UAP1 (UDP-N-acetylglucosamine pyrophosphorylase 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 6675
• Gene name: UDP-N-acetylglucosamine pyrophosphorylase 1
• Gene symbol: UAP1
• Synonyms (NCBI Gene): AGX, AGX1, AGX2, SPAG2
• Chromosome: 1
• Chromosome location: 1q23.3

miRNA 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

Gene ontology (GO) 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

Other IDs

• MIM: 602862
• HGNC: 12457
• e!Ensembl: ENSG00000117143

Protein

• UniProt ID: 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

Pathways

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

Associated diseases

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)

Unknown / Other Associations Show/Hide Unknown Diseases (14)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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	33632238	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	39406924	★★☆☆☆ 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	35925860	★★☆☆☆ 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

Associations from Text Mining Show/Hide Text Mining Associations (6)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PGM3 3 shared pathwaysAmino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars, Synthesis of UDP-N-acetyl-glucosamine Related via 3 shared pathways including Amino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars. NAGK 3 shared pathwaysAmino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars, Synthesis of UDP-N-acetyl-glucosamine Related via 3 shared pathways including Amino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars. GNPNAT1 3 shared pathwaysAmino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars, Synthesis of UDP-N-acetyl-glucosamine Related via 3 shared pathways including Amino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars. GALK2 2 shared pathwaysAmino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars Related via 2 shared pathways including Amino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars. AMDHD2 2 shared pathwaysAmino sugar and nucleotide sugar metabolism, Synthesis of UDP-N-acetyl-glucosamine Related via 2 shared pathways including Amino sugar and nucleotide sugar metabolism, Synthesis of UDP-N-acetyl-glucosamine.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PGM3	0	[]	3	["Amino sugar and nucleotide sugar metabolism","Biosynthesis of nucleotide sugars","Synthesis of UDP-N-acetyl-glucosamine"]	0	[]
NAGK	0	[]	3	["Amino sugar and nucleotide sugar metabolism","Biosynthesis of nucleotide sugars","Synthesis of UDP-N-acetyl-glucosamine"]	0	[]
GNPNAT1	0	[]	3	["Amino sugar and nucleotide sugar metabolism","Biosynthesis of nucleotide sugars","Synthesis of UDP-N-acetyl-glucosamine"]	0	[]
GALK2	0	[]	2	["Amino sugar and nucleotide sugar metabolism","Biosynthesis of nucleotide sugars"]	0	[]
AMDHD2	0	[]	2	["Amino sugar and nucleotide sugar metabolism","Synthesis of UDP-N-acetyl-glucosamine"]	0	[]

Diseases Linked via Similar Genes

Immunodeficiency Linked via 1 of 5 related genesPGM3 Insomnia Linked via 1 of 5 related genesPGM3 Schizophrenia Linked via 1 of 5 related genesPGM3 Severe combined immunodeficiency Linked via 1 of 5 related genesPGM3 immunodeficiency 23 Linked via 1 of 5 related genesPGM3

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Immunodeficiency	1	["PGM3"]
Insomnia	1	["PGM3"]
Schizophrenia	1	["PGM3"]
Severe combined immunodeficiency	1	["PGM3"]
immunodeficiency 23	1	["PGM3"]