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    UBQLN1 ubiquilin 1 [ Homo sapiens (human) ]

    Gene ID: 29979, updated on 9-Jun-2016
    Official Symbol
    UBQLN1provided by HGNC
    Official Full Name
    ubiquilin 1provided by HGNC
    Primary source
    HGNC:HGNC:12508
    See related
    Ensembl:ENSG00000135018 HPRD:05440; MIM:605046; Vega:OTTHUMG00000020104
    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]
    Orthologs
    Location:
    9q22; 9q21.2-q21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (83659963..83708253, 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    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 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    aggresome IDA
    Inferred from Direct Assay
    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
     
    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 complex IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    ubiquilin-1
    Names
    hPLIC-1
    protein linking IAP with cytoskeleton 1
    testicular tissue protein Li 219

    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
      5001..53291
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_013438.4NP_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
      UniProtKB/TrEMBL
      A0A024R284
      Related
      ENSP00000365576, OTTHUMP00000021544, ENST00000376395, OTTHUMT00000052834
      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_053067.2NP_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, OTTHUMP00000021545, ENST00000257468, OTTHUMT00000052835
      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 Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      83659963..83708253 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251948.2XP_005252005.1  

      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

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      86421618..86469907 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)