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Aliases for UAP1 Gene

Aliases for UAP1 Gene

  • UDP-N-Acetylglucosamine Pyrophosphorylase 1 2 3 5
  • UDP-N-Acetylhexosamine Pyrophosphorylase 1 2 3
  • UDP-N-Acetylglucosamine Diphosphorylase 1 2 3
  • Antigen X 3 4
  • SPAG2 3 4
  • AGX 3 4
  • Testis Tissue Sperm-Binding Protein Li 37a 3
  • UDP-N-Acetylhexosamine Pyrophosphorylase 3
  • Sperm Associated Antigen 2 3
  • Sperm-Associated Antigen 2 4
  • EC 56
  • EC 56
  • EC 2.7.7 56
  • AGX1 3
  • AGX2 3

External Ids for UAP1 Gene

Previous HGNC Symbols for UAP1 Gene

  • SPAG2

Previous GeneCards Identifiers for UAP1 Gene

  • GC01P160166
  • GC01P158182
  • GC01P159227
  • GC01P159718
  • GC01P159262
  • GC01P160797
  • GC01P162531
  • GC01P133776

Summaries for UAP1 Gene

GeneCards Summary for UAP1 Gene

UAP1 (UDP-N-Acetylglucosamine Pyrophosphorylase 1) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include identical protein binding and uridylyltransferase activity. An important paralog of this gene is UAP1L1.

UniProtKB/Swiss-Prot for UAP1 Gene

  • Converts UTP and GlcNAc-1-P into UDP-GlcNAc, and UTP and GalNAc-1-P into UDP-GalNAc. Isoform AGX1 has 2 to 3 times higher activity towards GalNAc-1-P, while isoform AGX2 has 8 times more activity towards GlcNAc-1-P.

Gene Wiki entry for UAP1 Gene

Additional gene information for UAP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UAP1 Gene

Genomics for UAP1 Gene

GeneHancer (GH) Regulatory Elements for UAP1 Gene

Promoters and enhancers for UAP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I162560 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 225 3.3 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 GC01M162560 LOC102724358 UAP1 DUSP12 DDR2 UHMK1 OLFML2B ENSG00000272574
GH01I163320 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 9.9 +760.7 760654 3.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 NUF2 ENSG00000232995 RGS5 ENSG00000272574 DDR2 RGS4 UAP1 LOC101928404 LOC100422212
GH01I161764 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.9 -795.4 -795429 2.7 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ZNF610 ATF6 LOC102724329 DUSP12 PPOX USP21 DEDD UAP1 TSTD1 FCRLB SDHC
GH01I162529 Enhancer 0.5 ENCODE 13 -30.8 -30814 1.4 PKNOX1 HMBOX1 CEBPG DPF2 IKZF2 BATF SPI1 UHMK1 UAP1 GC01P162525 UQCRBP2
GH01I162502 Enhancer 0.4 ENCODE 11.6 -58.4 -58422 1.2 JUND SCRT2 FOS UHMK1 UAP1 LOC105371497 GC01P162525
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UAP1 gene promoter:

Genomic Locations for UAP1 Gene

Genomic Locations for UAP1 Gene
38,338 bases
Plus strand

Genomic View for UAP1 Gene

Genes around UAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UAP1 Gene

Proteins for UAP1 Gene

  • Protein details for UAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    UDP-N-acetylhexosamine pyrophosphorylase
    Protein Accession:
    Secondary Accessions:
    • B2R6R8
    • Q5VTA9
    • Q5VTB0
    • Q5VTB1
    • Q96GM2

    Protein attributes for UAP1 Gene

    522 amino acids
    Molecular mass:
    58769 Da
    Quaternary structure:
    • Monomer and homodimer. Isoform AGX1 is a homodimer. Isoform AGX2 is a monomer.

    Three dimensional structures from OCA and Proteopedia for UAP1 Gene

    Alternative splice isoforms for UAP1 Gene


neXtProt entry for UAP1 Gene

Selected DME Specific Peptides for UAP1 Gene


Post-translational modifications for UAP1 Gene

  • Ubiquitination at posLast=1212 and posLast=6363
  • Modification sites at PhosphoSitePlus

Domains & Families for UAP1 Gene

Gene Families for UAP1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for UAP1 Gene

Suggested Antigen Peptide Sequences for UAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the UDPGP type 1 family.
  • Belongs to the UDPGP type 1 family.
genes like me logo Genes that share domains with UAP1: view

Function for UAP1 Gene

Molecular function for UAP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UTP + N-acetyl-alpha-D-galactosamine 1-phosphate = diphosphate + UDP-N-acetyl-alpha-D-galactosamine.
UniProtKB/Swiss-Prot CatalyticActivity:
UTP + N-acetyl-alpha-D-glucosamine 1-phosphate = diphosphate + UDP-N-acetyl-alpha-D-glucosamine.
UniProtKB/Swiss-Prot Function:
Converts UTP and GlcNAc-1-P into UDP-GlcNAc, and UTP and GalNAc-1-P into UDP-GalNAc. Isoform AGX1 has 2 to 3 times higher activity towards GalNAc-1-P, while isoform AGX2 has 8 times more activity towards GlcNAc-1-P.

Enzyme Numbers (IUBMB) for UAP1 Gene

Gene Ontology (GO) - Molecular Function for UAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003977 UDP-N-acetylglucosamine diphosphorylase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
GO:0030246 carbohydrate binding IEA --
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with UAP1: view
genes like me logo Genes that share phenotypes with UAP1: view

miRNA for UAP1 Gene

miRTarBase miRNAs that target UAP1

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UAP1 Gene

Localization for UAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UAP1 Gene

Cytoplasm. Note=In spermatozoa, localized to the principal piece of the tail, the neck region of the head and to a lesser extent, the midpiece of the tail.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UAP1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
peroxisome 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with UAP1: view

Pathways & Interactions for UAP1 Gene

genes like me logo Genes that share pathways with UAP1: view

UniProtKB/Swiss-Prot Q16222-UAP1_HUMAN

  • Pathway: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; UDP-N-acetyl-alpha-D-glucosamine from N-acetyl-alpha-D-glucosamine 1-phosphate: step 1/1.

Gene Ontology (GO) - Biological Process for UAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006047 UDP-N-acetylglucosamine metabolic process IEA --
GO:0006048 UDP-N-acetylglucosamine biosynthetic process TAS,IBA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with UAP1: view

No data available for SIGNOR curated interactions for UAP1 Gene

Drugs & Compounds for UAP1 Gene

(6) Drugs for UAP1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Uridine-Diphosphate-N-Acetylgalactosamine Experimental Pharma Target 0
Uridine-Diphosphate-N-Acetylglucosamine Experimental Pharma Target 0
Uridine triphosphate Experimental, Investigational Pharma 0

(7) Additional Compounds for UAP1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • alpha-D-Glucosamine 1-phosphate
  • alpha-D-Glucosamine 1P
  • alpha-delta-Glucosamine 1-phosphate
  • alpha-delta-Glucosamine 1P
  • Glucosamine-1P
N-acetyl-alpha-D-galactosamine 1-phosphate
N-Acetyl-glucosamine 1-phosphate
  • D-Glucosamine 1-phosphate
  • delta-Glucosamine 1-phosphate
  • N-Acetyl-alpha-D-glucosamine 1-phosphate
  • N-Acetyl-alpha-delta-glucosamine 1-phosphate
  • N-Acetyl-D-glucosamine 1-phosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
genes like me logo Genes that share compounds with UAP1: view

Transcripts for UAP1 Gene

Unigene Clusters for UAP1 Gene

UDP-N-acteylglucosamine pyrophosphorylase 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UAP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c
SP1: - - - - - -
SP2: - -
SP3: - -
SP4: -
SP5: -
SP6: -
SP7: -

Relevant External Links for UAP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for UAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UAP1 Gene

This gene is overexpressed in Nasal epithelium (10.2), Salivary gland (9.6), Oral epithelium (8.3), Skin (7.9), and Bone marrow stromal cell (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UAP1 Gene

Protein tissue co-expression partners for UAP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of UAP1 Gene:


SOURCE GeneReport for Unigene cluster for UAP1 Gene:


mRNA Expression by UniProt/SwissProt for UAP1 Gene:

Tissue specificity: Widely expressed. Isoform AGX1 is more abundant in testis than isoform AGX2, while isoform AGX2 is more abundant than isoform AGX1 in somatic tissue. Expressed at low level in placenta, muscle and liver.

Evidence on tissue expression from TISSUES for UAP1 Gene

  • Liver(4.4)
  • Muscle(4.2)
  • Nervous system(2.4)
  • Stomach(2)
genes like me logo Genes that share expression patterns with UAP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UAP1 Gene

Orthologs for UAP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UAP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia UAP1 33 34
  • 99.67 (n)
(Bos Taurus)
Mammalia UAP1 33 34
  • 93.6 (n)
(Canis familiaris)
Mammalia UAP1 33 34
  • 92.54 (n)
(Mus musculus)
Mammalia Uap1 33 16 34
  • 88.65 (n)
(Monodelphis domestica)
Mammalia UAP1 34
  • 88 (a)
(Rattus norvegicus)
Mammalia Uap1 33
  • 86.93 (n)
(Ornithorhynchus anatinus)
Mammalia UAP1 34
  • 67 (a)
(Gallus gallus)
Aves UAP1 33 34
  • 70.45 (n)
(Anolis carolinensis)
Reptilia UAP1 34
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia uap1 33
  • 69.64 (n)
Str.2734 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.5556 33
(Danio rerio)
Actinopterygii uap1 33 34
  • 70.7 (n)
Dr.3773 33
fruit fly
(Drosophila melanogaster)
Insecta mmy 33 34
  • 56.41 (n)
BcDNA:LD24639 35
  • 51 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007889 33
  • 54.66 (n)
(Caenorhabditis elegans)
Secernentea K06B9.2 35
  • 43 (a)
C36A4.4 35 34
  • 37 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E01673g 33
  • 50.52 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes QRI1 33 34 36
  • 50.18 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL192C 33
  • 49.02 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GlcNA.1UT2 33
  • 52.55 (n)
(Oryza sativa)
Liliopsida Os04g0613700 33
  • 53.12 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02109 33
  • 52.21 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes uap1 33
  • 47.56 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5408 33
Species where no ortholog for UAP1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UAP1 Gene

Gene Tree for UAP1 (if available)
Gene Tree for UAP1 (if available)

Paralogs for UAP1 Gene

Paralogs for UAP1 Gene

(1) SIMAP similar genes for UAP1 Gene using alignment to 1 proteins: Pseudogenes for UAP1 Gene

genes like me logo Genes that share paralogs with UAP1: view

Variants for UAP1 Gene

Sequence variations from dbSNP and Humsavar for UAP1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000157084 -- 162,576,779(+) C/T coding_sequence_variant, missense_variant
rs1000158385 -- 162,567,459(+) T/C intron_variant
rs1000219569 -- 162,576,299(+) TTTTTTTT/TTTTTTTTT intron_variant
rs1000228832 -- 162,562,837(+) A/T intron_variant
rs1000357336 -- 162,569,170(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UAP1 Gene

Variant ID Type Subtype PubMed ID
nsv516482 CNV gain+loss 19592680

Variation tolerance for UAP1 Gene

Residual Variation Intolerance Score: 45.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.93; 59.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UAP1 Gene

Disorders for UAP1 Gene

Additional Disease Information for UAP1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for UAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UAP1 Gene

Publications for UAP1 Gene

  1. The eukaryotic UDP-N-acetylglucosamine pyrophosphorylases. Gene cloning, protein expression, and catalytic mechanism. (PMID: 9603950) Mio T … Yamada-Okabe H (The Journal of biological chemistry 1998) 2 3 4 22 58
  2. Characterization of a human antigen with sera from infertile patients. (PMID: 8025165) Diekman AB … Goldberg E (Biology of reproduction 1994) 2 3 4 22 58
  3. Crystal structures of two human pyrophosphorylase isoforms in complexes with UDPGlc(Gal)NAc: role of the alternatively spliced insert in the enzyme oligomeric assembly and active site architecture. (PMID: 11707391) Peneff C … Bourne Y (The EMBO journal 2001) 3 4 22 58
  4. A 17-amino acid insert changes UDP-N-acetylhexosamine pyrophosphorylase specificity from UDP-GalNAc to UDP-GlcNAc. (PMID: 9765219) Wang-Gillam A … Elbein AD (The Journal of biological chemistry 1998) 3 4 22 58
  5. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 44 58

Products for UAP1 Gene

Sources for UAP1 Gene

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