UAP1L1

Summary

UAP1L1 (UDP-N-acetylglucosamine pyrophosphorylase 1 like 1, HGNC:28082) is a protein-coding gene on chromosome 9q34.3, encoding UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 (Q3KQV9).

Predicted to enable UDP-N-acetylglucosamine diphosphorylase activity. Predicted to be involved in UDP-N-acetylglucosamine biosynthetic process.

Source: NCBI Gene 91373 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 80 total
• MANE Select transcript: NM_207309

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28082
Approved symbol	UAP1L1
Name	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000197355
Ensembl biotype	protein_coding
Entrez	91373

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000360271, ENST00000409858, ENST00000474787, ENST00000476184, ENST00000907215, ENST00000907216, ENST00000915582, ENST00000915583, ENST00000971856, ENST00000971857

RefSeq mRNA: 1 — MANE Select: NM_207309 NM_207309

CCDS: CCDS7028

Canonical transcript exons

ENST00000409858 — 9 exons

Exon	Start	End
ENSE00001195040	137080002	137080142
ENSE00001293300	137081998	137082064
ENSE00001332327	137080689	137080874
ENSE00001341513	137079256	137079449
ENSE00001586258	137077517	137077821
ENSE00001592020	137078050	137078254
ENSE00001869374	137082637	137084538
ENSE00003470987	137078976	137079148
ENSE00003588962	137078502	137078677

Expression profiles

Bgee: expression breadth ubiquitous, 185 present calls, max score 87.29.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.2670 / max 194.1457, expressed in 1727 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99643	15.2670	1727

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	87.29	gold quality
apex of heart	UBERON:0002098	85.99	gold quality
spleen	UBERON:0002106	85.40	gold quality
endocervix	UBERON:0000458	85.20	gold quality
right lobe of thyroid gland	UBERON:0001119	84.80	gold quality
left adrenal gland cortex	UBERON:0035825	84.63	gold quality
metanephros cortex	UBERON:0010533	84.55	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	84.53	gold quality
monocyte	CL:0000576	84.48	gold quality
left adrenal gland	UBERON:0001234	84.48	gold quality
right adrenal gland cortex	UBERON:0035827	84.41	gold quality
adenohypophysis	UBERON:0002196	84.29	gold quality
mononuclear cell	CL:0000842	84.17	gold quality
pituitary gland	UBERON:0000007	83.98	gold quality
right adrenal gland	UBERON:0001233	83.80	gold quality
leukocyte	CL:0000738	83.58	gold quality
adrenal cortex	UBERON:0001235	83.08	gold quality
left lobe of thyroid gland	UBERON:0001120	83.05	gold quality
upper lobe of left lung	UBERON:0008952	82.63	gold quality
spinal cord	UBERON:0002240	82.58	gold quality
thyroid gland	UBERON:0002046	82.15	gold quality
minor salivary gland	UBERON:0001830	81.94	gold quality
upper lobe of lung	UBERON:0008948	81.66	gold quality
right atrium auricular region	UBERON:0006631	81.64	gold quality
body of stomach	UBERON:0001161	81.28	gold quality
skin of leg	UBERON:0001511	81.16	gold quality
right frontal lobe	UBERON:0002810	81.10	gold quality
ectocervix	UBERON:0012249	80.64	gold quality
omental fat pad	UBERON:0010414	80.61	gold quality
right lung	UBERON:0002167	80.59	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

67 targeting UAP1L1, 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-6748-5P	100.00	65.81	1057
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-4284	99.36	65.25	1293
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-485-5P	99.10	64.78	1889

Literature-anchored findings (GeneRIF, showing 3)

• UAP1L1 is upregulated in a distinct subset of HCC tissues. Patients with upregulated expression of UAP1L1 have a poor prognosis. UAP1L1 overexpression promoted, and UAP1L1 knockdown reduced the proliferation of human hepatoma cells both in vitro and in vivo. UAP1L1 directly interacts with OGT but is not a substrate and cannot activate it alone.UAP1L1 knockdown attenuated c-MYC O-GlcNAcylation and protein stability. (PMID:30097606)
• Identification of UAP1L1 as tumor promotor in gastric cancer through regulation of CDK6. (PMID:32310823)
• Silencing of UAP1L1 inhibits proliferation and induces apoptosis in esophageal squamous cell carcinoma. (PMID:33434300)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	uap1l1	ENSDARG00000013082
mus_musculus	Uap1l1	ENSMUSG00000026956
rattus_norvegicus	Uap1l1	ENSRNOG00000012960
drosophila_melanogaster	mmy	FBGN0259749
caenorhabditis_elegans		WBGENE00007965

Paralogs (2): UAP1 (ENSG00000117143), UGP2 (ENSG00000169764)

Protein

Protein identifiers

UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 — Q3KQV9 (reviewed: Q3KQV9)

All UniProt accessions (2): A0A087X226, Q3KQV9

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the UDPGP type 1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q3KQV9-1	1	yes
Q3KQV9-2	2

RefSeq proteins (1): NP_997192* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002618	UDPGP_fam	Family
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR039741	UDP-sugar_pyrophosphorylase	Family

Pfam: PF01704

UniProt features (61 total): strand 21, helix 17, binding site 8, turn 7, sequence variant 2, short sequence motif 2, chain 1, region of interest 1, splice variant 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8QH2	X-RAY DIFFRACTION	2.75

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3KQV9-F1	93.60	0.86

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 (8): 256; 380; 410; 111–114; 125; 199; 225; 226

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 112 (showing top): GOZGIT_ESR1_TARGETS_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_AMINO_SUGAR_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_AMINO_SUGAR_METABOLIC_PROCESS, GOBP_UDP_N_ACETYLGLUCOSAMINE_METABOLIC_PROCESS, GOBP_NUCLEOTIDE_SUGAR_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOTIDE_SUGAR_METABOLIC_PROCESS, LEE_LIVER_CANCER_E2F1_UP, STEIN_ESRRA_TARGETS_UP

GO Biological Process (1): UDP-N-acetylglucosamine biosynthetic process (GO:0006048)

GO Molecular Function (5): UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977), transferase activity (GO:0016740), transferase activity, transferring phosphorus-containing groups (GO:0016772), nucleotidyltransferase activity (GO:0016779), uridylyltransferase activity (GO:0070569)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
UDP-N-acetylglucosamine metabolic process	1
nucleotide-sugar biosynthetic process	1
amino sugar biosynthetic process	1
uridylyltransferase activity	1
catalytic activity	1
transferase activity	1
transferase activity, transferring phosphorus-containing groups	1
nucleotidyltransferase activity	1

Protein interactions and networks

STRING

1216 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UAP1L1	PGM3	O95394	625
UAP1L1	GNPNAT1	Q96EK6	624
UAP1L1	UAP1	Q16222	579
UAP1L1	GFPT1	Q06210	494
UAP1L1	SLC35F6	Q8N357	489
UAP1L1	GFPT2	O94808	477
UAP1L1	RENBP	P51606	463
UAP1L1	PITPNB	P48739	458
UAP1L1	ESD	P10768	431
UAP1L1	NAGK	Q9UJ70	431
UAP1L1	GNPDA1	P46926	429
UAP1L1	FBXO6	Q9NRD1	426
UAP1L1	OTUD4	Q01804	422
UAP1L1	GMDS	O60547	420
UAP1L1	PDXK	O00764	418

IntAct

6 interactions, top by confidence:

A	B	Type	Score
	TK2	psi-mi:“MI:0915”(physical association)	0.400
MRPL49	UBA6	psi-mi:“MI:0914”(association)	0.350
TGFBRAP1	CCDC85C	psi-mi:“MI:0914”(association)	0.350
VENTX	UBA6	psi-mi:“MI:0914”(association)	0.350
RSPH1	UAP1L1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (30): AFMID (Co-fractionation), PCBD1 (Co-fractionation), RAB11B (Co-fractionation), SDHB (Co-fractionation), UAP1L1 (Co-fractionation), WDR1 (Co-fractionation), UAP1L1 (Affinity Capture-MS), UAP1L1 (Affinity Capture-MS), UAP1L1 (Negative Genetic), UAP1L1 (Affinity Capture-MS), UAP1L1 (Affinity Capture-MS), UAP1L1 (Affinity Capture-MS), UAP1L1 (Protein-peptide), UAP1L1 (Negative Genetic), UAP1L1 (Affinity Capture-MS)

ESM2 similar proteins: A1A4L8, A2BDX3, A4RPM5, A5GFZ6, A6NK58, B4FAT0, B4NXF7, B6TNK6, O19179, O43323, O95396, O95571, P19971, P55203, P85971, Q02846, Q05922, Q08DH8, Q0VFH3, Q14BV6, Q17CA7, Q1WNP0, Q3KQV9, Q3TW96, Q3UQ84, Q561R2, Q58E95, Q5PQQ1, Q5ZKI2, Q61488, Q66JK4, Q6PAT0, Q7PY41, Q86U10, Q8AWD2, Q8NFV4, Q8VBZ0, Q8VDG5, Q923K4, Q96EY9

Diamond homologs: A2YGP6, O64765, O74933, O94617, P43123, Q09WE7, Q16222, Q18493, Q28CH3, Q2FEW1, Q2FW81, Q2YYH4, Q3KQV9, Q3TW96, Q49ZB5, Q4L846, Q54GN5, Q5HE34, Q5HM59, Q5Z8Y4, Q6G7E3, Q6GEQ8, Q7A0A0, Q7A4A4, Q7ZWD4, Q8CNG6, Q8SQS1, Q91YN5, Q940S3, Q99S95, Q54YZ0, Q5W915, Q9C5I1, P19595, A6VLS5, B0UW09, Q0I1G0, Q59KI0, Q65R54, Q9CK29

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	69
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1647 predictions. Top by Δscore:

Variant	Effect	Δscore
9:137077817:GGAAG:G	donor_gain	1.0000
9:137077818:G:GT	donor_gain	1.0000
9:137077818:GAAG:G	donor_gain	1.0000
9:137077819:A:T	donor_gain	1.0000
9:137077820:AGGTA:A	donor_loss	1.0000
9:137077821:GGTA:G	donor_loss	1.0000
9:137077822:G:GG	donor_gain	1.0000
9:137077822:GTAAG:G	donor_loss	1.0000
9:137077823:T:G	donor_loss	1.0000
9:137078634:C:T	donor_gain	1.0000
9:137078653:A:T	donor_gain	1.0000
9:137078674:CCAG:C	donor_loss	1.0000
9:137078675:CAGG:C	donor_loss	1.0000
9:137078676:AGG:A	donor_loss	1.0000
9:137078677:GG:G	donor_loss	1.0000
9:137078678:G:A	donor_loss	1.0000
9:137078974:A:AG	acceptor_gain	1.0000
9:137078974:AGAC:A	acceptor_gain	1.0000
9:137078975:G:GG	acceptor_gain	1.0000
9:137078975:GAC:G	acceptor_gain	1.0000
9:137078975:GACG:G	acceptor_gain	1.0000
9:137079361:C:G	donor_gain	1.0000
9:137079984:T:TA	acceptor_gain	1.0000
9:137079992:C:A	acceptor_gain	1.0000
9:137080110:G:GT	donor_gain	1.0000
9:137080113:G:GG	donor_gain	1.0000
9:137080686:CAG:C	acceptor_loss	1.0000
9:137080687:A:AG	acceptor_gain	1.0000
9:137080687:AG:A	acceptor_gain	1.0000
9:137080688:G:GG	acceptor_gain	1.0000

AlphaMissense

3263 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:137079072:A:T	D256V	0.999
9:137079072:A:C	D256A	0.998
9:137079076:C:A	N257K	0.998
9:137079076:C:G	N257K	0.998
9:137080726:T:C	F406L	0.998
9:137080728:T:A	F406L	0.998
9:137080728:T:G	F406L	0.998
9:137079071:G:C	D256H	0.997
9:137080114:T:C	F384L	0.996
9:137080116:T:A	F384L	0.996
9:137080116:T:G	F384L	0.996
9:137080120:T:C	F386L	0.996
9:137080122:T:A	F386L	0.996
9:137080122:T:G	F386L	0.996
9:137080740:G:C	K410N	0.996
9:137080740:G:T	K410N	0.996
9:137078135:G:C	K125N	0.995
9:137078135:G:T	K125N	0.995
9:137079073:C:A	D256E	0.995
9:137079073:C:G	D256E	0.995
9:137078136:G:C	G126R	0.994
9:137078515:A:C	S170R	0.994
9:137078517:C:A	S170R	0.994
9:137078517:C:G	S170R	0.994
9:137079072:A:G	D256G	0.994
9:137079067:T:G	C254W	0.993
9:137078983:C:A	N226K	0.992
9:137078983:C:G	N226K	0.992
9:137079331:T:C	Y307H	0.992
9:137080041:G:C	K359N	0.992

dbSNP variants (sampled 300 via entrez): RS1000008940 (9:137079522 G>A), RS1000197047 (9:137084768 C>T), RS1000204173 (9:137082151 G>A), RS1000508761 (9:137079823 G>A), RS1000836025 (9:137079866 G>T), RS1001198016 (9:137082800 C>A,G,T), RS1001478323 (9:137084110 C>T), RS1001615257 (9:137079020 C>G), RS1002128380 (9:137083786 A>T), RS1002418468 (9:137078921 C>T), RS1002718908 (9:137076171 T>C), RS1002866639 (9:137081906 G>A), RS1003097508 (9:137075982 C>T), RS1003121117 (9:137083247 C>G,T), RS1003152108 (9:137082981 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90011899_10	Aspartate aminotransferase levels	1.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation	4
bisphenol A	increases expression	2
Silicon Dioxide	increases expression	2
Cyclosporine	decreases expression, decreases methylation, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
sotorasib	affects cotreatment, decreases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
ethyl-p-hydroxybenzoate	increases expression	1
sodium arsenite	increases expression	1
pentabromodiphenyl ether	increases expression	1
entinostat	increases expression	1
nutlin 3	affects cotreatment, increases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
ormosil	affects binding, increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases response to substance, increases expression	1
jinfukang	affects cotreatment, increases expression	1
trametinib	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects expression, increases abundance	1

Clinical trials (associated diseases)

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