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 machi... See more...

Aliases for UBQLN1 Gene

Aliases for UBQLN1 Gene

  • Ubiquilin 1 2 3 5
  • Protein Linking IAP With Cytoskeleton 1 3 4
  • Ubiquilin-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 Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein domain specific binding. An important paralog of this gene is UBQLN2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for UBQLN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBQLN1 Gene

Genomics for UBQLN1 Gene

GeneHancer (GH) Regulatory Elements for UBQLN1 Gene

Promoters and enhancers for UBQLN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J083705 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.1 1126 4.7 EP300 HNRNPK FOXK2 ZBTB40 ZNF217 CTCF TCF12 NRF1 POLR2G SP1 ENSG00000254473 LOC105376114 UBQLN1 KIF27 IDNK RF00017-7660 lnc-GKAP1-1
GH09J083620 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.9 +84.8 84778 5.2 HNRNPK ZNF217 CTCF SIN3A POLR2G NCOR1 GTF2E2 PHF8 ZFX POLR2A IDNK ENSG00000254473 KIF27 UBQLN1 GKAP1 piR-44878-060 RF00017-7660
GH09J083665 Enhancer 0.6 Ensembl ENCODE 11.7 +41.8 41752 2.6 ATF2 JUND CTCF ATF7 ENSG00000254473 IDNK UBQLN1 lnc-GKAP1-1 piR-44878-060 RF00017-7660
GH09J083663 Promoter 0.3 EPDnew 16.6 +44.2 44238 0.1 FRMD3 UBQLN1 ENSG00000254473 IDNK lnc-GKAP1-1 piR-44878-060 RF00017-7660
GH09J083633 Enhancer 0.4 dbSUPER 5.1 +74.5 74487 1.1 TAL1 ZBTB33 GATA1 POLR2A CBFA2T3 ENSG00000254473 IDNK UBQLN1 piR-44878-060 RF00017-7660
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBQLN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBQLN1

Top Transcription factor binding sites by QIAGEN in the UBQLN1 gene promoter:
  • AhR
  • Chx10
  • CUTL1
  • FOXD3
  • Hlf
  • Nkx2-5
  • Pax-3
  • Pbx1a
  • RORalpha1

Genomic Locations for UBQLN1 Gene

Genomic Locations for UBQLN1 Gene
chr9:83,659,963-83,708,253
(GRCh38/hg38)
Size:
48,291 bases
Orientation:
Minus strand
chr9:86,274,878-86,323,168
(GRCh37/hg19)
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:
    • A0A024R284
    • 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

Post-translational modifications for UBQLN1 Gene

Other Protein References for UBQLN1 Gene

No data available for DME Specific Peptides for UBQLN1 Gene

Domains & Families for UBQLN1 Gene

Gene Families for UBQLN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for UBQLN1 Gene

Blocks:
  • Ubiquitin domain
  • Ubiquitin-associated domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UBQLN1 Gene

GenScript: Design optimal peptide antigens:
  • Protein linking IAP with cytoskeleton 1 (UBQL1_HUMAN)

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.
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).

Gene Ontology (GO) - Molecular Function for UBQLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 11076969
GO:0019900 kinase binding IPI 11853878
GO:0031593 polyubiquitin modification-dependent protein binding IDA,IBA 15147878
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with UBQLN1: view
genes like me logo Genes that share phenotypes with UBQLN1: view

Animal Models for UBQLN1 Gene

MGI Knock Outs for UBQLN1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBQLN1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
cytoskeleton 2
mitochondrion 2
endosome 2
lysosome 2
golgi apparatus 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBQLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IMP 12634373
GO:0005776 autophagosome IBA,IDA 20529957
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 KEGG pathway for UBQLN1 Gene
1 Cell Signaling Technology pathway for UBQLN1 Gene

Gene Ontology (GO) - Biological Process for UBQLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IMP 20529957
GO:0006511 ubiquitin-dependent protein catabolic process IBA 21873635
GO:0006914 autophagy IEA --
GO:0016236 macroautophagy IMP 20529957
GO:0016241 regulation of macroautophagy IBA 21873635
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

mRNA/cDNA for UBQLN1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for UBQLN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for UBQLN1 Gene



Protein tissue co-expression partners for UBQLN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBQLN1

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.

Evidence on tissue expression from TISSUES for UBQLN1 Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Muscle(4.4)
  • Kidney(3.3)
genes like me logo Genes that share expression patterns with UBQLN1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia UBQLN1 31 30
  • 99.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UBQLN1 31 30
  • 93.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UBQLN1 31 30
  • 92.28 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 88 (a)
ManyToMany
-- 31
  • 81 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ubqln1 17 31 30
  • 84.8 (n)
rat
(Rattus norvegicus)
Mammalia Ubqln1 30
  • 83.07 (n)
chicken
(Gallus gallus)
Aves -- 31
  • 82 (a)
OneToMany
UBQLN1 30
  • 79.34 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ubqln1 30
  • 74.18 (n)
MGC75576 30
fruit fly
(Drosophila melanogaster)
Insecta Ubqn 31 30
  • 54.14 (n)
ManyToMany
CG14224 32
  • 46 (a)
CG31528 31
  • 27 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004294 30
  • 52.86 (n)
worm
(Caenorhabditis elegans)
Secernentea ubql-1 31
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DSK2 31
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10824 31
  • 49 (a)
OneToMany
Species where no ortholog for UBQLN1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for UBQLN1: view image

Paralogs for UBQLN1 Gene

Paralogs for UBQLN1 Gene

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

  • UBQL1_HUMAN
  • H0YDS0_HUMAN
  • H0YEZ9_HUMAN
genes like me logo Genes that share paralogs with UBQLN1: view

Variants for UBQLN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBQLN1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs1060499753 Likely Pathogenic: Abnormality of brain morphology; not provided 83,683,021(-) AT/A FRAMESHIFT_VARIANT
rs764735825 Uncertain Significance: not provided 83,707,518(-) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for UBQLN1 Gene

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

Variant ID Type Subtype PubMed ID
esv3620902 CNV loss 21293372

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)

Additional Variant Information for UBQLN1 Gene

Human Gene Mutation Database (HGMD)
UBQLN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBQLN1

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

Disorders for UBQLN1 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UBQLN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Journal of human genetics 2000) 2 3 4 23 54
  2. Extremely rare incidence of the UBQLN1 polymorphism (UBQ-8i) in Taiwan Chinese with Alzheimer's disease. (PMID: 20350585) Chuo LJ … Kuo YM (Neuroscience letters 2010) 3 23 41 54
  3. Effects of ubiquilin 1 on the unfolded protein response. (PMID: 18953672) Lu A … Tanzi RE (Journal of molecular neuroscience : MN 2009) 3 4 23 54
  4. The ubiquitin-like protein PLIC-2 is a negative regulator of G protein-coupled receptor endocytosis. (PMID: 18199683) N'Diaye EN … Brown EJ (Molecular biology of the cell 2008) 3 4 23 54
  5. Analysis of UBQLN1 variants in a Polish Alzheimer's disease patient: control series. (PMID: 18340109) Golan MP … Barcikowska M (Dementia and geriatric cognitive disorders 2008) 3 23 41 54

Products for UBQLN1 Gene

Sources for UBQLN1 Gene