UBE2QL1

Summary

UBE2QL1 (ubiquitin conjugating enzyme E2 QL1, HGNC:37269) is a protein-coding gene on chromosome 5p15.31, encoding Ubiquitin-conjugating enzyme E2Q-like protein 1 (A1L167). Probable E2 ubiquitin-protein ligase that catalyzes the covalent attachment of ubiquitin to target proteins.

Enables ubiquitin conjugating enzyme activity. Predicted to be involved in protein polyubiquitination. Located in nucleoplasm and plasma membrane.

Source: NCBI Gene 134111 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 13 total
• MANE Select transcript: NM_001145161

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37269
Approved symbol	UBE2QL1
Name	ubiquitin conjugating enzyme E2 QL1
Location	5p15.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25076
Ensembl gene	ENSG00000215218
Ensembl biotype	protein_coding
OMIM	615832
Entrez	134111

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000399816

RefSeq mRNA: 1 — MANE Select: NM_001145161 NM_001145161

CCDS: CCDS47189

Canonical transcript exons

ENST00000399816 — 2 exons

Exon	Start	End
ENSE00001540282	6491218	6496723
ENSE00001540283	6448859	6449247

Expression profiles

Bgee: expression breadth ubiquitous, 218 present calls, max score 99.54.

FANTOM5 (CAGE): breadth broad, TPM avg 0.5466 / max 33.0188, expressed in 188 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
55629	0.5466	188

Top tissues by expression

246 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.54	gold quality
Brodmann (1909) area 46	UBERON:0006483	99.12	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.86	gold quality
middle temporal gyrus	UBERON:0002771	98.83	gold quality
cerebellar vermis	UBERON:0004720	98.60	gold quality
left ventricle myocardium	UBERON:0006566	98.32	gold quality
pons	UBERON:0000988	98.19	gold quality
parietal lobe	UBERON:0001872	97.72	gold quality
postcentral gyrus	UBERON:0002581	97.62	gold quality
vastus lateralis	UBERON:0001379	97.45	gold quality
quadriceps femoris	UBERON:0001377	97.33	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.13	gold quality
superior frontal gyrus	UBERON:0002661	97.03	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.63	gold quality
entorhinal cortex	UBERON:0002728	96.33	gold quality
substantia nigra pars compacta	UBERON:0001965	96.24	gold quality
superior vestibular nucleus	UBERON:0007227	96.01	gold quality
adult organism	UBERON:0007023	95.76	gold quality
cortical plate	UBERON:0005343	95.74	gold quality
biceps brachii	UBERON:0001507	95.57	gold quality
tibialis anterior	UBERON:0001385	95.50	gold quality
heart right ventricle	UBERON:0002080	95.39	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	95.39	gold quality
occipital lobe	UBERON:0002021	95.32	gold quality
deltoid	UBERON:0001476	94.99	gold quality
primary visual cortex	UBERON:0002436	94.78	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.35	gold quality
myocardium	UBERON:0002349	93.70	gold quality
substantia nigra pars reticulata	UBERON:0001966	93.53	gold quality
skeletal muscle tissue	UBERON:0001134	92.85	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	5.72
E-ANND-3	no	2.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

187 targeting UBE2QL1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-6772-5P	99.94	67.01	577

Literature-anchored findings (GeneRIF, showing 2)

• UBE2QL1 as a novel candidate renal tumor suppressor gene. (PMID:24000165)
• UBE2QL1 coordinates critical steps in the acute endolysosomal damage response and is essential for maintenance of lysosomal integrity. (PMID:31432621)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ube2ql1	ENSDARG00000079276
mus_musculus	Ube2ql1	ENSMUSG00000052981
rattus_norvegicus		ENSRNOG00000071530
drosophila_melanogaster	CG4502	FBGN0031896

Paralogs (12): UBE2D1 (ENSG00000072401), UBE2D4 (ENSG00000078967), UBE2D3 (ENSG00000109332), UBE2D2 (ENSG00000131508), UBE2Q2 (ENSG00000140367), UBE2L6 (ENSG00000156587), UBE2Q1 (ENSG00000160714), UBE2E3 (ENSG00000170035), UBE2E1 (ENSG00000170142), UBE2E2 (ENSG00000182247), UBE2L3 (ENSG00000185651), UBE2L5 (ENSG00000236444)

Protein

Protein identifiers

Ubiquitin-conjugating enzyme E2Q-like protein 1 — A1L167 (reviewed: A1L167)

Alternative names: E2Q-like ubiquitin-conjugating enzyme 1

All UniProt accessions (1): A1L167

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Interacts with FBXW7.

Subcellular location. Nucleus.

Disease relevance. 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.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ubiquitin-conjugating enzyme family.

RefSeq proteins (1): NP_001138633* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000608	UBC	Domain
IPR016135	UBQ-conjugating_enzyme/RWD	Homologous_superfamily

Pfam: PF00179

Enzyme classification (BRENDA):

• EC 2.3.2.23 — E2 ubiquitin-conjugating enzyme (BRENDA: 20 organisms, 93 substrates, 28 inhibitors, 12 Km, 8 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
[UBIQUITIN-CARRIER-PROTEIN UBC2B]-L-CYSTEINE	0.0001	5
[UBE2W]-S-UBIQUITINYL-L-CYSTEINE	0.2203–0.3014	2
S-UBIQUITINYL-[E1 UBIQUITIN-ACTIVATING ENZYME]-L	1	1
[UBIQUITIN CARRIER PROTEIN UBC4]-L-CYSTEINE	0.0019	1

UniProt features (5 total): mutagenesis site 2, chain 1, domain 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A1L167-F1	91.41	0.75

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 88 (glycyl thioester intermediate)

Mutagenesis-validated functional residues (2):

Position	Phenotype
88	unable to bind ubiquitin.
88	enhanced ubiquitin binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 113 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, ZHAN_MULTIPLE_MYELOMA_PR_DN, PEREZ_TP63_TARGETS, GOZGIT_ESR1_TARGETS_DN, BILD_E2F3_ONCOGENIC_SIGNATURE, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, PEREZ_TP53_AND_TP63_TARGETS, KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS, VECCHI_GASTRIC_CANCER_EARLY_DN, VECCHI_GASTRIC_CANCER_ADVANCED_VS_EARLY_UP, GOMF_UBIQUITIN_LIKE_PROTEIN_CONJUGATING_ENZYME_ACTIVITY, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY

GO Biological Process (2): protein polyubiquitination (GO:0000209), protein ubiquitination (GO:0016567)

GO Molecular Function (5): ATP binding (GO:0005524), ubiquitin conjugating enzyme activity (GO:0061631), nucleotide binding (GO:0000166), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein ubiquitination	1
protein modification by small protein conjugation	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein conjugating enzyme activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

858 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBE2QL1	FBXO27	Q8NI29	549
UBE2QL1	TRIM16	O95361	491
UBE2QL1	MARCHF6	O60337	477
UBE2QL1	TMEM130	Q8N3G9	473
UBE2QL1	MED10	Q9BTT4	455
UBE2QL1	YOD1	Q5VVQ6	450
UBE2QL1	FBXW7	Q969H0	447
UBE2QL1	DUSP15	Q9H1R2	428
UBE2QL1	C12orf43	Q96C57	419
UBE2QL1	SKIDA1	Q1XH10	413
UBE2QL1	UBXN6	Q9BZV1	409
UBE2QL1	RASSF3	Q86WH2	406
UBE2QL1	MARCHF4	Q9P2E8	391
UBE2QL1	FOXO6	A8MYZ6	383
UBE2QL1	MYOZ1	Q9NP98	374

IntAct

0 interactions, top by confidence:

BioGRID (24): RPL14 (Cross-Linking-MS (XL-MS)), UBE2QL1 (Cross-Linking-MS (XL-MS)), VCP (Proximity Label-MS), LGALS1 (Proximity Label-MS), TM4SF1 (Proximity Label-MS), KATNAL2 (Proximity Label-MS), PLAA (Proximity Label-MS), SCARB2 (Proximity Label-MS), CLINT1 (Proximity Label-MS), LGALS3 (Proximity Label-MS), FAF1 (Proximity Label-MS), NPLOC4 (Proximity Label-MS), STAM (Proximity Label-MS), NPC1 (Proximity Label-MS), DDI2 (Proximity Label-MS)

ESM2 similar proteins: A0JN27, A0PJN4, A1L167, C1C3R6, O88761, O94973, P17427, P18484, P22234, P38024, P48444, P51583, P97834, Q08211, Q0VCK5, Q13042, Q13098, Q28141, Q28F89, Q2YDL1, Q3MHJ2, Q3TXS7, Q4R9A8, Q4VC33, Q5F398, Q5F418, Q5R532, Q5R5S4, Q5R874, Q5RA77, Q5RB59, Q5RBN9, Q5RDU4, Q5RKJ1, Q6GR10, Q6NRB5, Q6NRT5, Q76EZ2, Q7L5Y9, Q7SXR3

Diamond homologs: A0PJN4, A1L167, P52492, Q32L27, Q5UQ88, Q7TSS2, Q7YQJ9, Q7Z7E8, Q86IZ3, Q8K2Z8, Q8WVN8, Q93571, Q9VM35

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

13 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

436 predictions. Top by Δscore:

Variant	Effect	Δscore
5:6449247:GGTA:G	donor_loss	1.0000
5:6449248:G:GC	donor_loss	1.0000
5:6449243:GCCAG:G	donor_gain	0.9900
5:6449248:G:GG	donor_gain	0.9900
5:6491213:CGCA:C	acceptor_loss	0.9900
5:6491214:GCA:G	acceptor_loss	0.9900
5:6491215:CAG:C	acceptor_loss	0.9900
5:6491216:A:AG	acceptor_gain	0.9900
5:6491216:A:C	acceptor_loss	0.9900
5:6491216:AG:A	acceptor_gain	0.9900
5:6491217:G:A	acceptor_loss	0.9900
5:6491217:G:GG	acceptor_gain	0.9900
5:6491217:GG:G	acceptor_gain	0.9900
5:6468302:G:T	donor_gain	0.9800
5:6491213:C:CA	acceptor_gain	0.9800
5:6491217:GGGAC:G	acceptor_gain	0.9800
5:6491212:AC:A	acceptor_gain	0.9700
5:6491213:C:G	acceptor_gain	0.9600
5:6491216:AGG:A	acceptor_gain	0.9600
5:6491217:GGG:G	acceptor_gain	0.9600
5:6449237:TC:T	donor_gain	0.9500
5:6491212:A:AG	acceptor_gain	0.9500
5:6491208:T:G	acceptor_gain	0.9400
5:6491269:G:GT	donor_gain	0.9400
5:6491207:A:AG	acceptor_gain	0.9000
5:6491217:GGGA:G	acceptor_gain	0.9000
5:6453459:GAC:G	acceptor_gain	0.8900
5:6491297:TG:T	donor_gain	0.8900
5:6453472:T:TG	donor_gain	0.8500
5:6451085:A:AG	acceptor_gain	0.8000

AlphaMissense

1063 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:6448972:T:A	W27R	1.000
5:6448972:T:C	W27R	1.000
5:6448973:G:C	W27S	1.000
5:6448985:T:C	L31P	1.000
5:6449054:T:C	L54P	1.000
5:6449060:T:C	L56P	1.000
5:6449066:T:C	F58S	1.000
5:6449077:T:C	F62L	1.000
5:6449079:C:A	F62L	1.000
5:6449079:C:G	F62L	1.000
5:6449080:C:A	P63T	1.000
5:6449080:C:T	P63S	1.000
5:6449081:C:A	P63H	1.000
5:6449090:C:A	P66Q	1.000
5:6449092:C:A	P67T	1.000
5:6449093:C:A	P67H	1.000
5:6449093:C:G	P67R	1.000
5:6449095:T:C	F68L	1.000
5:6449097:C:A	F68L	1.000
5:6449097:C:G	F68L	1.000
5:6449102:G:C	R70P	1.000
5:6449113:C:T	P74S	1.000
5:6449114:C:A	P74Q	1.000
5:6449128:G:C	G79R	1.000
5:6449129:G:A	G79D	1.000
5:6449129:G:T	G79V	1.000
5:6449135:T:A	V81E	1.000
5:6449138:T:C	L82P	1.000
5:6449146:G:A	G85S	1.000
5:6449146:G:C	G85R	1.000

dbSNP variants (sampled 300 via entrez): RS1000013573 (5:6459287 C>A), RS1000063200 (5:6489277 A>G), RS1000064487 (5:6459021 C>A,T), RS1000111394 (5:6457364 T>G), RS1000200092 (5:6479984 C>T), RS1000205713 (5:6449301 G>A), RS1000206889 (5:6494155 T>A,C), RS1000295984 (5:6453596 C>T), RS1000314361 (5:6479732 A>G), RS1000370659 (5:6462792 C>T), RS1000424746 (5:6485042 A>T), RS1000475106 (5:6468352 G>A), RS1000479333 (5:6451681 A>G), RS1000543865 (5:6468221 C>T), RS1000698563 (5:6480929 T>G)

Disease associations

OMIM: gene MIM:615832 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression, affects expression	5
mercuric bromide	decreases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
methylmercuric chloride	decreases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
benzo(e)pyrene	increases methylation	1
ferrous chloride	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
eprenetapopt	affects expression, affects reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Coumestrol	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	decreases expression	1
Methapyrilene	increases methylation	1
Tetrachlorodibenzodioxin	decreases expression	1
Tretinoin	decreases expression	1
Triclosan	decreases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.