POGLUT3

gene
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Also known as MGC33424

Summary

POGLUT3 (protein O-glucosyltransferase 3, HGNC:28496) is a protein-coding gene on chromosome 11q22.3, encoding Protein O-glucosyltransferase 3 (Q7Z4H8). Protein glucosyltransferase that catalyzes the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C.

Enables UDP-glucosyltransferase activity and UDP-xylosyltransferase activity. Involved in protein O-linked glycosylation via serine. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in endomembrane system.

Source: NCBI Gene 143888 — RefSeq curated summary.

At a glance

  • GWAS associations: 17
  • Clinical variants (ClinVar): 77 total
  • MANE Select transcript: NM_153705

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:28496
Approved symbolPOGLUT3
Nameprotein O-glucosyltransferase 3
Location11q22.3
Locus typegene with protein product
StatusApproved
AliasesMGC33424
Ensembl geneENSG00000178202
Ensembl biotypeprotein_coding
OMIM618503
Entrez143888

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000323468, ENST00000434945, ENST00000524787, ENST00000530318, ENST00000530529, ENST00000532730, ENST00000706523, ENST00000706524, ENST00000706525

RefSeq mRNA: 3 — MANE Select: NM_153705 NM_001363502, NM_001363503, NM_153705

CCDS: CCDS41711

Canonical transcript exons

ENST00000323468 — 8 exons

ExonStartEnd
ENSE00001291189108482006108482222
ENSE00001294164108498165108498384
ENSE00001305657108479301108479495
ENSE00001322032108481180108481376
ENSE00001329287108490970108491167
ENSE00002151080108472116108474952
ENSE00003493170108486157108486440
ENSE00003647984108477607108477711

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 95.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.9988 / max 136.0063, expressed in 1723 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
12215010.12231674
1221521.98701078
1221511.3411863
1221530.5343337
1221480.014010

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
calcaneal tendonUBERON:000370195.20gold quality
placentaUBERON:000198794.56gold quality
tendonUBERON:000004393.67gold quality
smooth muscle tissueUBERON:000113593.56gold quality
stromal cell of endometriumCL:000225593.22gold quality
tendon of biceps brachiiUBERON:000818893.10gold quality
layer of synovial tissueUBERON:000761692.84gold quality
cardiac muscle of right atriumUBERON:000337992.82gold quality
descending thoracic aortaUBERON:000234591.77gold quality
upper arm skinUBERON:000426391.66silver quality
thoracic aortaUBERON:000151591.60gold quality
ascending aortaUBERON:000149691.50gold quality
right coronary arteryUBERON:000162590.94gold quality
gall bladderUBERON:000211090.21gold quality
left uterine tubeUBERON:000130390.11gold quality
endocervixUBERON:000045890.05gold quality
synovial jointUBERON:000221790.05gold quality
superficial temporal arteryUBERON:000161489.96gold quality
corpus epididymisUBERON:000435989.89gold quality
cauda epididymisUBERON:000436089.89gold quality
aortaUBERON:000094789.84gold quality
body of uterusUBERON:000985389.84gold quality
ventricular zoneUBERON:000305389.83gold quality
urethraUBERON:000005789.82gold quality
uterine cervixUBERON:000000289.60gold quality
colonic epitheliumUBERON:000039789.26gold quality
uterusUBERON:000099589.17gold quality
endometriumUBERON:000129589.16gold quality
myometriumUBERON:000129688.73gold quality
left coronary arteryUBERON:000162688.67gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes11.74
E-CURD-88no597.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

119 targeting POGLUT3, 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-5011-5P100.0083.465820
HSA-MIR-3163100.0077.238605
HSA-MIR-574-5P100.0066.01989
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-656-3P100.0072.152788
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-3646100.0073.565283
HSA-MIR-340-5P100.0072.504437
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-607799.9968.042299
HSA-MIR-428299.9975.366408
HSA-MIR-548P99.9872.253784
HSA-MIR-314899.9775.066478
HSA-MIR-50799.9770.111915
HSA-MIR-3688-3P99.9772.022834
HSA-MIR-60799.9773.625593
HSA-MIR-55799.9670.011640
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-4778-3P99.9370.401818
HSA-MIR-381-3P99.9371.872854
HSA-MIR-6835-3P99.9370.492904
HSA-MIR-450B-5P99.9271.483175

Literature-anchored findings (GeneRIF, showing 1)

  • POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1. (PMID:34411563)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriopoglut3ENSDARG00000021408
mus_musculusPoglut3ENSMUSG00000034487
rattus_norvegicusPoglut3ENSRNOG00000007177

Paralogs (2): POGLUT2 (ENSG00000134901), POGLUT1 (ENSG00000163389)

Protein

Protein identifiers

Protein O-glucosyltransferase 3Q7Z4H8 (reviewed: Q7Z4H8)

Alternative names: KDEL motif-containing protein 2, Protein O-xylosyltransferase POGLUT3

All UniProt accessions (4): Q7Z4H8, A0A9L9PX09, A0A9L9PY40, H0YEM3

UniProt curated annotations — full annotation on UniProt →

Function. Protein glucosyltransferase that catalyzes the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C. Can also catalyze the transfer of xylose from UDP-xylose but less efficiently. Specifically targets extracellular EGF repeats of proteins such as NOTCH1, NOTCH3, FBN1, FBN2 and LTBP1. May regulate the transport of NOTCH1 and NOTCH3 to the plasma membrane and thereby the Notch signaling pathway.

Subcellular location. Endoplasmic reticulum lumen.

Pathway. Protein modification; protein glycosylation.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the KDELC family.

Isoforms (3)

UniProt IDNamesCanonical?
Q7Z4H8-11yes
Q7Z4H8-22
Q7Z4H8-33

RefSeq proteins (3): NP_001350431, NP_001350432, NP_714916* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001298Filamin/ABP280_rptRepeat
IPR006598CAP10Domain
IPR013783Ig-like_foldHomologous_superfamily
IPR014756Ig_E-setHomologous_superfamily
IPR017868Filamin/ABP280_rpt-likeRepeat
IPR051091O-Glucosyltr/Glycosyltrsf_90Family

Pfam: PF00630, PF05686

Catalyzed reactions (Rhea), 2 shown:

  • L-seryl-[EGF-like domain protein] + UDP-alpha-D-glucose = 3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP + H(+) (RHEA:58116)
  • L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[EGF-like domain protein] + UDP + H(+) (RHEA:62016)

UniProt features (18 total): sequence conflict 7, splice variant 4, glycosylation site 2, signal peptide 1, chain 1, sequence variant 1, repeat 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q7Z4H8-F193.160.88

Functional residue map

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

Glycosylation sites (2): 61, 306

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 138 (showing top): WHITEHURST_PACLITAXEL_SENSITIVITY, chr11q22, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, FREDERICK_PRKCI_TARGETS, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, DOUGLAS_BMI1_TARGETS_UP, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, SENESE_HDAC3_TARGETS_DN, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, GOMF_HEXOSYLTRANSFERASE_ACTIVITY

GO Biological Process (3): protein O-linked glycosylation via glucose (GO:0180059), obsolete protein glycosylation (GO:0006486), obsolete protein O-linked glycosylation via serine (GO:0018242)

GO Molecular Function (8): UDP-glucosyltransferase activity (GO:0035251), UDP-xylosyltransferase activity (GO:0035252), glucosyltransferase activity (GO:0046527), EGF-domain serine glucosyltransferase activity (GO:0140561), EGF-domain serine xylosyltransferase activity (GO:0140562), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (3): endoplasmic reticulum lumen (GO:0005788), endomembrane system (GO:0012505), endoplasmic reticulum (GO:0005783)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
UDP-glycosyltransferase activity2
protein O-linked glycosylation1
glucosyltransferase activity1
xylosyltransferase activity1
hexosyltransferase activity1
UDP-glucosyltransferase activity1
UDP-xylosyltransferase activity1
binding1
catalytic activity1
transferase activity1
endoplasmic reticulum1
intracellular organelle lumen1
vacuole1
plasma membrane1
cellular anatomical structure1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

560 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
POGLUT3POFUT1Q9H488625
POGLUT3C11orf65Q8NCR3615
POGLUT3GXYLT1Q4G148575
POGLUT3NPATQ14207573
POGLUT3ELMOD1Q8N336554
POGLUT3EOGTQ5NDL2515
POGLUT3EXPH5Q8NEV8487
POGLUT3GXYLT2A0PJZ3479
POGLUT3XXYLT1Q8NBI6475
POGLUT3SLC35F2Q8IXU6446
POGLUT3POGLUT2Q6UW63394
POGLUT3TMEM40Q8WWA1366
POGLUT3NOTCH3Q9UM47343
POGLUT3CUL5Q93034343
POGLUT3TMEM243Q9BU79343

IntAct

42 interactions, top by confidence:

ABTypeScore
FBXO6MAN2B1psi-mi:“MI:0914”(association)0.640
CRIPTOAIPpsi-mi:“MI:0914”(association)0.640
PLOD2psi-mi:“MI:0914”(association)0.530
FBXO2TMEM131Lpsi-mi:“MI:0914”(association)0.530
BMP1TLL1psi-mi:“MI:0914”(association)0.530
TMEM106AB4GALT3psi-mi:“MI:0914”(association)0.530
POGLUT3TUFMpsi-mi:“MI:0915”(physical association)0.400
POGLUT3HSPA5psi-mi:“MI:0915”(physical association)0.400
POGLUT3CFTRpsi-mi:“MI:0915”(physical association)0.370
CFTRPOGLUT3psi-mi:“MI:0915”(physical association)0.370
Mpsi-mi:“MI:0914”(association)0.350
CANXHLA-Apsi-mi:“MI:0914”(association)0.350
PDGFRAGXYLT2psi-mi:“MI:0914”(association)0.350
LLCFC1POTEFpsi-mi:“MI:0914”(association)0.350
SCGB2A2RTL8Cpsi-mi:“MI:0914”(association)0.350
C1QTNF7AGRNpsi-mi:“MI:0914”(association)0.350
NAAAHAX1psi-mi:“MI:0914”(association)0.350
MFAP4QSOX1psi-mi:“MI:0914”(association)0.350
PRG2QSOX1psi-mi:“MI:0914”(association)0.350
CBLN4AGRNpsi-mi:“MI:0914”(association)0.350
LILRA5HGSpsi-mi:“MI:0914”(association)0.350
ST8SIA5CLGNpsi-mi:“MI:0914”(association)0.350
TMEM25CRLF1psi-mi:“MI:0914”(association)0.350
ENPP7PDIA4psi-mi:“MI:0914”(association)0.350
SP6GPX1psi-mi:“MI:0914”(association)0.350
PRSS50TUBBpsi-mi:“MI:0914”(association)0.350

BioGRID (90): KDELC2 (Affinity Capture-MS), KDELC2 (Affinity Capture-MS), KDELC2 (Proximity Label-MS), VWA1 (Affinity Capture-MS), KDELC2 (Affinity Capture-MS), KDELC2 (Co-fractionation), KDELC2 (Co-fractionation), KDELC2 (Co-fractionation), KDELC2 (Co-fractionation), GRHPR (Co-fractionation), KDELC2 (Co-fractionation), KDELC2 (Co-fractionation), KDELC2 (Co-fractionation), KDELC2 (Co-fractionation), KDELC2 (Co-fractionation)

ESM2 similar proteins: A4IID1, A5D7I4, A5PK45, A9X1C8, G5E897, O12971, O60568, O77783, O95803, P52848, P52849, P52850, P70428, P97464, Q02353, Q16394, Q3UHN9, Q5F407, Q5IGR6, Q5IGR7, Q5IGR8, Q5M854, Q5R6K5, Q5RBC3, Q5U367, Q5U4X8, Q6EV56, Q6GMK0, Q6GQI7, Q6GQK9, Q6IS24, Q6UW63, Q6ZQ11, Q7TT15, Q7Z4H8, Q812F8, Q86X52, Q8K297, Q8NBJ5, Q8VHI3

Diamond homologs: A0NDG6, B0X1Q4, G3V9D0, G5E897, Q16QY8, Q29AU6, Q566E5, Q5E9Q1, Q6UW63, Q7Z4H8, Q7ZVE6, Q8BYB9, Q8NBL1, Q8T045, Q9JHP7, Q5K8R6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 56 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.

GO biological processes:

GO termPartnersFoldFDR
ERAD pathway621.7×1e-04

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 significance66
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1151 predictions. Top by Δscore:

VariantEffectΔscore
11:108474959:C:CTacceptor_gain1.0000
11:108474960:G:Cacceptor_gain1.0000
11:108477603:TGAC:Tdonor_loss1.0000
11:108477604:GACC:Gdonor_loss1.0000
11:108477605:A:ATdonor_loss1.0000
11:108477606:C:Adonor_loss1.0000
11:108477633:AAAG:Adonor_gain1.0000
11:108477707:TTTTC:Tacceptor_gain1.0000
11:108477708:TTTC:Tacceptor_gain1.0000
11:108477710:TC:Tacceptor_gain1.0000
11:108477711:CC:Cacceptor_gain1.0000
11:108477713:T:Gacceptor_loss1.0000
11:108477719:G:Cacceptor_gain1.0000
11:108477720:T:Cacceptor_gain1.0000
11:108477720:T:TCacceptor_gain1.0000
11:108479363:T:TAdonor_gain1.0000
11:108479492:TGTA:Tacceptor_gain1.0000
11:108479496:C:CCacceptor_gain1.0000
11:108479503:A:ACacceptor_gain1.0000
11:108479503:A:Cacceptor_gain1.0000
11:108481175:CATA:Cdonor_loss1.0000
11:108481176:ATAC:Adonor_loss1.0000
11:108481177:TAC:Tdonor_loss1.0000
11:108481178:A:Cdonor_loss1.0000
11:108481179:C:CAdonor_loss1.0000
11:108481261:T:TAdonor_gain1.0000
11:108481377:C:CAacceptor_loss1.0000
11:108481378:T:Aacceptor_loss1.0000
11:108482014:C:Adonor_gain1.0000
11:108486299:T:TAdonor_gain1.0000

AlphaMissense

3305 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
11:108486199:G:CF214L0.995
11:108486199:G:TF214L0.995
11:108486201:A:GF214L0.995
11:108479461:G:TA378D0.993
11:108481324:G:CS318R0.993
11:108481324:G:TS318R0.993
11:108481326:T:GS318R0.993
11:108481339:G:CF313L0.993
11:108481339:G:TF313L0.993
11:108481341:A:GF313L0.993
11:108481358:T:AK307I0.992
11:108486190:G:CF217L0.992
11:108486190:G:TF217L0.992
11:108486192:A:GF217L0.992
11:108481329:C:GD317H0.991
11:108481357:T:AK307N0.991
11:108481357:T:GK307N0.991
11:108482123:A:GW262R0.991
11:108482123:A:TW262R0.991
11:108481312:C:AR322S0.988
11:108481312:C:GR322S0.988
11:108482181:A:CD242E0.988
11:108482181:A:TD242E0.988
11:108482182:T:AD242V0.988
11:108482182:T:CD242G0.988
11:108482182:T:GD242A0.988
11:108479452:C:GR381T0.987
11:108482183:C:GD242H0.987
11:108481313:C:AR322M0.986
11:108479490:C:AK368N0.985

dbSNP variants (sampled 300 via entrez): RS1000007132 (11:108482662 C>T), RS1000282722 (11:108488683 A>C), RS1000353504 (11:108495743 T>C), RS1000386513 (11:108495999 G>A,T), RS1000405849 (11:108496075 T>C), RS1000424642 (11:108488606 A>G), RS1000560731 (11:108474406 C>A,T), RS1000899291 (11:108483886 C>G), RS1000911927 (11:108483942 G>A,T), RS1001011796 (11:108484247 A>G), RS1001047174 (11:108484181 T>C), RS1001164232 (11:108476237 G>A,T), RS1001233073 (11:108495329 C>G), RS1001255677 (11:108488186 A>G), RS1001291686 (11:108488184 C>T)

Disease associations

OMIM: gene MIM:618503 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

17 associations (top):

StudyTraitp-value
GCST004601_159Red blood cell count2.000000e-11
GCST004602_201Mean corpuscular volume2.000000e-17
GCST004710_6Renal cell carcinoma2.000000e-10
GCST005075_1Breast Cancer in BRCA1 mutation carriers2.000000e-06
GCST005075_6Breast Cancer in BRCA1 mutation carriers1.000000e-06
GCST005076_14Breast cancer (estrogen-receptor negative)4.000000e-08
GCST005076_19Breast cancer (estrogen-receptor negative)2.000000e-06
GCST005077_10Breast cancer5.000000e-11
GCST005077_3Breast cancer4.000000e-13
GCST006585_1607Blood protein levels1.000000e-68
GCST007250_11Nonunion in individuals with fractures3.000000e-07
GCST009158_30Uterine fibroids1.000000e-27
GCST010002_248Refractive error4.000000e-19
GCST011378_4Brain-derived neurotrophic factor levels2.000000e-10
GCST90002390_41Mean corpuscular hemoglobin1.000000e-40
GCST90002396_502Mean reticulocyte volume2.000000e-21
GCST90002400_473Plateletcrit2.000000e-33

EFO canonical traits (6, from GWAS)

EFO IDTrait name
EFO:0004305erythrocyte count
EFO:0009707fractures, ununited
EFO:0011018brain-derived neurotrophic factor measurement
EFO:0004527mean corpuscular hemoglobin
EFO:0010701mean reticulocyte volume
EFO:0007985platelet crit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Cyclosporinedecreases expression, increases expression3
sodium arsenitedecreases expression, increases expression2
Acetaminophendecreases expression2
Cisplatinaffects cotreatment, decreases expression, increases expression2
Valproic Acidaffects expression, decreases expression2
Aflatoxin B1decreases methylation2
Particulate Matterincreases expression, affects cotreatment, increases abundance2
bisphenol Fincreases expression1
pirinixic acidaffects binding, increases activity, increases expression1
bisphenol Aincreases expression1
cobaltous chloridedecreases expression1
isobutyl alcoholaffects cotreatment, increases abundance, increases expression1
bisphenol Bincreases expression1
abrinedecreases expression1
jinfukangaffects cotreatment, decreases expression1
NSC 689534affects binding, decreases expression1
Sunitinibdecreases expression1
Air Pollutantsincreases abundance, increases expression1
Azathioprinedecreases expression1
Benzo(a)pyreneincreases expression1
Copperdecreases expression, affects binding1
Diurondecreases expression1
Folic Acidaffects cotreatment, decreases expression1
Gasolineaffects cotreatment, increases abundance, increases expression1
Ivermectindecreases expression1
Methotrexateaffects cotreatment, decreases expression1
Naledaffects expression1
Polycyclic Aromatic Hydrocarbonsincreases expression, affects cotreatment, increases abundance1
Quercetindecreases expression1
Smokeincreases abundance, increases expression1

Clinical trials (associated diseases)

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