UEVLD

gene
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Also known as AttpUEV3

Summary

UEVLD (UEV and lactate/malate dehyrogenase domains, HGNC:30866) is a protein-coding gene on chromosome 11p15.1, encoding Ubiquitin-conjugating enzyme E2 variant 3 (Q8IX04). Possible negative regulator of polyubiquitination.

Predicted to enable ubiquitin binding activity. Predicted to be involved in endosome to lysosome transport. Located in extracellular exosome.

Source: NCBI Gene 55293 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 77 total
  • MANE Select transcript: NM_001040697

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:30866
Approved symbolUEVLD
NameUEV and lactate/malate dehyrogenase domains
Location11p15.1
Locus typegene with protein product
StatusApproved
AliasesAttp, UEV3
Ensembl geneENSG00000151116
Ensembl biotypeprotein_coding
OMIM610985
Entrez55293

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 19 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000300038, ENST00000320750, ENST00000379387, ENST00000396196, ENST00000396197, ENST00000490736, ENST00000535340, ENST00000535484, ENST00000539569, ENST00000540666, ENST00000540917, ENST00000541984, ENST00000543987, ENST00000854034, ENST00000854035, ENST00000854036, ENST00000854037, ENST00000854038, ENST00000854039, ENST00000938975, ENST00000966332, ENST00000966333, ENST00000966334, ENST00000966335, ENST00000966336

RefSeq mRNA: 8 — MANE Select: NM_001040697 NM_001040697, NM_001261382, NM_001261383, NM_001261384, NM_001261385, NM_001261386, NM_001297771, NM_018314

CCDS: CCDS41624, CCDS58122, CCDS58123, CCDS58124, CCDS58125, CCDS73266, CCDS7843

Canonical transcript exons

ENST00000396197 — 12 exons

ExonStartEnd
ENSE000022352601852960918532487
ENSE000022476741858861318588734
ENSE000034840291853640618536469
ENSE000034858041854462318544796
ENSE000035392571855822818558330
ENSE000035510511857534718575412
ENSE000035822851856634718566482
ENSE000036314211854688018547050
ENSE000036433771856489218565010
ENSE000036543511857021418570377
ENSE000036684511853433018534453
ENSE000036751381857872418578808

Expression profiles

Bgee: expression breadth ubiquitous, 275 present calls, max score 91.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.9408 / max 66.4794, expressed in 1792 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
1189466.07381731
1189473.79961634
1189481.0674754

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
mucosa of sigmoid colonUBERON:000499391.79gold quality
colonic mucosaUBERON:000031791.78gold quality
bronchial epithelial cellCL:000232891.63gold quality
mucosa of paranasal sinusUBERON:000503091.08gold quality
seminal vesicleUBERON:000099890.75gold quality
heart right ventricleUBERON:000208090.00gold quality
oral cavityUBERON:000016789.27gold quality
calcaneal tendonUBERON:000370188.85gold quality
penisUBERON:000098988.21gold quality
biceps brachiiUBERON:000150787.96gold quality
buccal mucosa cellCL:000233687.77gold quality
mammalian vulvaUBERON:000099787.70gold quality
cauda epididymisUBERON:000436087.70gold quality
adrenal tissueUBERON:001830387.58gold quality
rectumUBERON:000105287.27gold quality
caput epididymisUBERON:000435887.21gold quality
superficial temporal arteryUBERON:000161487.19gold quality
corpus epididymisUBERON:000435987.12gold quality
germinal epithelium of ovaryUBERON:000130486.90gold quality
endometriumUBERON:000129586.68gold quality
skin of hipUBERON:000155486.58gold quality
jejunal mucosaUBERON:000039986.45gold quality
jejunumUBERON:000211586.20gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450285.95gold quality
stromal cell of endometriumCL:000225585.76gold quality
islet of LangerhansUBERON:000000685.67gold quality
palpebral conjunctivaUBERON:000181285.63gold quality
corpus callosumUBERON:000233685.19gold quality
monocyteCL:000057685.14gold quality
endothelial cellCL:000011584.98gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes5.18
E-MTAB-6379no1305.39
E-GEOD-36552no35.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

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

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-453199.9969.703181
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-428299.9975.366408
HSA-MIR-318599.9968.121959
HSA-MIR-548N99.9871.944170
HSA-MIR-477599.9875.006394
HSA-MIR-3688-3P99.9772.022834
HSA-MIR-55999.9572.283609
HSA-MIR-548AB99.9571.313488
HSA-MIR-548A-5P99.9471.273482
HSA-MIR-548AD-5P99.9471.233502
HSA-MIR-548AE-5P99.9471.233502
HSA-MIR-548AK99.9471.243488
HSA-MIR-548AM-5P99.9471.243488
HSA-MIR-548AP-5P99.9471.143489
HSA-MIR-548AQ-5P99.9471.343426
HSA-MIR-548AR-5P99.9471.283515
HSA-MIR-548AS-5P99.9471.223482
HSA-MIR-548AU-5P99.9471.243488
HSA-MIR-548AY-5P99.9471.233502
HSA-MIR-548B-5P99.9471.233502
HSA-MIR-548BB-5P99.9471.273509
HSA-MIR-548C-5P99.9471.243488
HSA-MIR-548D-5P99.9471.233502
HSA-MIR-548H-5P99.9471.243488
HSA-MIR-548I99.9471.253481
HSA-MIR-548J-5P99.9471.143489

Literature-anchored findings (GeneRIF, showing 1)

  • identification, sequencing and analysis of cDNA in various colon carcinoma cell lines as well as normal and tumor samples from colon (PMID:12427560)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriouevldENSDARG00000009266
mus_musculusUevldENSMUSG00000043262
rattus_norvegicusUevldENSRNOG00000013624
drosophila_melanogasterTSG101FBGN0036666
caenorhabditis_elegansWBGENE00015658

Paralogs (1): TSG101 (ENSG00000074319)

Protein

Protein identifiers

Ubiquitin-conjugating enzyme E2 variant 3Q8IX04 (reviewed: Q8IX04)

Alternative names: EV and lactate/malate dehydrogenase domain-containing protein

All UniProt accessions (2): Q8IX04, A8MYV4

UniProt curated annotations — full annotation on UniProt →

Function. Possible negative regulator of polyubiquitination.

Subunit / interactions. Homodimer.

Tissue specificity. Colon, colon carcinoma cell lines, normal cervical epithelium, carcinomas of the uterine cervix and peripheral blood leukocytes.

Similarity. In the N-terminal section; belongs to the ubiquitin-conjugating enzyme family. UEV subfamily. In the C-terminal section; belongs to the LDH/MDH superfamily.

Isoforms (7)

UniProt IDNamesCanonical?
Q8IX04-11yes
Q8IX04-22
Q8IX04-33
Q8IX04-44
Q8IX04-55
Q8IX04-66
Q8IX04-77

RefSeq proteins (8): NP_001035787, NP_001248311, NP_001248312, NP_001248313, NP_001248314, NP_001248315, NP_001284700, NP_060784 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001236Lactate/malate_DH_NDomain
IPR001557L-lactate/malate_DHFamily
IPR008883UEV_NDomain
IPR015955Lactate_DH/Glyco_Ohase_4_CHomologous_superfamily
IPR016135UBQ-conjugating_enzyme/RWDHomologous_superfamily
IPR022383Lactate/malate_DH_CDomain
IPR036291NAD(P)-bd_dom_sfHomologous_superfamily

Pfam: PF00056, PF02866, PF05743

UniProt features (42 total): strand 14, helix 12, splice variant 9, sequence conflict 3, chain 1, domain 1, binding site 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDBMethodResolution (Å)
2I6TX-RAY DIFFRACTION2.1
3DL2X-RAY DIFFRACTION2.1

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8IX04-F187.340.65

Functional residue map

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

Ligand- & substrate-binding residues (1): 191–219

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 137 (showing top): GOBP_LYSOSOMAL_TRANSPORT, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, SENESE_HDAC1_TARGETS_UP, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS, GOCC_ESCRT_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOMF_UBIQUITIN_LIKE_PROTEIN_BINDING, SENESE_HDAC1_AND_HDAC2_TARGETS_UP, GOBP_INTRACELLULAR_TRANSPORT, GOCC_ESCRT_I_COMPLEX, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GOMF_UBIQUITIN_BINDING

GO Biological Process (5): regulation of DNA-templated transcription (GO:0006355), endosome to lysosome transport (GO:0008333), protein transport (GO:0015031), carboxylic acid metabolic process (GO:0019752), protein modification process (GO:0036211)

GO Molecular Function (5): oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616), ubiquitin binding (GO:0043130), catalytic activity (GO:0003824), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (5): ESCRT I complex (GO:0000813), nucleus (GO:0005634), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), vesicle (GO:0031982)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
DNA-templated transcription1
regulation of gene expression1
regulation of RNA biosynthetic process1
lysosomal transport1
intercellular transport1
vesicle-mediated transport1
transport1
intracellular protein localization1
establishment of protein localization1
oxoacid metabolic process1
protein metabolic process1
macromolecule modification1
oxidoreductase activity, acting on CH-OH group of donors1
ubiquitin-like protein binding1
molecular_function1
binding1
catalytic activity1
endosome membrane1
ESCRT complex1
membrane protein complex1
intracellular membrane-bounded organelle1
extracellular vesicle1
intracellular anatomical structure1
cellular anatomical structure1
membrane-bounded organelle1

Protein interactions and networks

STRING

4485 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
UEVLDGGHQ92820898
UEVLDSPTY2D1Q68D10574
UEVLDTBC1D32Q96NH3528
UEVLDUFL1O94874460
UEVLDI3L0A0I3L0A0437
UEVLDTRIP4Q15650429
UEVLDCGASQ8N884421
UEVLDERICH1Q86X53416
UEVLDCDC16Q13042415
UEVLDCHCT1Q86WR6410
UEVLDUBE2V2Q15819405
UEVLDELOBQ15370403
UEVLDTOM1O60784397
UEVLDMAPKAP1Q9BPZ7394
UEVLDCSNK1A1P48729387

IntAct

28 interactions, top by confidence:

ABTypeScore
WDR59EPB41L2psi-mi:“MI:0914”(association)0.530
MORN4UEVLDpsi-mi:“MI:0914”(association)0.500
MORN4UEVLDpsi-mi:“MI:0915”(physical association)0.500
UEVLDSDF2L1psi-mi:“MI:0915”(physical association)0.370
UEVLDGALMpsi-mi:“MI:0915”(physical association)0.370
UEVLDRNF4psi-mi:“MI:0915”(physical association)0.370
RNF114UEVLDpsi-mi:“MI:0915”(physical association)0.370
TRAF6UEVLDpsi-mi:“MI:0915”(physical association)0.370
UEVLDLRSAM1psi-mi:“MI:0915”(physical association)0.370
DTX3UEVLDpsi-mi:“MI:0915”(physical association)0.370
ECE1UEVLDpsi-mi:“MI:0915”(physical association)0.370
NEK4E2F8psi-mi:“MI:0914”(association)0.350
BIRC2UMAD1psi-mi:“MI:0914”(association)0.350
RBCK1UMAD1psi-mi:“MI:0914”(association)0.350
TANKCNOT1psi-mi:“MI:0914”(association)0.350
TNIP1UMAD1psi-mi:“MI:0914”(association)0.350
TNIP2CHUKpsi-mi:“MI:0914”(association)0.350
TRADDHNRNPCL2psi-mi:“MI:0914”(association)0.350
TRAF2TMEM178Bpsi-mi:“MI:0914”(association)0.350
RBCK1KHNYNpsi-mi:“MI:0914”(association)0.350
SHARPINUMAD1psi-mi:“MI:0914”(association)0.350
TNIP2TMEM178Bpsi-mi:“MI:0914”(association)0.350
WDR59HDAC3psi-mi:“MI:0914”(association)0.350
CAPRIN1VPS37Cpsi-mi:“MI:0914”(association)0.350
PRPSAP1TRAFD1psi-mi:“MI:0914”(association)0.350

BioGRID (31): UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Co-fractionation)

ESM2 similar proteins: A0A3L7I2I8, A0A8J1LLF7, A0A974H8H3, A4II46, A6JFQ6, A6JUQ6, B3DLA6, O60733, O70291, P32298, P41034, P42694, P49638, P97570, P97819, Q02384, Q07889, Q07890, Q2KIX2, Q32PW3, Q4R678, Q59H18, Q5F361, Q5FVD6, Q5GIG6, Q5M7E1, Q5RCA6, Q5SPP0, Q5SYC1, Q66H63, Q6DFV5, Q6NRC7, Q6PC62, Q7SXV1, Q7TQP6, Q8AVG0, Q8BG92, Q8BM85, Q8BWP5, Q8BWW9

Diamond homologs: A0A1F3, A5A6N7, O13276, O13277, O13278, O93401, O93537, O93538, O93539, O93540, O93541, O93542, O93543, O93544, O93545, O93546, P00336, P00337, P00338, P00339, P00340, P00341, P00342, P04642, P06151, P07195, P07864, P13490, P13491, P13743, P16125, P19629, P19858, P20373, P22988, P22989, P29038, P33571, P42119, P42120

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 32 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
TNFR1-induced proapoptotic signaling5104.6×4e-08
TNFR1-induced NF-kappa-B signaling pathway696.0×3e-09
Regulation of TNFR1 signaling664.0×2e-08

GO biological processes:

GO termPartnersFoldFDR
canonical NF-kappaB signal transduction8104.7×1e-12
tumor necrosis factor-mediated signaling pathway559.0×1e-06
negative regulation of canonical NF-kappaB signal transduction849.1×4e-10
protein polyubiquitination624.7×5e-06
positive regulation of canonical NF-kappaB signal transduction923.4×8e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance58
Likely benign5
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2502 predictions. Top by Δscore:

VariantEffectΔscore
11:18534454:C:CCacceptor_gain1.0000
11:18544797:C:CCacceptor_gain1.0000
11:18544804:T:TCacceptor_gain1.0000
11:18544808:A:Cacceptor_gain1.0000
11:18547046:CAAAT:Cacceptor_gain1.0000
11:18558225:GA:Gdonor_loss1.0000
11:18558327:TACC:Tacceptor_gain1.0000
11:18558329:CC:Cacceptor_gain1.0000
11:18558330:CC:Cacceptor_gain1.0000
11:18564887:CATA:Cdonor_loss1.0000
11:18564888:ATAC:Adonor_loss1.0000
11:18564889:TACC:Tdonor_loss1.0000
11:18564890:ACCTT:Adonor_loss1.0000
11:18564891:C:Tdonor_loss1.0000
11:18566479:TAGG:Tacceptor_gain1.0000
11:18566483:C:CCacceptor_gain1.0000
11:18568656:C:CTdonor_gain1.0000
11:18568656:CTA:Cdonor_gain1.0000
11:18568657:T:TTdonor_gain1.0000
11:18575345:AC:Adonor_gain1.0000
11:18575346:CC:Cdonor_gain1.0000
11:18575413:C:CCacceptor_gain1.0000
11:18578763:CAT:Cdonor_gain1.0000
11:18578772:T:Adonor_gain1.0000
11:18578807:TA:Tacceptor_gain1.0000
11:18578809:C:CCacceptor_gain1.0000
11:18587205:A:Cdonor_gain1.0000
11:18532485:TCC:Tacceptor_gain0.9900
11:18532486:CCC:Cacceptor_gain0.9900
11:18534325:ATTAC:Adonor_loss0.9900

AlphaMissense

3085 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
11:18532452:A:CS428R0.997
11:18532452:A:TS428R0.997
11:18532454:T:GS428R0.997
11:18570222:A:GW117R0.996
11:18570222:A:TW117R0.996
11:18575385:A:GL52P0.994
11:18570312:A:GC87R0.993
11:18578800:G:CF17L0.992
11:18578800:G:TF17L0.992
11:18578802:A:GF17L0.992
11:18544736:C:TG316E0.991
11:18570220:C:AW117C0.991
11:18570220:C:GW117C0.991
11:18532458:A:CF426L0.990
11:18532458:A:TF426L0.990
11:18532460:A:GF426L0.990
11:18534395:C:GA395P0.990
11:18544762:A:CS307R0.990
11:18544762:A:TS307R0.990
11:18544764:T:GS307R0.990
11:18544730:C:TG318E0.989
11:18564915:A:GC197R0.989
11:18570245:A:TI109K0.988
11:18570317:G:TP85H0.988
11:18570348:A:GW75R0.988
11:18570348:A:TW75R0.988
11:18547029:G:AS246F0.987
11:18570310:G:CC87W0.987
11:18570317:G:CP85R0.986
11:18575382:A:GL53P0.986

dbSNP variants (sampled 300 via entrez): RS1000053602 (11:18555093 C>T), RS1000063755 (11:18556736 C>A,T), RS1000077530 (11:18536083 G>A), RS1000109228 (11:18584373 G>T), RS1000117978 (11:18549784 G>A,T), RS1000167740 (11:18542699 A>G,T), RS1000191815 (11:18550141 A>G), RS1000252344 (11:18587229 C>T), RS1000324186 (11:18543552 C>A), RS1000342571 (11:18586554 T>C), RS1000342935 (11:18543286 AT>A), RS1000412626 (11:18535519 G>T), RS1000440613 (11:18550482 T>C), RS1000466685 (11:18535821 T>G), RS1000498602 (11:18562749 T>C)

Disease associations

OMIM: gene MIM:610985 | 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

23 total (human), top 23 by PubMed support.

ChemicalActions (top 5)PubMed papers
aristolochic acid Iincreases expression1
GSK-J4decreases expression1
dicrotophosdecreases expression1
triphenyl phosphateaffects expression1
beta-lapachoneincreases expression1
sodium arsenitedecreases expression, increases abundance1
aflatoxin B2decreases methylation1
di-n-butylphosphoric acidaffects expression1
CGP 52608affects binding, increases reaction1
pyrimidifendecreases expression1
torcetrapibincreases expression1
Acetaminophendecreases expression1
Air Pollutantsdecreases expression, increases abundance1
Air Pollutants, Occupationaldecreases expression1
Arsenicdecreases expression, increases abundance1
Benzo(a)pyreneincreases methylation1
Ivermectindecreases expression1
Nickeldecreases expression1
Smokedecreases expression1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression1
Aflatoxin B1decreases methylation1
Lactic Aciddecreases expression1
Particulate Matterdecreases expression, increases abundance1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_TW18HAP1 UEVLD (-) 1Cancer cell lineMale
CVCL_TW19HAP1 UEVLD (-) 2Cancer cell lineMale

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.