Aliases for UBQLNL Gene

Aliases for UBQLNL Gene

  • Ubiquilin Like 2 3 5
  • Ubiquilin-Like Protein 3 4
  • MGC20470 2
  • MGC26958 2
  • UBQLNL 5

External Ids for UBQLNL Gene

Previous GeneCards Identifiers for UBQLNL Gene

  • GC11M005511
  • GC11M005517
  • GC11M005520
  • GC11M005527
  • GC11M005535
  • GC11M005547
  • GC11M005193

Summaries for UBQLNL Gene

GeneCards Summary for UBQLNL Gene

UBQLNL (Ubiquilin Like) is a Protein Coding gene. Diseases associated with UBQLNL include Brown-Vialetto-Van Laere Syndrome and Spinocerebellar Ataxia 1. An important paralog of this gene is UBQLN1.

Additional gene information for UBQLNL Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBQLNL Gene

Genomics for UBQLNL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UBQLNL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J005518 Enhancer 0.3 FANTOM5 661.7 -0.1 -109 0.1 ATF2 UBQLNL UBQLN3 OLFM5P OR52H1 ENSG00000239920
GH11J005504 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 17 +13.4 13400 2.5 ARHGAP35 IKZF1 JUND DDX20 PKNOX1 DPF2 HDAC1 SOX6 TCF12 GTF2E2 HBE1 HBG2 OR51B5 lnc-HBE1-1 DNHD1 UBQLNL FAM160A2 OR52D1 ENSG00000239920
GH11J005618 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 14.8 -101.9 -101918 3.8 IKZF1 ZNF7 FOXA1 REST CEBPA EP300 SCRT2 SP1 CEBPB CTBP1 TRIM34 TRIM5 UBQLNL ENSG00000239920 HBG2 TRIM6 TRIM22 lnc-OR52H1-1 TRIM6-TRIM34
GH11J005550 Enhancer 0.8 Ensembl ENCODE 5.3 -32.5 -32470 1.4 JUND FOS FOSL1 CUX1 FOSL2 BHLHE40 DPF2 ATF3 JUN MTA2 OR52H2P lnc-OR52H1-2 OR51B5 HBE1 HBG2 TRIM6 OR52D1 OR51I2 OLFM5P UBQLNL
GH11J006503 Enhancer 0.3 Ensembl 10.3 -984.7 -984670 0.2 ZNF707 piR-48759-037 TIMM10B DNHD1 ARFIP2 APBB1 ILK RRP8 SMPD1 UBQLNL FAM160A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBQLNL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBQLNL

Top Transcription factor binding sites by QIAGEN in the UBQLNL gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-1
  • p300
  • POU2F1
  • POU2F1a

Genomic Locations for UBQLNL Gene

Genomic Locations for UBQLNL Gene
chr11:5,514,393-5,518,431
(GRCh38/hg38)
Size:
4,039 bases
Orientation:
Minus strand
chr11:5,535,623-5,537,956
(GRCh37/hg19)
Size:
2,334 bases
Orientation:
Minus strand

Genomic View for UBQLNL Gene

Genes around UBQLNL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBQLNL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBQLNL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBQLNL Gene

Proteins for UBQLNL Gene

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

    Protein Symbol:
    Q8IYU4-UBQLN_HUMAN
    Recommended name:
    Ubiquilin-like protein
    Protein Accession:
    Q8IYU4
    Secondary Accessions:
    • Q6ZRU1
    • Q96EK3
    • Q96MB0

    Protein attributes for UBQLNL Gene

    Size:
    475 amino acids
    Molecular mass:
    52897 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC87218.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};

    Alternative splice isoforms for UBQLNL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBQLNL Gene

Post-translational modifications for UBQLNL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UBQLNL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UBQLNL Gene

Domains & Families for UBQLNL Gene

Gene Families for UBQLNL Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for UBQLNL Gene

InterPro:
Blocks:
  • Ubiquitin domain
ProtoNet:

Suggested Antigen Peptide Sequences for UBQLNL Gene

GenScript: Design optimal peptide antigens:
  • Ubiquilin-like protein (UBQLN_HUMAN)
genes like me logo Genes that share domains with UBQLNL: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for UBQLNL Gene

Function for UBQLNL Gene

Phenotypes From GWAS Catalog for UBQLNL Gene

Gene Ontology (GO) - Molecular Function for UBQLNL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0031593 polyubiquitin modification-dependent protein binding IBA 21873635
genes like me logo Genes that share ontologies with UBQLNL: view
genes like me logo Genes that share phenotypes with UBQLNL: view

Animal Models for UBQLNL Gene

MGI Knock Outs for UBQLNL:
  • Ubqlnl Ubqlnl<tm1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBQLNL

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBQLNL Gene

Localization for UBQLNL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBQLNL gene
Compartment Confidence
cytosol 4
mitochondrion 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for UBQLNL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IBA 21873635
genes like me logo Genes that share ontologies with UBQLNL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for UBQLNL Gene

Pathways & Interactions for UBQLNL Gene

PathCards logo

SuperPathways for UBQLNL Gene

No Data Available

Gene Ontology (GO) - Biological Process for UBQLNL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IBA 21873635
genes like me logo Genes that share ontologies with UBQLNL: view

No data available for Pathways by source and SIGNOR curated interactions for UBQLNL Gene

Drugs & Compounds for UBQLNL Gene

No Compound Related Data Available

Transcripts for UBQLNL Gene

mRNA/cDNA for UBQLNL Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBQLNL

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

No ASD Table

Relevant External Links for UBQLNL Gene

GeneLoc Exon Structure for
UBQLNL

Expression for UBQLNL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBQLNL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for UBQLNL Gene

This gene is overexpressed in Testis (x26.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBQLNL

SOURCE GeneReport for Unigene cluster for UBQLNL Gene:

Hs.10688
genes like me logo Genes that share expression patterns with UBQLNL: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBQLNL Gene

Orthologs for UBQLNL Gene

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

Orthologs for UBQLNL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UBQLNL 30 31
  • 98.95 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UBQLNL 30 31
  • 81.29 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UBQLNL 30 31
  • 79.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ubqlnl 30 17 31
  • 73.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ubqlnl 30
  • 72.85 (n)
Oppossum
(Monodelphis domestica)
Mammalia UBQLNL 31
  • 32 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 22 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 19 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Ubqn 31
  • 20 (a)
ManyToMany
CG31528 31
  • 15 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea ubql-1 31
  • 21 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DSK2 31
  • 18 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10824 31
  • 20 (a)
OneToMany
Species where no ortholog for UBQLNL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for UBQLNL Gene

ENSEMBL:
Gene Tree for UBQLNL (if available)
TreeFam:
Gene Tree for UBQLNL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBQLNL: view image

Paralogs for UBQLNL Gene

Paralogs for UBQLNL Gene

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

Variants for UBQLNL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBQLNL Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
709839 Benign: not provided 5,516,206(-) AGAAGGCAACCCAT/A FRAMESHIFT_VARIANT
715486 Benign: not provided 5,515,318(-) C/T MISSENSE_VARIANT
715487 Benign: not provided 5,515,529(-) G/A NONSENSE
rs12223282 - p.Gln455Glu
rs16932225 - p.Gly259Asp

Additional dbSNP identifiers (rs#s) for UBQLNL Gene

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

Variant ID Type Subtype PubMed ID
esv3625230 CNV loss 21293372
nsv1046068 CNV gain 25217958
nsv1048608 CNV gain 25217958
nsv510997 OTHER complex 20534489
nsv553240 CNV loss 21841781
nsv553241 CNV gain 21841781
nsv832057 CNV loss 17160897

Variation tolerance for UBQLNL Gene

Residual Variation Intolerance Score: 94.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.73; 73.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBQLNL Gene

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

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

Disorders for UBQLNL Gene

MalaCards: The human disease database

(2) MalaCards diseases for UBQLNL Gene - From: DISEASES

Disorder Aliases PubMed IDs
brown-vialetto-van laere syndrome
  • pontobulbar palsy with deafness
spinocerebellar ataxia 1
  • sca1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UBQLNL

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

No data available for UniProtKB/Swiss-Prot and Genatlas for UBQLNL Gene

Publications for UBQLNL Gene

  1. The ubiquilin gene family: evolutionary patterns and functional insights. (PMID: 24674348) Marín I (BMC evolutionary biology 2014) 2 3
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3

Products for UBQLNL Gene

Sources for UBQLNL Gene