share paralogs with UBQLN1: view

Variants for UBQLN1 Gene

Sequence variations from dbSNP and Humsavar for UBQLN1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs11659 -- 83,661,661(+) AAATG(C/T)ATCAT utr-variant-3-prime
rs12404 -- 83,661,494(-) GTCCA(C/G)TTTAT utr-variant-3-prime
rs868917 -- 83,701,483(+) GGGTA(C/T)GGGGA intron-variant
rs944946 -- 83,685,354(-) catac(A/G)aagAC intron-variant
rs944947 -- 83,685,149(-) CTTCT(A/G)TTTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UBQLN1 Gene

Variant ID Type Subtype PubMed ID
nsv893512 CNV Gain 21882294
nsv893513 CNV Gain 21882294

Variation tolerance for UBQLN1 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.29; 25.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBQLN1 Gene

HapMap Linkage Disequilibrium report
UBQLN1
Human Gene Mutation Database (HGMD)
UBQLN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBQLN1 Gene

Disorders for UBQLN1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for UBQLN1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
brown-vialetto-van laere syndrome
  • bvvls
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for UBQLN1

Genetic Association Database (GAD)
UBQLN1
Human Genome Epidemiology (HuGE) Navigator
UBQLN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBQLN1
genes like me logo Genes that share disorders with UBQLN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBQLN1 Gene

Publications for UBQLN1 Gene

  1. Molecular cloning and expression analysis of the human DA41 gene and its mapping to chromosome 9q21.2-q21.3. (PMID: 10807547) Hanaoka E. … Sakiyama S. (J. Hum. Genet. 2000) 2 3 4 23 67
  2. Extremely rare incidence of the UBQLN1 polymorphism (UBQ-8i) in Taiwan Chinese with Alzheimer's disease. (PMID: 20350585) Chuo L.J. … Kuo Y.M. (Neurosci. Lett. 2010) 3 23
  3. Effects of ubiquilin 1 on the unfolded protein response. (PMID: 18953672) Lu A. … Tanzi R.E. (J. Mol. Neurosci. 2009) 3 23
  4. Potentiation of amyotrophic lateral sclerosis (ALS)-associated TDP-43 aggregation by the proteasome-targeting factor, ubiquilin 1. (PMID: 19112176) Kim S.H. … Tibbetts R.S. (J. Biol. Chem. 2009) 3 23
  5. ubiquilin antagonizes presenilin and promotes neurodegeneration in Drosophila. (PMID: 17947293) Ganguly A. … Guo M. (Hum. Mol. Genet. 2008) 3 23

Products for UBQLN1 Gene

Sources for UBQLN1 Gene

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