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Aliases for UBQLN4 Gene

Aliases for UBQLN4 Gene

  • Ubiquilin 4 2 3 5
  • 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
  • Ubiquilin-4 3
  • 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. Diseases associated with UBQLN4 include Spinocerebellar Ataxia 1. 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 UBQLN1.

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

Enhancers for UBQLN4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F156000 1 Ensembl ENCODE 11.8 +51.3 51347 3.6 HDGF CREB3L1 ARID4B SIN3A ZNF121 ZNF207 FOS KDM4B ZNF263 JUNB RIT1 RXFP4 KIAA0907 UBQLN4 LAMTOR2 SCARNA4 MEX3A LMNA SNORA80E GLMP
GH01F156004 0.8 Ensembl ENCODE 11.8 +48.7 48707 1.4 CTCF HDGF ELF3 SAP130 GLIS2 ZBTB48 POLR2A SCRT2 ZNF600 EGR2 RXFP4 KIAA0907 LAMTOR2 UBQLN4 SCARNA4 RIT1 LMNA MEX3A SNORA80E GLMP
GH01F156006 0.6 ENCODE 11.8 +47.0 46981 0.2 PKNOX1 NFRKB FEZF1 GLIS2 KLF7 EGR2 SP3 NCOA1 ZNF843 GLIS1 RXFP4 KIAA0907 LAMTOR2 UBQLN4 SCARNA4 LMNA MEX3A SNORA80E GLMP ARHGEF2
GH01F156007 0.6 ENCODE 11.8 +46.7 46661 0.2 BRD4 KLF1 NFRKB GTF2E2 FEZF1 ZIC2 HIC1 POLR2A KLF7 PRDM10 RXFP4 KIAA0907 LAMTOR2 UBQLN4 SCARNA4 MEX3A LMNA SNORA80E GLMP ARHGEF2
GH01F156099 2 VISTA FANTOM5 ENCODE 11.4 -50.3 -50341 8.4 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS LMNA MEX3A LAMTOR2 UBQLN4 KIAA0907 RXFP4 FAM189B RIT1 YY1AP1 MEF2D
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around UBQLN4 on UCSC Golden Path with GeneCards custom track

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

Genes around UBQLN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBQLN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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:

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
cytosol 5
endoplasmic reticulum 5
nucleus 5
vacuole 5
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for UBQLN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11001934
GO:0005737 cytoplasm IEA,IDA 11001934
GO:0005776 autophagosome IEA,IDA 23459205
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,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

Transcripts for UBQLN4 Gene

Unigene Clusters for UBQLN4 Gene

Ubiquilin 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for UBQLN4 Gene



Protein tissue co-expression partners for UBQLN4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBQLN4 Gene:

UBQLN4

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia UBQLN4 34 35
  • 97.25 (n)
cow
(Bos Taurus)
Mammalia UBQLN4 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBQLN4 34 35
  • 92.68 (n)
mouse
(Mus musculus)
Mammalia Ubqln4 34 16 35
  • 90.03 (n)
rat
(Rattus norvegicus)
Mammalia Ubqln4 34
  • 89.69 (n)
oppossum
(Monodelphis domestica)
Mammalia UBQLN4 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBQLN4 34 35
  • 78.96 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ubqln4 34
  • 72.8 (n)
LOC395047 34
African clawed frog
(Xenopus laevis)
Amphibia ubin-pending-prov 34
zebrafish
(Danio rerio)
Actinopterygii ubqln4 34 35
  • 69.04 (n)
wufb48e11 34
fruit fly
(Drosophila melanogaster)
Insecta Ubqn 35
  • 50 (a)
ManyToMany
CG31528 35
  • 27 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ubql-1 35
  • 37 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DSK2 35
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10824 35
  • 49 (a)
OneToMany
Species where no ortholog for UBQLN4 was found in the sources mined by GeneCards:
  • 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
rs10157633 -- 156,048,392(+) CACCC(C/T)TCAGG intron-variant
rs10158536 -- 156,047,093(+) AACAA(A/G)ATACT intron-variant
rs10796957 -- 156,052,100(+) AGCCC(C/T)TGCTG intron-variant
rs10919 -- 156,035,640(+) AGGGG(C/G)TCTGG nc-transcript-variant, utr-variant-3-prime
rs111226880 -- 156,054,293(+) CCTAG(G/T)TTCTC upstream-variant-2KB

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: 50.4% 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

Human Gene Mutation Database (HGMD)
UBQLN4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBQLN4

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

Disorders for UBQLN4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UBQLN4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia 1
  • spinocerebellar ataxia type 1
- elite association - COSMIC cancer census association via MalaCards

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 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 3 4 22 64
  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) 3 4 22 64
  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 3 4 64
  4. Ubiquilin4 is an adaptor protein that recruits Ubiquilin1 to the autophagy machinery. (PMID: 23459205) Lee D.Y. … Brown E.J. (EMBO Rep. 2013) 3 4 64
  5. Herp enhances ER-associated protein degradation by recruiting ubiquilins. (PMID: 18307982) Kim T.Y. … Yoon J.B. (Biochem. Biophys. Res. Commun. 2008) 3 4 64

Products for UBQLN4 Gene

Sources for UBQLN4 Gene

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