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Aliases for UBE2QL1 Gene

Aliases for UBE2QL1 Gene

  • Ubiquitin Conjugating Enzyme E2 Q Family Like 1 2 3
  • Ubiquitin Conjugating Enzyme E2Q Family-Like 1 2 5
  • Ubiquitin-Conjugating Enzyme E2Q Family-Like 1 2
  • E2Q-Like Ubiquitin-Conjugating Enzyme 1 4
  • EC 2.3.2.23 4

External Ids for UBE2QL1 Gene

Summaries for UBE2QL1 Gene

GeneCards Summary for UBE2QL1 Gene

UBE2QL1 (Ubiquitin Conjugating Enzyme E2 Q Family Like 1) is a Protein Coding gene. Diseases associated with UBE2QL1 include Cri-Du-Chat Syndrome. Among its related pathways are Antigen processing- Ubiquitination and Proteasome degradation and protein ubiquitylation. GO annotations related to this gene include ligase activity and ubiquitin conjugating enzyme activity. An important paralog of this gene is UBE2Q2.

UniProtKB/Swiss-Prot for UBE2QL1 Gene

  • Probable E2 ubiquitin-protein ligase that catalyzes the covalent attachment of ubiquitin to target proteins. May facilitate the monoubiquitination and degradation of MTOR and CCNE1 through interaction with FBXW7.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBE2QL1 Gene

Genomics for UBE2QL1 Gene

Regulatory Elements for UBE2QL1 Gene

Enhancers for UBE2QL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around UBE2QL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for UBE2QL1 Gene

Chromosome:
5
Start:
6,437,347 bp from pter
End:
6,496,721 bp from pter
Size:
59,375 bases
Orientation:
Plus strand

Genomic View for UBE2QL1 Gene

Genes around UBE2QL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE2QL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBE2QL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE2QL1 Gene

Proteins for UBE2QL1 Gene

  • Protein details for UBE2QL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A1L167-U2QL1_HUMAN
    Recommended name:
    Ubiquitin-conjugating enzyme E2Q-like protein 1
    Protein Accession:
    A1L167

    Protein attributes for UBE2QL1 Gene

    Size:
    161 amino acids
    Molecular mass:
    18338 Da
    Quaternary structure:
    • Interacts with FBXW7.
    SequenceCaution:
    • Sequence=AAI27724.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAI50555.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for UBE2QL1 Gene

Proteomics data for UBE2QL1 Gene at MOPED

Post-translational modifications for UBE2QL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UBE2QL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UBE2QL1 Gene

Domains & Families for UBE2QL1 Gene

Protein Domains for UBE2QL1 Gene

Suggested Antigen Peptide Sequences for UBE2QL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A1L167

UniProtKB/Swiss-Prot:

U2QL1_HUMAN :
  • Belongs to the ubiquitin-conjugating enzyme family.
Family:
  • Belongs to the ubiquitin-conjugating enzyme family.
genes like me logo Genes that share domains with UBE2QL1: view

No data available for Gene Families for UBE2QL1 Gene

Function for UBE2QL1 Gene

Molecular function for UBE2QL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine.
UniProtKB/Swiss-Prot Function:
Probable E2 ubiquitin-protein ligase that catalyzes the covalent attachment of ubiquitin to target proteins. May facilitate the monoubiquitination and degradation of MTOR and CCNE1 through interaction with FBXW7.

Enzyme Numbers (IUBMB) for UBE2QL1 Gene

Gene Ontology (GO) - Molecular Function for UBE2QL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24000165
genes like me logo Genes that share ontologies with UBE2QL1: view
genes like me logo Genes that share phenotypes with UBE2QL1: view

Animal Model Products

CRISPR Products

miRNA for UBE2QL1 Gene

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UBE2QL1 Gene

Localization for UBE2QL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBE2QL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBE2QL1 Gene COMPARTMENTS Subcellular localization image for UBE2QL1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 2
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for UBE2QL1 Gene

Pathways & Interactions for UBE2QL1 Gene

genes like me logo Genes that share pathways with UBE2QL1: view

Pathways by source for UBE2QL1 Gene

1 BioSystems pathway for UBE2QL1 Gene
1 KEGG pathway for UBE2QL1 Gene

UniProtKB/Swiss-Prot A1L167-U2QL1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Interacting Proteins for UBE2QL1 Gene

Gene Ontology (GO) - Biological Process for UBE2QL1 Gene

None

No data available for SIGNOR curated interactions for UBE2QL1 Gene

Drugs & Compounds for UBE2QL1 Gene

(3) Drugs for UBE2QL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with UBE2QL1: view

Transcripts for UBE2QL1 Gene

mRNA/cDNA for UBE2QL1 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(66) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for UBE2QL1 Gene

Ubiquitin-conjugating enzyme E2Q family-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UBE2QL1 Gene

No ASD Table

Relevant External Links for UBE2QL1 Gene

GeneLoc Exon Structure for
UBE2QL1
ECgene alternative splicing isoforms for
UBE2QL1

Expression for UBE2QL1 Gene

mRNA expression in normal human tissues for UBE2QL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UBE2QL1 Gene

This gene is overexpressed in Muscle - Skeletal (x6.5), Brain - Cortex (x6.3), Brain - Frontal Cortex (BA9) (x5.7), Brain - Cerebellar Hemisphere (x4.5), Brain - Anterior cingulate cortex (BA24) (x4.4), and Brain - Cerebellum (x4.2).

SOURCE GeneReport for Unigene cluster for UBE2QL1 Gene Hs.126856

genes like me logo Genes that share expression patterns with UBE2QL1: view

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for UBE2QL1 Gene

Orthologs for UBE2QL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for UBE2QL1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia UBE2QL1 35
  • 96.07 (n)
  • 98.76 (a)
UBE2QL1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ube2ql1 35
  • 94.82 (n)
  • 98.76 (a)
Ube2ql1 16
Ube2ql1 36
  • 52 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBE2QL1 35
  • 99.79 (n)
  • 99.38 (a)
UBE2QL1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ube2ql1 35
  • 94.2 (n)
  • 98.76 (a)
oppossum
(Monodelphis domestica)
Mammalia UBE2QL1 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBE2QL1 36
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBE2QL1 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486993 35
  • 82.19 (n)
  • 95.03 (a)
Str.15671 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7415 35
zebrafish
(Danio rerio)
Actinopterygii wu:fj55b04 35
  • 83.85 (n)
  • 91.93 (a)
wufj55b04 35
UBE2QL1 36
  • 53 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3661 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008575 35
  • 65.62 (n)
  • 64.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4502 35
  • 66.87 (n)
  • 66.87 (a)
CG4502 36
  • 34 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3810 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
OneToOne
Species with no ortholog for UBE2QL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for UBE2QL1 Gene

ENSEMBL:
Gene Tree for UBE2QL1 (if available)
TreeFam:
Gene Tree for UBE2QL1 (if available)

Paralogs for UBE2QL1 Gene

Paralogs for UBE2QL1 Gene

(3) SIMAP similar genes for UBE2QL1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with UBE2QL1: view

Variants for UBE2QL1 Gene

Sequence variations from dbSNP and Humsavar for UBE2QL1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs707628 -- 6,443,641(-) TGGGT(C/T)CCTGG intron-variant
rs756167 -- 6,474,310(+) TGGAG(G/T)GGGGC intron-variant
rs824619 -- 6,473,697(+) GAAAA(A/C)CTCAG intron-variant
rs824621 -- 6,474,749(+) GGGCA(A/G)TGAGC intron-variant
rs824622 -- 6,474,912(+) GTGCA(A/G)TTTAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UBE2QL1 Gene

Variant ID Type Subtype PubMed ID
nsv4694 CNV Insertion 18451855

Variation tolerance for UBE2QL1 Gene

Gene Damage Index Score: 0.03; 0.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBE2QL1 Gene

Human Gene Mutation Database (HGMD)
UBE2QL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE2QL1 Gene

Disorders for UBE2QL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UBE2QL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cri-du-chat syndrome
  • 5p deletion syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

U2QL1_HUMAN
  • Note=A chromosomal aberration involving UBE2QL1 has been found in a sporadic case of renal cell carcinoma (RCC). Translocation t(5;19)(p15.3;q12). No gene is disrupted by the chromosome 19 breakpoint. {ECO:0000269 PubMed:24000165}.

Relevant External Links for UBE2QL1

Genetic Association Database (GAD)
UBE2QL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBE2QL1
genes like me logo Genes that share disorders with UBE2QL1: view

No data available for Genatlas for UBE2QL1 Gene

Publications for UBE2QL1 Gene

  1. UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene. (PMID: 24000165) Wake N.C. … Woodward E.R. (Hum. Mutat. 2013) 2 3 4 67
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  4. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 3

Products for UBE2QL1 Gene

Sources for UBE2QL1 Gene

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