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    UBQLN3 ubiquilin 3 [ Homo sapiens (human) ]

    Gene ID: 50613, updated on 14-Nov-2024

    Summary

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    Official Symbol
    UBQLN3provided by HGNC
    Official Full Name
    ubiquilin 3provided by HGNC
    Primary source
    HGNC:HGNC:12510
    See related
    Ensembl:ENSG00000175520 MIM:605473; AllianceGenome:HGNC:12510
    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
    TUP-1
    Summary
    This gene encodes a 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 are thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This gene is specifically expressed in the testis. It has been suggested that this gene may regulate cell-cycle progression during spermatogenesis, however, it has been shown that the ortholgous mouse gene is dispensable for embryonic development and spermatogenesis. [provided by RefSeq, Nov 2016]
    Expression
    Restricted expression toward testis (RPKM 82.9) See more
    Orthologs
    all
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    Genomic context

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    See UBQLN3 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5507300..5509957, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5566642..5569299, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5528530..5531187, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 51 subfamily B member 5 Neighboring gene olfactory receptor family 51 subfamily A member 10 pseudogene Neighboring gene olfactory receptor family 52 subfamily D member 1 Neighboring gene ubiquilin like Neighboring gene olfactomedin family member 5, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Potential biomarkers of nonobstructive azoospermia identified in microarray gene expression analysis. Malcher A, et al. Fertil Steril, 2013 Dec. PMID 24012201
    2. Molecular cloning, chromosome mapping and characterization of UBQLN3 a testis-specific gene that contains an ubiquitin-like domain. Conklin D, et al. Gene, 2000 May 16. PMID 10831842
    3. Ubqln3, a testis-specific gene, is dispensable for embryonic development and spermatogenesis in mice. Yuan S, et al. Mol Reprod Dev, 2015 Apr. PMID 25776854, Free PMC Article
    4. Identification of the cancer/testis antigens AKAP3 and CTp11 by SEREX in hepatocellular carcinoma. Song MH, et al. Oncol Rep, 2012 Nov. PMID 22941507
    5. MicroRNA-targeting in spermatogenesis: Over-expressions of microRNA-23a/b-3p and its affected targeting of the genes ODF2 and UBQLN3 in spermatozoa of patients with oligoasthenozoospermia. Abu-Halima M, et al. Andrology, 2021 Jul. PMID 33784796

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MicroRNA-targeting in spermatogenesis: Over-expressions of microRNA-23a/b-3p and its affected targeting of the genes ODF2 and UBQLN3 in spermatozoa of patients with oligoasthenozoospermia.
      Title: MicroRNA-targeting in spermatogenesis: Over-expressions of microRNA-23a/b-3p and its affected targeting of the genes ODF2 and UBQLN3 in spermatozoa of patients with oligoasthenozoospermia.
    2. Functional analysis of the orthologous mouse gene.
      Title: Ubqln3, a testis-specific gene, is dispensable for embryonic development and spermatogenesis in mice.
    3. Includes the identification of the ubiquilin 3 gene upstream of the beta-globin gene cluster and surrounding olfactory receptor genes.
      Title: Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin gene clusters.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables polyubiquitin modification-dependent protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of proteasomal protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ubiquilin-3
    Names
    testicular tissue protein Li 220

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001347096.2 → NP_001334025.1  ubiquilin-3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA725499, BC036743, BF979648, BI828244, HM005533
      Consensus CDS
      CCDS7758.1
      UniProtKB/Swiss-Prot
      Q9H347, Q9NRE0
      UniProtKB/TrEMBL
      A0A140VJZ3

    2. NM_017481.4 → NP_059509.1  ubiquilin-3

      See identical proteins and their annotated locations for NP_059509.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA725499, BC036743, BF979648, HM005533
      Consensus CDS
      CCDS7758.1
      UniProtKB/Swiss-Prot
      Q9H347, Q9NRE0
      UniProtKB/TrEMBL
      A0A140VJZ3
      Related
      ENSP00000347997.2, ENST00000311659.5
      Conserved Domains (4) summary
      smart00213
      Location:22 → 92
      UBQ; Ubiquitin homologues
      cd14399
      Location:615 → 654
      UBA_PLICs; UBA domain of eukaryotic protein linking integrin-associated protein (IAP, also known as CD47) with cytoskeleton (PLIC) proteins
      cl00155
      Location:22 → 92
      UBQ; Ubiquitin-like proteins
      cl19831
      Location:540 → 645
      PilP; Pilus assembly protein, PilP

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      5507300..5509957 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520145.3 → XP_011518447.1  ubiquilin-3 isoform X1

      Conserved Domains (4) summary
      smart00213
      Location:22 → 92
      UBQ; Ubiquitin homologues
      cd14399
      Location:462 → 501
      UBA_PLICs; UBA domain of eukaryotic protein linking integrin-associated protein (IAP, also known as CD47) with cytoskeleton (PLIC) proteins
      cl00155
      Location:22 → 92
      UBQ; Ubiquitin-like proteins
      cl19831
      Location:387 → 492
      PilP; Pilus assembly protein, PilP

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      5566642..5569299 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369022.1 → XP_054224997.1  ubiquilin-3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H347.2 GenPept UniProtKB/Swiss-Prot:Q9H347

    Gene LinkOut

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