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Aliases for UBQLN1 Gene

Aliases for UBQLN1 Gene

  • Ubiquilin 1 2 3
  • DA41 3 4 6
  • Protein Linking IAP With Cytoskeleton 1 3 4
  • HPLIC-1 3 4
  • PLIC-1 3 4
  • Ubiquilin-1 3
  • XDRP1 3
  • PLIC1 4
  • DSK2 3
  • UBQN 3

External Ids for UBQLN1 Gene

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 kinase binding. An important paralog of this gene is UBQLN3.

UniProtKB/Swiss-Prot for UBQLN1 Gene

  • Links CD47 to the cytoskeleton. Promotes the surface expression of GABA-A receptors. Promotes the accumulation of uncleaved PSEN1 and PSEN2 by stimulating their biosynthesis. Has no effect on PSEN1 and PSEN2 degradation

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

Genomic Location for UBQLN1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UBQLN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBQLN1 Gene

Regulatory Elements 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:
    • Binds CD47, NBL1, GABRA1, GABRA2, GABRA3, GABRA6, GABRB1, GABRB2 and GABRB3. Binds UBE3A, BTRC, P4HB, MTOR, PSEN1 and PSEN2. Interacts with the proteasome 19S subunit. Interacts (via ubiquitin-like domain) with TREX1; the interaction is direct and may control TREX1 subcellular location.

    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

No data available for DME Specific Peptides for UBQLN1 Gene

Domains for UBQLN1 Gene

Gene Families for UBQLN1 Gene

HGNC:
  • UBQLN :Ubiquilin family

UniProtKB/Swiss-Prot:

UBQL1_HUMAN
Domain:
  • The UBA domain mediates binding to PSEN1 and PSEN2. It also binds ubiquitin with micromolar affinity, independently of polyubiquitin linkage type:
    • Q9UMX0
  • Contains 1 UBA domain.:
    • Q9UMX0
  • Contains 1 ubiquitin-like domain.:
    • Q9UMX0
genes like me logo Genes that share domains with UBQLN1: view

Function for UBQLN1 Gene

Molecular function for UBQLN1 Gene

UniProtKB/Swiss-Prot Function: Links CD47 to the cytoskeleton. Promotes the surface expression of GABA-A receptors. Promotes the accumulation of uncleaved PSEN1 and PSEN2 by stimulating their biosynthesis. Has no effect on PSEN1 and PSEN2 degradation

Gene Ontology (GO) - Molecular Function for UBQLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 damaged DNA binding --
GO:0005488 binding --
GO:0005515 protein binding IPI 11076969
GO:0019900 kinase binding IPI 11853878
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with UBQLN1: view

miRNA for UBQLN1 Gene

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for UBQLN1 Gene

Localization for UBQLN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBQLN1 Gene

Cytoplasm. Nucleus. Note=Detected in neuronal processes and at synapses (By similarity). Detected in cytosolic puncta that may correspond to autophagosomes. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBQLN1 Gene COMPARTMENTS Subcellular localization image for UBQLN1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 4
cytosol 3
vacuole 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for UBQLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IEA --
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IMP 12634373
GO:0005776 autophagic vacuole IDA 20529957
genes like me logo Genes that share ontologies with UBQLN1: view

Pathways 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:0006289 nucleotide-excision repair --
GO:0016241 regulation of macroautophagy IMP 20529957
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IMP 19822669
GO:0031396 regulation of protein ubiquitination IDA 12634373
GO:0034976 response to endoplasmic reticulum stress IMP 12095988
genes like me logo Genes that share ontologies with UBQLN1: view

Compounds for UBQLN1 Gene

(1) Novoseek inferred chemical compound relationships for UBQLN1 Gene

Compound -log(P) Hits PubMed IDs
glutamine 14.1 1
genes like me logo Genes that share compounds with UBQLN1: view

Transcripts for UBQLN1 Gene

Unigene Clusters for UBQLN1 Gene

Ubiquilin 1:
Representative Sequences:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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: 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 expressions with UBQLN1: view

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 36
  • 99.77 (n)
  • 99.83 (a)
UBQLN1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UBQLN1 36
  • 92.28 (n)
  • 94.72 (a)
UBQLN1 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBQLN1 36
  • 93.66 (n)
  • 95.93 (a)
UBQLN1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ubqln1 36
  • 84.8 (n)
  • 89.81 (a)
Ubqln1 16
Ubqln1 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 88 (a)
ManyToMany
-- 37
  • 81 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 87 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ubqln1 36
  • 83.07 (n)
  • 87.74 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 82 (a)
OneToMany
UBQLN1 36
  • 79.34 (n)
  • 84.68 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75576 36
ubqln1 36
  • 74.18 (n)
  • 81.14 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004294 36
  • 52.86 (n)
  • 51.17 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31528 37
  • 27 (a)
ManyToMany
Ubqn 36
  • 54.14 (n)
  • 55.19 (a)
Ubqn 37
  • 50 (a)
ManyToMany
CG14224 38
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea ubql-1 37
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DSK2 37
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10824 37
  • 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

Selected 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 MAF
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

Relevant External Links for UBQLN1 Gene

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

Disorders for UBQLN1 Gene

(2) University of Copenhagen DISEASES for UBQLN1 Gene

(3) Novoseek inferred disease relationships for UBQLN1 Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 68 15
neurodegenerative diseases 43.4 1
tumors 0 1

Relevant External Links for UBQLN1

Genetic Association Database (GAD)
UBQLN1
Human Genome Epidemiology (HuGE) Navigator
UBQLN1
genes like me logo Genes that share disorders with UBQLN1: view

No data available for UniProtKB/Swiss-Prot 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
  2. The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome. (PMID: 10983987) Kleijnen M.F. … Howley P.M. (Mol. Cell 2000) 3 4 23
  3. The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years. (PMID: 16214290) Brouwers N. … Dermaut B. (Neurosci. Lett. 2006) 3 23 49
  4. Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease. (PMID: 16278862) Smemo S. … Goate A. (Ann. Neurol. 2006) 3 23 49
  5. Genetic association of ubiquilin with Alzheimer's disease and related quantitative measures. (PMID: 16302009) Kamboh M.I. … DeKosky S.T. (Mol. Psychiatry 2006) 3 23 49

Products for UBQLN1 Gene

Sources for UBQLN1 Gene

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