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UBQLN1 ubiquilin 1 [ Homo sapiens (human) ]

Gene ID: 29979, updated on 4-Oct-2020

Summary

Official Symbol
UBQLN1provided by HGNC
Official Full Name
ubiquilin 1provided by HGNC
Primary source
HGNC:HGNC:12508
See related
Ensembl:ENSG00000135018 MIM:605046
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DA41; DSK2; UBQN; XDRP1; PLIC-1
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 34.9), bone marrow (RPKM 27.8) and 25 other tissues See more
Orthologs

Genomic context

See UBQLN1 in Genome Data Viewer
Location:
9q21.32; 9q21.2-q21.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (83659968..83707979, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (86274878..86323168, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RNA, U4 small nuclear 15, pseudogene Neighboring gene IDNK gluconokinase Neighboring gene uncharacterized LOC105376114 Neighboring gene G kinase anchoring protein 1 Neighboring gene uncharacterized LOC101927552 Neighboring gene kinesin family member 27 Neighboring gene serine/arginine repetitive matrix protein 1-like

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90054

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
polyubiquitin modification-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aggrephagy IDA
Inferred from Direct Assay
more info
PubMed 
autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
autophagosome maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
macroautophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of store-operated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of toll-like receptor 3 signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ER-associated ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of macroautophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
response to endoplasmic reticulum stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-dependent ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
aggresome IDA
Inferred from Direct Assay
more info
PubMed 
autophagosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
proteasome complex IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
ubiquilin-1
Names
hPLIC-1
protein linking IAP with cytoskeleton 1
testicular tissue protein Li 219

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011519.1 RefSeqGene

    Range
    5296..53286
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_013438.5NP_038466.2  ubiquilin-1 isoform 1

    See identical proteins and their annotated locations for NP_038466.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AK074535, AL136643, BC039294, DA317805
    Consensus CDS
    CCDS6663.1
    UniProtKB/Swiss-Prot
    Q9UMX0
    Related
    ENSP00000365576.4, ENST00000376395.9
    Conserved Domains (4) summary
    smart00727
    Location:390422
    STI1; Heat shock chaperonin-binding motif
    cd01808
    Location:37107
    hPLIC_N; Ubiquitin-like domain of hPLIC-1 and hPLIC2
    smart00213
    Location:37107
    UBQ; Ubiquitin homologues
    cd14399
    Location:546585
    UBA_PLICs; UBA domain of eukaryotic protein linking integrin-associated protein (IAP, also known as CD47) with cytoskeleton (PLIC) proteins
  2. NM_053067.3NP_444295.1  ubiquilin-1 isoform 2

    See identical proteins and their annotated locations for NP_444295.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing an alternate 3' coding exon, compared to transcript variant 1. The resulting protein (isoform 2) is 28 aa shorter when compared to isoform 1.
    Source sequence(s)
    BC010066, BC039294, DA317805
    Consensus CDS
    CCDS6664.1
    UniProtKB/Swiss-Prot
    Q9UMX0
    UniProtKB/TrEMBL
    A0A024R258
    Related
    ENSP00000257468.7, ENST00000257468.11
    Conserved Domains (4) summary
    smart00727
    Location:182219
    STI1; Heat shock chaperonin-binding motif
    cd01808
    Location:37107
    hPLIC_N; Ubiquitin-like domain of hPLIC-1 and hPLIC2
    smart00213
    Location:37107
    UBQ; Ubiquitin homologues
    cd14399
    Location:518557
    UBA_PLICs; UBA domain of eukaryotic protein linking integrin-associated protein (IAP, also known as CD47) with cytoskeleton (PLIC) proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    83659968..83707979 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251948.3XP_005252005.1  ubiquilin-1 isoform X1

    Conserved Domains (3) summary
    smart00727
    Location:182219
    STI1; Heat shock chaperonin-binding motif
    cd01808
    Location:37107
    hPLIC_N; Ubiquitin-like domain of hPLIC-1 and hPLIC2
    smart00213
    Location:37107
    UBQ; Ubiquitin homologues
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