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

Summary

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, Apr 2022]
Expression: Biased expression in brain (RPKM 12.4), heart (RPKM 3.3) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p15.31

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (6448859..6496723)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (6379225..6427083)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (6448972..6496836)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S1637E (e-PCR)
- UniSTS:151040

STS-AA017236 (e-PCR)
- UniSTS:3847

RH36019 (e-PCR)
- UniSTS:26437

SHGC-141817 (e-PCR)
- UniSTS:171095

SHGC-146107 (e-PCR)
- UniSTS:175010

SHGC-63489 (e-PCR)
- UniSTS:95401

RH79039 (e-PCR)
- UniSTS:23243

A003B33 (e-PCR)
- UniSTS:52177

D5S1575E (e-PCR)
- UniSTS:42460

SHGC-63488 (e-PCR)
- UniSTS:69343

RH121499 (e-PCR)
- UniSTS:134625

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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

Process	Evidence Code	Pubs
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor 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 plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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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

EC 2.3.2.23

NCBI Reference Sequences (RefSeq)

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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)

NM_001145161.3 → NP_001138633.1 ubiquitin-conjugating enzyme E2Q-like protein 1

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 ...