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Aliases for UBQLN4 Gene

Aliases for UBQLN4 Gene

  • Ubiquilin 4 2 3
  • Ataxin-1 Ubiquitin-Like-Interacting Protein A1U 3 4
  • Ataxin-1 Ubiquitin-Like Interacting Protein 2 3
  • Ataxin-1 Interacting Ubiquitin-Like Protein 3 4
  • Connexin43-Interacting Protein Of 75 KDa 3 4
  • C1orf6 3 4
  • CIP75 3 4
  • A1Up 3 4
  • UBIN 3 4
  • Chromosome 1 Open Reading Frame 6 2
  • A1U 3

External Ids for UBQLN4 Gene

Previous HGNC Symbols for UBQLN4 Gene

  • C1orf6

Previous GeneCards Identifiers for UBQLN4 Gene

  • GC00U920633
  • GC01M152819
  • GC01M154271
  • GC01M156005
  • GC01M127367

Summaries for UBQLN4 Gene

GeneCards Summary for UBQLN4 Gene

UBQLN4 (Ubiquilin 4) is a Protein Coding gene. Among its related pathways are Protein processing in endoplasmic reticulum. GO annotations related to this gene include identical protein binding and damaged DNA binding. An important paralog of this gene is UBQLN3.

UniProtKB/Swiss-Prot for UBQLN4 Gene

  • Plays a role in the regulation of protein degradation via the ubiquitin-proteasome system (UPS). Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (Ref. 6). Plays a role in the regulation of the proteasomal degradation of non-ubiquitinated GJA1 (By similarity). Acts as an adapter protein that recruits UBQLN1 to the autophagy machinery. Mediates the association of UBQLN1 with autophagosomes and the autophagy-related protein LC3 (MAP1LC3A/B/C) and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:23459205).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBQLN4 Gene

Genomics for UBQLN4 Gene

Regulatory Elements for UBQLN4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for UBQLN4 Gene

Chromosome:
1
Start:
156,033,135 bp from pter
End:
156,053,825 bp from pter
Size:
20,691 bases
Orientation:
Minus strand

Genomic View for UBQLN4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UBQLN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBQLN4 Gene

Proteins for UBQLN4 Gene

  • Protein details for UBQLN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRR5-UBQL4_HUMAN
    Recommended name:
    Ubiquilin-4
    Protein Accession:
    Q9NRR5
    Secondary Accessions:
    • A6ND44
    • B2RAY7
    • Q5VYA0
    • Q5VYA1
    • Q9BR98
    • Q9UHX4

    Protein attributes for UBQLN4 Gene

    Size:
    601 amino acids
    Molecular mass:
    63853 Da
    Quaternary structure:
    • Homooligomer (Ref. 6). Binds signal sequences of proteins that are targeted to the endoplasmic reticulum. Interacts (via UBA domain) with GJA1 (not ubiquitinated) and with ubiquitin; both compete for the same binding site. Interacts (via UBA domain) with ubiquitin and with polyubiquitin chains. Interacts with PSMD2 (By similarity). Interacts (via ubiquitin-like domain) with PSMD4, a regulatory subunit of the 26S proteasome. Interacts with ATXN1/SCA1. Interaction with ATXN1 inhibits polyubiquitination of UBQLN4 and interferes with PSMD4 binding. Interacts with HERPUD1. Interacts (via ubiquitin-like domain) with UBQLN1 (via UBA domain). Interacts (via STI1 1 and 2 domains) with MAP1LC3A/B/C. Interacts with UBQLN2.
    SequenceCaution:
    • Sequence=AAF19084.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH06410.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for UBQLN4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBQLN4 Gene

Proteomics data for UBQLN4 Gene at MOPED

Post-translational modifications for UBQLN4 Gene

  • Ubiquitinated; this does not lead to proteasomal degradation. May undergo both Lys-48- and Lys-63-linked polyubiquitination.
  • Ubiquitination at Lys 46 and Lys 59
  • Modification sites at PhosphoSitePlus

Other Protein References for UBQLN4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for UBQLN4 Gene

Domains & Families for UBQLN4 Gene

Gene Families for UBQLN4 Gene

Suggested Antigen Peptide Sequences for UBQLN4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NRR5

UniProtKB/Swiss-Prot:

UBQL4_HUMAN :
  • Contains 4 STI1 domains.
Domain:
  • Contains 4 STI1 domains.
  • Contains 1 UBA domain.
  • Contains 1 ubiquitin-like domain.
genes like me logo Genes that share domains with UBQLN4: view

Function for UBQLN4 Gene

Molecular function for UBQLN4 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the regulation of protein degradation via the ubiquitin-proteasome system (UPS). Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (Ref. 6). Plays a role in the regulation of the proteasomal degradation of non-ubiquitinated GJA1 (By similarity). Acts as an adapter protein that recruits UBQLN1 to the autophagy machinery. Mediates the association of UBQLN1 with autophagosomes and the autophagy-related protein LC3 (MAP1LC3A/B/C) and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:23459205).

Gene Ontology (GO) - Molecular Function for UBQLN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11001934
GO:0031593 polyubiquitin binding IDA 15280365
GO:0042802 identical protein binding IPI 11001934
genes like me logo Genes that share ontologies with UBQLN4: view
genes like me logo Genes that share phenotypes with UBQLN4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UBQLN4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for UBQLN4 Gene

Localization for UBQLN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBQLN4 Gene

Nucleus. Cytoplasm. Endoplasmic reticulum. Cytoplasm, perinuclear region. Cytoplasmic vesicle, autophagosome. Note=Colocalizes with the proteasome, both in nucleus and cytoplasm. {ECO:0000269 PubMed:15280365}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBQLN4 Gene COMPARTMENTS Subcellular localization image for UBQLN4 gene
Compartment Confidence
nucleus 5
vacuole 5
cytosol 4
endoplasmic reticulum 4

Gene Ontology (GO) - Cellular Components for UBQLN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11001934
GO:0005737 cytoplasm IDA 11001934
GO:0005776 autophagosome IDA 23459205
GO:0005789 endoplasmic reticulum membrane ISS --
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with UBQLN4: view

Pathways & Interactions for UBQLN4 Gene

genes like me logo Genes that share pathways with UBQLN4: view

Pathways by source for UBQLN4 Gene

1 KEGG pathway for UBQLN4 Gene

Gene Ontology (GO) - Biological Process for UBQLN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
GO:0032434 regulation of proteasomal ubiquitin-dependent protein catabolic process IMP 15280365
GO:1901097 negative regulation of autophagosome maturation IMP 23459205
genes like me logo Genes that share ontologies with UBQLN4: view

No data available for SIGNOR curated interactions for UBQLN4 Gene

Drugs & Compounds for UBQLN4 Gene

No Compound Related Data Available

Transcripts for UBQLN4 Gene

Unigene Clusters for UBQLN4 Gene

Ubiquilin 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UBQLN4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBQLN4 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15
SP1: -
SP2:
SP3: - -
SP4: - - -
SP5: - -
SP6: -
SP7:
SP8:

Relevant External Links for UBQLN4 Gene

GeneLoc Exon Structure for
UBQLN4
ECgene alternative splicing isoforms for
UBQLN4

Expression for UBQLN4 Gene

mRNA expression in normal human tissues for UBQLN4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBQLN4 Gene

This gene is overexpressed in Bone (16.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UBQLN4 Gene



SOURCE GeneReport for Unigene cluster for UBQLN4 Gene Hs.283739

mRNA Expression by UniProt/SwissProt for UBQLN4 Gene

Q9NRR5-UBQL4_HUMAN
Tissue specificity: Highly expressed in pancreas, kidney, skeletal muscle, heart and throughout the brain, and at lower levels in placenta, lung and liver.
genes like me logo Genes that share expression patterns with UBQLN4: view

Protein tissue co-expression partners for UBQLN4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for UBQLN4 Gene

Orthologs for UBQLN4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UBQLN4 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia UBQLN4 35
  • 92.68 (n)
  • 96.17 (a)
UBQLN4 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ubqln4 35
  • 90.03 (n)
  • 92.27 (a)
Ubqln4 16
Ubqln4 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBQLN4 35
  • 97.25 (n)
  • 96.73 (a)
UBQLN4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ubqln4 35
  • 89.69 (n)
  • 91.6 (a)
cow
(Bos Taurus)
Mammalia UBQLN4 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBQLN4 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBQLN4 35
  • 78.96 (n)
  • 85.45 (a)
UBQLN4 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC395047 35
ubqln4 35
  • 72.8 (n)
  • 76.88 (a)
African clawed frog
(Xenopus laevis)
Amphibia ubin-pending-prov 35
zebrafish
(Danio rerio)
Actinopterygii ubqln4 35
  • 69.04 (n)
  • 74.33 (a)
wufb48e11 35
ubqln4 36
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31528 36
  • 27 (a)
ManyToMany
Ubqn 36
  • 50 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ubql-1 36
  • 37 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DSK2 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10824 36
  • 49 (a)
OneToMany
Species with no ortholog for UBQLN4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for UBQLN4 Gene

ENSEMBL:
Gene Tree for UBQLN4 (if available)
TreeFam:
Gene Tree for UBQLN4 (if available)

Paralogs for UBQLN4 Gene

Paralogs for UBQLN4 Gene

(2) SIMAP similar genes for UBQLN4 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for UBQLN4 Gene

genes like me logo Genes that share paralogs with UBQLN4: view

Variants for UBQLN4 Gene

Sequence variations from dbSNP and Humsavar for UBQLN4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs10919 -- 156,035,640(+) AGGGG(C/G)TCTGG utr-variant-3-prime, intron-variant
rs2095402 -- 156,037,386(+) GTCAG(A/G)AGATC intron-variant
rs2297792 - 156,041,653(-) GGGAT(A/G)TCCCG reference, missense, nc-transcript-variant
rs3820592 -- 156,036,222(-) AATTA(A/G)CAGTG utr-variant-3-prime, intron-variant
rs7517202 -- 156,034,881(+) TTTTT(C/T)CTTTT downstream-variant-500B, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UBQLN4 Gene

Variant ID Type Subtype PubMed ID
nsv509513 CNV Insertion 20534489

Variation tolerance for UBQLN4 Gene

Residual Variation Intolerance Score: 50.41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.69; 94.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBQLN4 Gene

HapMap Linkage Disequilibrium report
UBQLN4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBQLN4 Gene

Disorders for UBQLN4 Gene

Relevant External Links for UBQLN4

Genetic Association Database (GAD)
UBQLN4
Human Genome Epidemiology (HuGE) Navigator
UBQLN4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBQLN4
genes like me logo Genes that share disorders with UBQLN4: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UBQLN4 Gene

Publications for UBQLN4 Gene

  1. Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein. (PMID: 11001934) Davidson J.D. … Orr H.T. (Hum. Mol. Genet. 2000) 2 23 67
  2. The effects of the polyglutamine repeat protein ataxin-1 on the UbL- UBA protein A1Up. (PMID: 15280365) Riley B.E. … Orr H.T. (J. Biol. Chem. 2004) 23 67
  3. Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes. (PMID: 10575211) Fogli A. … Carrozzo R. (Cytogenet. Cell Genet. 1999) 2 67
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67

Products for UBQLN4 Gene

Sources for UBQLN4 Gene

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