Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6675
Gene name	UDP-N-acetylglucosamine pyrophosphorylase 1
Gene symbol	UAP1
Synonyms (NCBI Gene)	AGXAGX1AGX2SPAG2
Chromosome	1
Chromosome location	1q23.3

131

Show/Hide all (131)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005200	hsa-miR-30a-5p	pSILAC	18668040
MIRT020940	hsa-miR-155-5p	Proteomics	18668040
MIRT005200	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT1466170	hsa-miR-1204	CLIP-seq
MIRT1466171	hsa-miR-1207-3p	CLIP-seq
MIRT1466172	hsa-miR-128	CLIP-seq
MIRT1466173	hsa-miR-219-1-3p	CLIP-seq
MIRT1466174	hsa-miR-27a	CLIP-seq
MIRT1466175	hsa-miR-27b	CLIP-seq
MIRT1466176	hsa-miR-3148	CLIP-seq
MIRT1466177	hsa-miR-3200-5p	CLIP-seq
MIRT1466178	hsa-miR-337-3p	CLIP-seq
MIRT1466179	hsa-miR-3613-3p	CLIP-seq
MIRT1466180	hsa-miR-3667-5p	CLIP-seq
MIRT1466181	hsa-miR-3688-5p	CLIP-seq
MIRT1466182	hsa-miR-410	CLIP-seq
MIRT1466183	hsa-miR-4259	CLIP-seq
MIRT1466184	hsa-miR-4425	CLIP-seq
MIRT1466185	hsa-miR-4470	CLIP-seq
MIRT1466186	hsa-miR-4722-3p	CLIP-seq
MIRT1466187	hsa-miR-4766-5p	CLIP-seq
MIRT1466188	hsa-miR-4793-5p	CLIP-seq
MIRT1466189	hsa-miR-513a-5p	CLIP-seq
MIRT1466190	hsa-miR-548c-3p	CLIP-seq
MIRT1466191	hsa-miR-571	CLIP-seq
MIRT1466192	hsa-miR-601	CLIP-seq
MIRT1466193	hsa-miR-643	CLIP-seq
MIRT1466194	hsa-miR-653	CLIP-seq
MIRT1466179	hsa-miR-3613-3p	CLIP-seq
MIRT1466192	hsa-miR-601	CLIP-seq
MIRT2140180	hsa-miR-105	CLIP-seq
MIRT2140181	hsa-miR-2115	CLIP-seq
MIRT2140182	hsa-miR-2276	CLIP-seq
MIRT2140183	hsa-miR-3065-5p	CLIP-seq
MIRT2140184	hsa-miR-3145-3p	CLIP-seq
MIRT2140185	hsa-miR-3201	CLIP-seq
MIRT1466179	hsa-miR-3613-3p	CLIP-seq
MIRT2140186	hsa-miR-421	CLIP-seq
MIRT2140187	hsa-miR-4267	CLIP-seq
MIRT2140188	hsa-miR-4791	CLIP-seq
MIRT2140189	hsa-miR-516a-3p	CLIP-seq
MIRT2140190	hsa-miR-556-3p	CLIP-seq
MIRT2140180	hsa-miR-105	CLIP-seq
MIRT2360865	hsa-miR-1193	CLIP-seq
MIRT1466171	hsa-miR-1207-3p	CLIP-seq
MIRT1466172	hsa-miR-128	CLIP-seq
MIRT2360866	hsa-miR-1305	CLIP-seq
MIRT2360867	hsa-miR-1343	CLIP-seq
MIRT2140181	hsa-miR-2115	CLIP-seq
MIRT2140182	hsa-miR-2276	CLIP-seq
MIRT1466174	hsa-miR-27a	CLIP-seq
MIRT1466175	hsa-miR-27b	CLIP-seq
MIRT2360868	hsa-miR-3074-5p	CLIP-seq
MIRT2140184	hsa-miR-3145-3p	CLIP-seq
MIRT1466179	hsa-miR-3613-3p	CLIP-seq
MIRT2360869	hsa-miR-3690	CLIP-seq
MIRT2360870	hsa-miR-3926	CLIP-seq
MIRT2140186	hsa-miR-421	CLIP-seq
MIRT2360871	hsa-miR-4254	CLIP-seq
MIRT2140187	hsa-miR-4267	CLIP-seq
MIRT2360872	hsa-miR-450b-5p	CLIP-seq
MIRT2360873	hsa-miR-4718	CLIP-seq
MIRT2360874	hsa-miR-4747-5p	CLIP-seq
MIRT1466188	hsa-miR-4793-5p	CLIP-seq
MIRT2360875	hsa-miR-495	CLIP-seq
MIRT2360876	hsa-miR-513a-3p	CLIP-seq
MIRT1466189	hsa-miR-513a-5p	CLIP-seq
MIRT2140189	hsa-miR-516a-3p	CLIP-seq
MIRT2360877	hsa-miR-548g	CLIP-seq
MIRT2360878	hsa-miR-548s	CLIP-seq
MIRT1466192	hsa-miR-601	CLIP-seq
MIRT2360879	hsa-miR-635	CLIP-seq
MIRT1466193	hsa-miR-643	CLIP-seq
MIRT1466194	hsa-miR-653	CLIP-seq
MIRT1466172	hsa-miR-128	CLIP-seq
MIRT1466174	hsa-miR-27a	CLIP-seq
MIRT1466175	hsa-miR-27b	CLIP-seq
MIRT1466189	hsa-miR-513a-5p	CLIP-seq
MIRT1466193	hsa-miR-643	CLIP-seq
MIRT2140180	hsa-miR-105	CLIP-seq
MIRT2360865	hsa-miR-1193	CLIP-seq
MIRT1466171	hsa-miR-1207-3p	CLIP-seq
MIRT2360867	hsa-miR-1343	CLIP-seq
MIRT2140181	hsa-miR-2115	CLIP-seq
MIRT2140182	hsa-miR-2276	CLIP-seq
MIRT2360868	hsa-miR-3074-5p	CLIP-seq
MIRT2654426	hsa-miR-3189-3p	CLIP-seq
MIRT1466179	hsa-miR-3613-3p	CLIP-seq
MIRT2360869	hsa-miR-3690	CLIP-seq
MIRT2360870	hsa-miR-3926	CLIP-seq
MIRT2654427	hsa-miR-3978	CLIP-seq
MIRT2360871	hsa-miR-4254	CLIP-seq
MIRT2140187	hsa-miR-4267	CLIP-seq
MIRT2360873	hsa-miR-4718	CLIP-seq
MIRT1466186	hsa-miR-4722-3p	CLIP-seq
MIRT1466188	hsa-miR-4793-5p	CLIP-seq
MIRT2654428	hsa-miR-4795-3p	CLIP-seq
MIRT2360876	hsa-miR-513a-3p	CLIP-seq
MIRT2140189	hsa-miR-516a-3p	CLIP-seq
MIRT2360877	hsa-miR-548g	CLIP-seq
MIRT2360878	hsa-miR-548s	CLIP-seq
MIRT2140190	hsa-miR-556-3p	CLIP-seq
MIRT1466194	hsa-miR-653	CLIP-seq
MIRT2654429	hsa-miR-656	CLIP-seq
MIRT2140180	hsa-miR-105	CLIP-seq
MIRT2360865	hsa-miR-1193	CLIP-seq
MIRT1466171	hsa-miR-1207-3p	CLIP-seq
MIRT2360867	hsa-miR-1343	CLIP-seq
MIRT2140181	hsa-miR-2115	CLIP-seq
MIRT2140182	hsa-miR-2276	CLIP-seq
MIRT2360868	hsa-miR-3074-5p	CLIP-seq
MIRT1466176	hsa-miR-3148	CLIP-seq
MIRT2654426	hsa-miR-3189-3p	CLIP-seq
MIRT1466179	hsa-miR-3613-3p	CLIP-seq
MIRT2360869	hsa-miR-3690	CLIP-seq
MIRT2360870	hsa-miR-3926	CLIP-seq
MIRT2654427	hsa-miR-3978	CLIP-seq
MIRT1466182	hsa-miR-410	CLIP-seq
MIRT2360871	hsa-miR-4254	CLIP-seq
MIRT2140187	hsa-miR-4267	CLIP-seq
MIRT2360873	hsa-miR-4718	CLIP-seq
MIRT1466186	hsa-miR-4722-3p	CLIP-seq
MIRT1466188	hsa-miR-4793-5p	CLIP-seq
MIRT2654428	hsa-miR-4795-3p	CLIP-seq
MIRT2360876	hsa-miR-513a-3p	CLIP-seq
MIRT2140189	hsa-miR-516a-3p	CLIP-seq
MIRT2360877	hsa-miR-548g	CLIP-seq
MIRT2360878	hsa-miR-548s	CLIP-seq
MIRT2140190	hsa-miR-556-3p	CLIP-seq
MIRT1466194	hsa-miR-653	CLIP-seq
MIRT2654429	hsa-miR-656	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0003977	Function	UDP-N-acetylglucosamine diphosphorylase activity	IBA
GO:0003977	Function	UDP-N-acetylglucosamine diphosphorylase activity	IEA
GO:0003977	Function	UDP-N-acetylglucosamine diphosphorylase activity	TAS	9603950
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	8025165
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006048	Process	UDP-N-acetylglucosamine biosynthetic process	IBA
GO:0006048	Process	UDP-N-acetylglucosamine biosynthetic process	IEA
GO:0006048	Process	UDP-N-acetylglucosamine biosynthetic process	TAS	9603950
GO:0016740	Function	Transferase activity	IEA
GO:0016772	Function	Transferase activity, transferring phosphorus-containing groups	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0032481	Process	Positive regulation of type I interferon production	IDA	36603579
GO:0032481	Process	Positive regulation of type I interferon production	IDA	36603579
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0045087	Process	Innate immune response	IEA
GO:0052630	Function	UDP-N-acetylgalactosamine diphosphorylase activity	IEA
GO:0070569	Function	Uridylyltransferase activity	IEA
GO:0140374	Process	Antiviral innate immune response	IDA	36603579
GO:0141090	Function	Protein serine pyrophosphorylase activity	IDA	36603579
GO:0141090	Function	Protein serine pyrophosphorylase activity	IEA

MIM	HGNC	e!Ensembl
602862	12457	ENSG00000117143

Q16222

Protein name

UDP-N-acetylhexosamine pyrophosphorylase (Antigen X) (AGX) (Protein-pyrophosphorylation enzyme) (EC 2.7.4.-) (Sperm-associated antigen 2) (UDP-N-acetylgalactosamine pyrophosphorylase) (EC 2.7.7.83) (UDP-N-acetylglucosamine pyrophosphorylase) (EC 2.7.7.23)

Protein function

Catalyzes the last step in biosynthesis of uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) by converting UTP and glucosamine 1-phosphate (GlcNAc-1-P) to the sugar nucleotide (PubMed:9603950, PubMed:9765219). Also converts UTP and galactosam

PDB

1JV1 , 1JV3 , 1JVD , 1JVG , 6Z2F , 8QH2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01704	UDPGP	45 → 472	UTP--glucose-1-phosphate uridylyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:8025165). Expressed at low level in placenta, muscle and liver (PubMed:8025165). {ECO:0000269|PubMed:8025165}.; TISSUE SPECIFICITY: [Isoform AGX1]: Isoform AGX1 is more abundant in testis than isoform AGX2, whi

Sequence

MNINDLKLTLSKAGQEHLLRFWNELEEAQQVELYAELQAMNFEELNFFFQKAIEGFNQSS
HQKNVDARMEPVPREVLGSATRDQDQLQAWESEGLFQISQNKVAVLLLAGGQGTRLGVAY
PKGMYDVGLPSRKTLFQIQAERILKLQQVAEKYYGNKCIIPWYIMTSGRTMESTKEFFTK
HKYFGLKKENVIFFQQGMLPAMSFDGKIILEEKNKVSMAPDGNGGLYRALAAQNIVEDME
QRGIWSIHVYCVDNILVKVADPRFIGFCIQKGADCGAKVVEKTNPTEPVGVVCRVDGVYQ
VVEYSEISLATAQKRSSDGRLLFNAGNIANHFFTVPFLRDVVNVYEPQLQHHVAQKKIPY
VDTQGQLIKPDKPNGIKMEKFVFDIFQFAKKFVVYEVLREDEFSPLKNADSQNGKDNPTT
ARHALMSLHHCWVLNAGGHFIDENGSRLPAIPRSATNGKSETITADVNHNLKDANDVPIQ
CEISPLISYAGEGLESYVADKEFHAPLIIDENGVHELVKNGI

Sequence length

522

Interactions

View interactions

	KEGG		Reactome
	Amino sugar and nucleotide sugar metabolism Metabolic pathways Biosynthesis of nucleotide sugars		Synthesis of UDP-N-acetyl-glucosamine

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Liver carcinoma	Liver carcinoma	BEFREE	2536346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	2536346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	39394196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36275679	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	37705744	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32650368	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

UAP1 (UDP-N-acetylglucosamine pyrophosphorylase 1)