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UBE2QL1 ubiquitin conjugating enzyme E2 QL1 [ Homo sapiens (human) ]

Gene ID: 134111, updated on 3-May-2025
Official Symbol
UBE2QL1provided by HGNC
Official Full Name
ubiquitin conjugating enzyme E2 QL1provided by HGNC
Primary source
HGNC:HGNC:37269
See related
Ensembl:ENSG00000215218 MIM:615832; AllianceGenome:HGNC:37269
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Enables ubiquitin conjugating enzyme activity. Predicted to be involved in protein polyubiquitination. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, May 2025]
Expression
Biased expression in brain (RPKM 12.4), heart (RPKM 3.3) and 7 other tissues See more
Orthologs
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See UBE2QL1 in Genome Data Viewer
Location:
5p15.31
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (6448859..6496723)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (6379225..6427083)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (6448972..6496836)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22330 Neighboring gene mediator complex subunit 10 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:6408294-6409493 Neighboring gene uncharacterized LOC124900933 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15896 Neighboring gene uncharacterized LOC105374639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22331 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15898 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:6583428-6583589 Neighboring gene long intergenic non-protein coding RNA 1018 Neighboring gene NOP2/Sun RNA methyltransferase 2

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Regulation of lysosome integrity and lysophagy by the ubiquitin-conjugating enzyme UBE2QL1. Kravic B, et al. Autophagy, 2020 Jan. PMID 31679434, Free PMC Article
  2. The ubiquitin-conjugating enzyme UBE2QL1 coordinates lysophagy in response to endolysosomal damage. Koerver L, et al. EMBO Rep, 2019 Oct 4. PMID 31432621, Free PMC Article
  3. UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene. Wake NC, et al. Hum Mutat, 2013 Dec. PMID 24000165, Free PMC Article
  4. Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein-protein interactions in the human cell. Bartolec TK, et al. Proc Natl Acad Sci U S A, 2023 Apr 25. PMID 37071682, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. UBE2QL1 coordinates critical steps in the acute endolysosomal damage response and is essential for maintenance of lysosomal integrity.
    Title: The ubiquitin-conjugating enzyme UBE2QL1 coordinates lysophagy in response to endolysosomal damage.
  2. UBE2QL1 as a novel candidate renal tumor suppressor gene.
    Title: UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene.
Submit: New GeneRIF Correction

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ25076, FLJ39293

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
enables ubiquitin conjugating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin conjugating enzyme activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin conjugating enzyme activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
Preferred Names
ubiquitin-conjugating enzyme E2Q-like protein 1
Names
E2Q-like ubiquitin-conjugating enzyme 1
ubiquitin conjugating enzyme E2 Q family like 1
ubiquitin-conjugating enzyme E2Q family-like 1
NP_001138633.1

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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_001145161.3 → NP_001138633.1  ubiquitin-conjugating enzyme E2Q-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001138633.1

    Status: VALIDATED

    Source sequence(s)
    AC093307, BC127723
    Consensus CDS
    CCDS47189.1
    UniProtKB/Swiss-Prot
    A1L167
    Related
    ENSP00000382713.3, ENST00000399816.4
    Conserved Domains (1) summary
    cl00154
    Location:1 → 115
    UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...

  2. NM_001437365.1 → NP_001424294.1  ubiquitin-conjugating enzyme E2Q-like protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC093307, LJII02000097

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    6448859..6496723
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791776.1 Reference GRCh38.p14 PATCHES

    Range
    152669..200533
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    6379225..6427083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A1L167.2 GenPept UniProtKB/Swiss-Prot:A1L167

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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