QTGAL

gene
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Also known as B3GNT8

Summary

QTGAL (queuosine-tRNA galactosyltransferase, HGNC:21727) is a protein-coding gene on chromosome 17q25.3, encoding Queuosine-tRNA galactosyltransferase (Q67FW5). Glycosyltransferase that specifically catalyzes galactosylation of cytoplasmic tRNA(Tyr) modified with queuosine at position 34 (queuosine(34)).

Enables tRNA-queuosine(34) galactosyltransferase activity. Involved in regulation of translation and tRNA modification. Is active in cytoplasm.

Source: NCBI Gene 146712 — RefSeq curated summary.

At a glance

  • GWAS associations: 12
  • Clinical variants (ClinVar): 242 total — 1 pathogenic, 2 likely-pathogenic
  • MANE Select transcript: NM_001009905

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:21727
Approved symbolQTGAL
Namequeuosine-tRNA galactosyltransferase
Location17q25.3
Locus typegene with protein product
StatusApproved
AliasesB3GNT8
Ensembl geneENSG00000175711
Ensembl biotypeprotein_coding
OMIM615337
Entrez146712

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 8 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000320865, ENST00000570947, ENST00000571218, ENST00000571301, ENST00000571394, ENST00000571954, ENST00000572267, ENST00000572977, ENST00000573363, ENST00000573629, ENST00000576599, ENST00000905888, ENST00000905889, ENST00000905890, ENST00000905891, ENST00000905892, ENST00000915988

RefSeq mRNA: 4 — MANE Select: NM_001009905 NM_001009905, NM_001320742, NM_001320743, NM_001421881

CCDS: CCDS32778, CCDS82232

Canonical transcript exons

ENST00000320865 — 13 exons

ExonStartEnd
ENSE000014637718305173783051770
ENSE000034853948295718182957249
ENSE000035120548295669582956769
ENSE000035627248294687982946983
ENSE000035658588304866983048785
ENSE000035941998296565182965746
ENSE000035978138296105782961181
ENSE000036086388295735982957494
ENSE000036212518304847183048570
ENSE000036219838303503583035099
ENSE000036523018301445483014519
ENSE000036667098300511583005210
ENSE000039225628294214982944049

Expression profiles

Bgee: expression breadth ubiquitous, 135 present calls, max score 90.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0312 / max 151.2561, expressed in 1451 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
1690142.22271242
1690111.1822301
1690130.3301145
1690120.178580
1690100.117854

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
bloodUBERON:000017890.45gold quality
granulocyteCL:000009484.72gold quality
right uterine tubeUBERON:000130284.38gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099184.13gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047383.81gold quality
monocyteCL:000057683.52gold quality
thymusUBERON:000237083.40silver quality
leukocyteCL:000073883.17gold quality
bone marrowUBERON:000237182.75gold quality
cortical plateUBERON:000534382.27gold quality
right ovaryUBERON:000211882.02gold quality
skin of legUBERON:000151181.99gold quality
zone of skinUBERON:000001481.66gold quality
skin of abdomenUBERON:000141681.25gold quality
sural nerveUBERON:001548881.21gold quality
left ovaryUBERON:000211981.19gold quality
spleenUBERON:000210680.86gold quality
ovaryUBERON:000099280.70gold quality
right hemisphere of cerebellumUBERON:001489080.70gold quality
left uterine tubeUBERON:000130380.39gold quality
hindlimb stylopod muscleUBERON:000425280.33gold quality
cerebellumUBERON:000203780.20gold quality
cerebellar hemisphereUBERON:000224580.20gold quality
cerebellar cortexUBERON:000212980.18gold quality
endocervixUBERON:000045880.15gold quality
ectocervixUBERON:001224979.40gold quality
body of uterusUBERON:000985379.32gold quality
pituitary glandUBERON:000000779.27gold quality
primary visual cortexUBERON:000243679.25gold quality
stromal cell of endometriumCL:000225579.14gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes2.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

58 targeting QTGAL, 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-6867-5P100.0082.213464
HSA-MIR-4455100.0065.481587
HSA-MIR-3163100.0077.238605
HSA-MIR-5193100.0067.261744
HSA-MIR-10401-5P99.9965.79948
HSA-MIR-6721-5P99.9368.922981
HSA-MIR-153-5P99.8973.866317
HSA-MIR-139-5P99.8069.501399
HSA-MIR-471999.7372.103329
HSA-MIR-430699.7270.503630
HSA-MIR-3059-5P99.7069.932491
HSA-MIR-105-5P99.5469.242060
HSA-MIR-7853-5P99.5469.302055
HSA-MIR-143-3P99.4969.051457
HSA-MIR-477099.4969.091451
HSA-MIR-65799.4866.02848
HSA-MIR-516A-3P99.4667.961378
HSA-MIR-516B-3P99.4667.961378
HSA-MIR-7162-5P99.4668.081368
HSA-MIR-513A-3P99.3970.633620
HSA-MIR-513C-3P99.3970.633620
HSA-MIR-6839-3P99.3968.861301
HSA-MIR-431699.3765.751360
HSA-MIR-185-5P99.3568.602497
HSA-MIR-464499.3569.122514
HSA-MIR-608899.2968.451284
HSA-MIR-450599.2767.812678
HSA-MIR-578799.2267.862628
HSA-MIR-3925-5P99.2167.901466
HSA-MIR-3606-3P99.1169.843254

Literature-anchored findings (GeneRIF, showing 1)

  • beta3-GnTL1 is similar to beta1, 3-N-acetylglucosaminyltransferase (PMID:15560372)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriob3gntl1ENSDARG00000043431
mus_musculusB3gntl1ENSMUSG00000046605
rattus_norvegicusB3gntl1ENSRNOG00000049724
caenorhabditis_elegansF13G3.6WBGENE00008766

Protein

Protein identifiers

Queuosine-tRNA galactosyltransferaseQ67FW5 (reviewed: Q67FW5)

Alternative names: Beta-1,3-N-acetylglucosaminyltransferase 8, UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1

All UniProt accessions (4): Q67FW5, I3L1A1, I3L232, I3L4B6

UniProt curated annotations — full annotation on UniProt →

Function. Glycosyltransferase that specifically catalyzes galactosylation of cytoplasmic tRNA(Tyr) modified with queuosine at position 34 (queuosine(34)). Galactosylates the cyclopentene hydroxyl group of queuosine(34) in tRNA(Tyr) to form galactosyl-queuosine(34). Mannosylation of queuosine(34) in tRNA(Tyr) is required to slow-down elongation at cognate codons UAC and suppress stop codon readthrough, thereby regulating protein translation.

Subcellular location. Cytoplasm.

Tissue specificity. Widely expressed. Highly expressed in adult pancreas. Expressed at moderate level in kidney, spleen, thymus, prostate, testis and ovary. Weakly expressed in small intestine, colon, peripheral blood leukocyte and liver.

Similarity. Belongs to the glycosyltransferase 2 family.

RefSeq proteins (4): NP_001009905, NP_001307671, NP_001307672, NP_001408810 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001173Glyco_trans_2-likeDomain
IPR029044Nucleotide-diphossugar_transHomologous_superfamily

Pfam: PF00535

Catalyzed reactions (Rhea), 1 shown:

  • queuosine(34) in tRNA(Tyr) + UDP-alpha-D-galactose = O-5’’-beta-D-galactosylqueuosine(34) in tRNA(Tyr) + UDP + H(+) (RHEA:78231)

UniProt features (2 total): chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q67FW5-F196.050.92

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-913709O-linked glycosylation of mucins

MSigDB gene sets: 230 (showing top): GOBP_TRNA_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_AMINOGLYCAN_BIOSYNTHETIC_PROCESS, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_RNA_MODIFICATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_AMINOGLYCAN_METABOLIC_PROCESS, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, BOYLAN_MULTIPLE_MYELOMA_C_CLUSTER_UP, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_TRNA_PROCESSING, GOBP_TRNA_MODIFICATION, GOBP_REGULATION_OF_TRANSLATION, GOMF_HEXOSYLTRANSFERASE_ACTIVITY

GO Biological Process (3): tRNA wobble guanine modification (GO:0002099), tRNA modification (GO:0006400), regulation of translation (GO:0006417)

GO Molecular Function (4): tRNA-queuosine(34) galactosyltransferase activity (GO:0141125), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), hexosyltransferase activity (GO:0016758)

GO Cellular Component (1): cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
O-linked glycosylation1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
tRNA wobble base modification1
tRNA processing1
RNA modification1
translation1
post-transcriptional regulation of gene expression1
regulation of protein metabolic process1
UDP-galactosyltransferase activity1
catalytic activity, acting on a tRNA1
catalytic activity1
transferase activity1
glycosyltransferase activity1
intracellular anatomical structure1
cellular anatomical structure1

Protein interactions and networks

STRING

324 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
QTGALTBCDQ9BTW9523
QTGALFN3KRPQ9HA64461
QTGALMETRNLQ641Q3455
QTGALFARSAQ9Y285439
QTGALALG3Q92685411
QTGALNOC4LQ9BVI4397
QTGALTRNAU1APQ9NX07383
QTGALDOK6Q6PKX4370
QTGALNKAIN2Q5VXU1360
QTGALFGD5Q6ZNL6344
QTGALEFHBQ8N7U6339
QTGALIPO4Q8TEX9339
QTGALPUS7Q96PZ0339
QTGALTACSTD2P09758327
QTGALCCT4P50991325

IntAct

8 interactions, top by confidence:

ABTypeScore
IMPDH1BCAT2psi-mi:“MI:0914”(association)0.530
IMPDH1LCMT2psi-mi:“MI:0914”(association)0.350
FTLSH3PXD2Bpsi-mi:“MI:0914”(association)0.350
IMPDH1MGST3psi-mi:“MI:0914”(association)0.350
MPP3B3GNTL1psi-mi:“MI:0915”(physical association)0.000

BioGRID (5): B3GNTL1 (Affinity Capture-MS), B3GNTL1 (Affinity Capture-RNA), B3GNTL1 (Affinity Capture-MS), B3GNTL1 (Affinity Capture-MS), B3GNTL1 (Affinity Capture-RNA)

ESM2 similar proteins: A2VE14, A5PLN9, B1WC68, D3Z7P3, O54865, O89050, O94925, P13264, P16068, P20595, P38024, P51583, P97834, Q02153, Q0VCB2, Q0VCJ8, Q13042, Q13098, Q3TIR1, Q4R4U1, Q4ZHR9, Q5F450, Q5M887, Q5NVN7, Q5R5F8, Q5RB35, Q5RB59, Q5RBN9, Q5RKN4, Q5ZJB7, Q5ZMH6, Q67FW5, Q6AXQ0, Q6NRT5, Q86TJ2, Q8R349, Q8VH37, Q91YQ7, Q99LD4, Q99PV3

Diamond homologs: A0A0H2URH7, A0A0H3JPC6, A0A0H3JVA1, A1KMV1, A5U6W5, B5L3F2, D4GYG7, D4GYH2, E0U4V7, H2K893, O06483, O32268, P0A5A0, P26401, P47271, P74165, P75086, P9WMX6, P9WMX7, Q07755, Q077R2, Q0P9C6, Q15JF5, Q46632, Q48214, Q48215, Q4V9J0, Q54J42, Q57022, Q67FW5, Q6GV29, Q7BLV3, Q8L0V4, Q8U4M3, Q9CMP0, Q9DB25, Q9LM93, Q9Y673, A0A0H2UR96, A0A0H3JNB0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic2
Uncertain significance160
Likely benign30
Benign15

Top pathogenic / likely-pathogenic (3)

Variant IDHGVSClassification
3248403NC_000019.9:g.(?41916522)(41932683_?)delPathogenic
148281GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1Likely pathogenic
1707631GRCh37/hg19 17q25.3(chr17:80509676-81162701)x3Likely pathogenic

SpliceAI

4403 predictions. Top by Δscore:

VariantEffectΔscore
17:82957354:CTCA:Cdonor_loss1.0000
17:82957355:TCACC:Tdonor_loss1.0000
17:82957356:CACCT:Cdonor_loss1.0000
17:82957357:A:ACdonor_gain1.0000
17:82957357:AC:Adonor_gain1.0000
17:82957357:ACC:Adonor_loss1.0000
17:82957358:C:CCdonor_gain1.0000
17:82957358:CC:Cdonor_gain1.0000
17:82957358:CCTTG:Cdonor_gain1.0000
17:82957491:CGTC:Cacceptor_gain1.0000
17:82957493:TC:Tacceptor_gain1.0000
17:82957494:CC:Cacceptor_gain1.0000
17:82957495:C:CCacceptor_gain1.0000
17:82957495:CTGCG:Cacceptor_loss1.0000
17:82957496:T:Cacceptor_loss1.0000
17:82957499:G:Tacceptor_gain1.0000
17:82961053:TCACT:Tdonor_loss1.0000
17:82961054:CA:Cdonor_loss1.0000
17:82961055:A:ACdonor_gain1.0000
17:82961056:C:CTdonor_gain1.0000
17:82961056:C:Tdonor_loss1.0000
17:82961056:CT:Cdonor_gain1.0000
17:82961178:CGCC:Cacceptor_gain1.0000
17:82961179:GCCC:Gacceptor_loss1.0000
17:82961180:CC:Cacceptor_gain1.0000
17:82961180:CCCTG:Cacceptor_loss1.0000
17:82961181:CC:Cacceptor_gain1.0000
17:82961181:CCTGC:Cacceptor_loss1.0000
17:82961183:T:Aacceptor_loss1.0000
17:83014448:ACTT:Adonor_loss1.0000

AlphaMissense

2371 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:83035065:G:CS104R0.990
17:83035065:G:TS104R0.990
17:83035067:T:GS104R0.990
17:82965707:A:GW182R0.989
17:82965707:A:TW182R0.989
17:82957421:A:GW267R0.985
17:82957421:A:TW267R0.985
17:83035086:T:AK97N0.984
17:83035086:T:GK97N0.984
17:83035049:A:GC110R0.980
17:82956704:G:CC332W0.976
17:82961168:T:AD205V0.976
17:82961168:T:GD205A0.976
17:83035047:G:CC110W0.976
17:82956711:A:TV330D0.974
17:82961169:C:GD205H0.973
17:83048672:A:CS58R0.973
17:83048672:A:TS58R0.973
17:83048674:T:GS58R0.973
17:83048684:G:CF54L0.973
17:83048684:G:TF54L0.973
17:83048686:A:GF54L0.973
17:82957403:C:AG273W0.971
17:82957423:A:TI266N0.971
17:83005201:A:GC140R0.971
17:83035079:C:GA100P0.971
17:83035044:A:CF111L0.970
17:83035044:A:TF111L0.970
17:83035046:A:GF111L0.970
17:82956705:C:TC332Y0.968

dbSNP variants (sampled 300 via entrez): RS1000033274 (17:82957982 C>T), RS1000051607 (17:83051181 G>A,C), RS1000085324 (17:82957814 G>A), RS1000105996 (17:83043263 C>T), RS1000129675 (17:83028925 C>A), RS1000139124 (17:82977195 C>T), RS1000162917 (17:82943656 G>C), RS1000199880 (17:83046853 A>C), RS1000211501 (17:82999619 A>G), RS1000242674 (17:82999455 C>G,T), RS1000256415 (17:82952440 C>T), RS1000291688 (17:83017227 G>A,C), RS1000319733 (17:83046982 C>A), RS1000368694 (17:82947945 C>T), RS1000394901 (17:82965816 T>C)

Disease associations

OMIM: gene MIM:615337 | disease phenotypes: MIM:248600

GenCC curated gene-disease

Mondo (1): maple syrup urine disease (MONDO:0009563)

Orphanet (2): Non-syndromic anorectal malformation (Orphanet:557), Maple syrup urine disease (Orphanet:511)

HPO phenotypes

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

GWAS associations

12 associations (top):

StudyTraitp-value
GCST006417_9Plasma factor VII activating protease levels5.000000e-07
GCST006585_79Blood protein levels1.000000e-238
GCST008358_1Response to cognitive-behavioural therapy in anxiety and major depressive disorders2.000000e-06
GCST008767_9Perceived intensity of sucrose3.000000e-06
GCST010396_22Gut microbiota (bacterial taxa, hurdle binary method)2.000000e-06
GCST012033_19Sleep (1/3-day periodicity)7.000000e-09
GCST012226_824Waist circumference adjusted for body mass index1.000000e-08
GCST012490_207Femur bone mineral density x serum urate levels interaction2.000000e-09
GCST90002381_545Eosinophil count2.000000e-11
GCST90002388_512Lymphocyte count1.000000e-10
GCST90002399_255Neutrophil percentage of white cells5.000000e-11
GCST90020029_49Waist circumference adjusted for body mass index2.000000e-08

EFO canonical traits (7, from GWAS)

EFO IDTrait name
EFO:0007820cognitive behavioural therapy
EFO:0007874gut microbiome measurement
EFO:0007789BMI-adjusted waist circumference
EFO:0004531urate measurement
EFO:0004842eosinophil count
EFO:0004587lymphocyte count
EFO:0007990neutrophil percentage of leukocytes

MeSH disease descriptors (1)

DescriptorNameTree numbers
D008375Maple Syrup Urine DiseaseC10.228.140.163.100.520; C16.320.565.100.608; C16.320.565.189.520; C18.452.132.100.520; C18.452.648.100.608; C18.452.648.189.520

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Aaffects expression, affects cotreatment, increases methylation, decreases expression, increases expression4
Benzo(a)pyrenedecreases expression, increases methylation4
Tobacco Smoke Pollutiondecreases expression2
Aflatoxin B1decreases expression, increases methylation2
triphenyl phosphateaffects expression1
benzo(e)pyrenedecreases methylation1
potassium chromate(VI)affects cotreatment, decreases expression1
aflatoxin B2decreases methylation1
epigallocatechin gallateaffects cotreatment, decreases expression1
di-n-butylphosphoric acidaffects expression1
perfluorooctane sulfonic acidincreases expression1
ICG 001decreases expression1
bisphenol Sdecreases methylation, affects cotreatment1
jinfukangaffects cotreatment, increases expression1
(+)-JQ1 compoundincreases expression1
Temozolomidedecreases expression1
Fulvestrantaffects cotreatment, increases methylation, decreases methylation1
Air Pollutantsaffects expression, increases abundance1
Arsenicaffects methylation1
Cisplatinaffects cotreatment, increases expression1
Methapyrilenedecreases methylation1
Ozoneaffects expression, increases abundance1
Quercetindecreases expression1
Smokedecreases expression1
Tetrachlorodibenzodioxinaffects expression1
Thiramdecreases expression1
Valproic Acidincreases methylation1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression1
Antirheumatic Agentsdecreases expression1
Cadmium Chloridedecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT01529060PHASE2/PHASE3COMPLETEDPhenylbutyrate Therapy for Maple Syrup Urine Disease
NCT03655223Not specifiedENROLLING_BY_INVITATIONEarly Check: Expanded Screening in Newborns
NCT04248062Not specifiedCOMPLETEDPatient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
NCT04602325Not specifiedRECRUITINGSystemic Biomarkers of Brain Injury From Hyperammonemia
NCT04828863Not specifiedCOMPLETEDNeurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease (MSUD)
NCT05051657Not specifiedCOMPLETEDEvaluation of the Express Plus Range
NCT05687474Not specifiedCOMPLETEDBaby Detect : Genomic Newborn Screening
NCT05910151Not specifiedUNKNOWNSelective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
NCT06298292Not specifiedNOT_YET_RECRUITINGAcceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies
NCT06581991Not specifiedNOT_YET_RECRUITINGLiquid Valine and Isoleucine in Maple Syrup Urine Disease
NCT06664840Not specifiedNOT_YET_RECRUITINGMyRareDiet A Novel Diet Tracking Tool
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): maple syrup urine disease