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UBQLN3 ubiquilin 3 [ Homo sapiens (human) ]

Gene ID: 50613, updated on 27-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
  • 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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