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Aliases for UAP1 Gene

Aliases for UAP1 Gene

  • UDP-N-Acetylglucosamine Pyrophosphorylase 1 2 3
  • SPAG2 3 4 6
  • Sperm-Associated Antigen 2 3 4
  • Antigen X 3 4
  • AGX 3 4
  • UDP-N-Acetylhexosamine Pyrophosphorylase 3
  • Sperm Associated Antigen 2 3
  • EC 2.7.7.23 63
  • EC 2.7.7.27 63
  • EC 2.7.7 63
  • 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
  • GC01P133776

Summaries for UAP1 Gene

GeneCards Summary for UAP1 Gene

UAP1 (UDP-N-Acetylglucosamine Pyrophosphorylase 1) is a Protein Coding gene. Diseases associated with UAP1 include hepadnavirus infection. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include carbohydrate binding and UDP-N-acetylglucosamine diphosphorylase activity. An important paralog of this gene is UAP1L1.

UniProtKB/Swiss-Prot for UAP1 Gene

  • Converts UDP and GlcNAc-1-P into UDP-GlcNAc, and UDP 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

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

Genomics for UAP1 Gene

Regulatory Elements for UAP1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for UAP1 Gene

Start:
162,561,506 bp from pter
End:
162,599,843 bp from pter
Size:
38,338 bases
Orientation:
Plus strand

Genomic View for UAP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q16222-UAP1_HUMAN
    Recommended name:
    UDP-N-acetylhexosamine pyrophosphorylase
    Protein Accession:
    Q16222
    Secondary Accessions:
    • B2R6R8
    • Q5VTA9
    • Q5VTB0
    • Q5VTB1
    • Q96GM2

    Protein attributes for UAP1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for UAP1 Gene

Proteomics data for UAP1 Gene at MOPED

Selected DME Specific Peptides for UAP1 Gene

Post-translational modifications for UAP1 Gene

  • Ubiquitination at Lys12 and Lys63
  • Modification sites at PhosphoSitePlus

Other Protein References for UAP1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for UAP1 Gene

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

Q16222

UniProtKB/Swiss-Prot:

UAP1_HUMAN :
  • Q16222
Family:
  • Belongs to the UDPGP type 1 family.
genes like me logo Genes that share domains with UAP1: view

No data available for Gene Families for UAP1 Gene

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 UDP and GlcNAc-1-P into UDP-GlcNAc, and UDP 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:0030246 carbohydrate binding IEA --
GO:0042802 identical protein binding IPI 25416956
GO:0070569 uridylyltransferase activity --
genes like me logo Genes that share ontologies with UAP1: view

Animal Model Products

miRNA for UAP1 Gene

miRTarBase miRNAs that target UAP1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UAP1

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for UAP1 Gene COMPARTMENTS Subcellular localization image for UAP1 gene
Compartment Confidence
cytosol 4
nucleus 4
plasma membrane 4
peroxisome 2

Gene Ontology (GO) - Cellular Components for UAP1 Gene

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

Pathways 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 --
GO:0006048 UDP-N-acetylglucosamine biosynthetic process TAS --
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0008152 metabolic process --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
genes like me logo Genes that share ontologies with UAP1: view

Compounds for UAP1 Gene

(6) HMDB Compounds for UAP1 Gene

Compound Synonyms Cas Number PubMed IDs
Glucosamine-1P
  • alpha-D-glucosamine 1-phosphate
Not Available
N-Acetyl-glucosamine 1-phosphate
  • D-glucosamine 1-phosphate
901851-43-2
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
528-04-1

(2) Drugbank Compounds for UAP1 Gene

(3) Novoseek inferred chemical compound relationships for UAP1 Gene

Compound -log(P) Hits PubMed IDs
udp-n-acetylglucosamine 89.6 16
glucosamine 6-phosphate 69.1 1
chitin 39.3 1
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UAP1

Primer Products

Flow Cytometry 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: -
SP8:
SP9:

Relevant External Links for UAP1 Gene

GeneLoc Exon Structure for
UAP1
ECgene alternative splicing isoforms for
UAP1

Expression for UAP1 Gene

mRNA expression in normal human tissues for UAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues 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 from ProteomicsDB, PaxDb, MOPED, and MaxQB for UAP1 Gene

SOURCE GeneReport for Unigene cluster for UAP1 Gene Hs.492859

mRNA Expression by UniProt/SwissProt for UAP1 Gene

Q16222-UAP1_HUMAN
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
genes like me logo Genes that share expressions with UAP1: view

Expression partners for UAP1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia UAP1 35
  • 93.6 (n)
  • 96.04 (a)
UAP1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UAP1 35
  • 92.54 (n)
  • 96.24 (a)
UAP1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uap1 35
  • 88.65 (n)
  • 93.47 (a)
Uap1 16
Uap1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UAP1 35
  • 99.67 (n)
  • 99.8 (a)
UAP1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uap1 35
  • 86.93 (n)
  • 93.27 (a)
oppossum
(Monodelphis domestica)
Mammalia UAP1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UAP1 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves UAP1 35
  • 70.45 (n)
  • 80.45 (a)
UAP1 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UAP1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2734 35
uap1 35
  • 69.64 (n)
  • 74.4 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5556 35
zebrafish
(Danio rerio)
Actinopterygii Dr.3773 35
uap1 35
  • 70.7 (n)
  • 75.4 (a)
uap1 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:LD24639 37
  • 51 (a)
mmy 35
  • 56.41 (n)
  • 54.27 (a)
mmy 36
  • 49 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007889 35
  • 54.66 (n)
  • 51.53 (a)
worm
(Caenorhabditis elegans)
Secernentea C36A4.4 37
  • 37 (a)
K06B9.2 37
  • 43 (a)
C36A4.4 36
  • 35 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL192C 35
  • 49.02 (n)
  • 45.25 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E01673g 35
  • 50.52 (n)
  • 43.58 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes QRI1 35
  • 50.18 (n)
  • 43.08 (a)
QRI1 36
  • 41 (a)
OneToMany
QRI1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons GlcNA.1UT2 35
  • 52.55 (n)
  • 45.45 (a)
rice
(Oryza sativa)
Liliopsida Os04g0613700 35
  • 53.12 (n)
  • 44.7 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5408 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02109 35
  • 52.21 (n)
  • 48.16 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes uap1 35
  • 47.56 (n)
  • 40.37 (a)
Species with no ortholog for UAP1:
  • 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

ENSEMBL:
Gene Tree for UAP1 (if available)
TreeFam:
Gene Tree for UAP1 (if available)

Paralogs for UAP1 Gene

Paralogs for UAP1 Gene

Selected SIMAP similar genes for UAP1 Gene using alignment to 1 proteins:

Pseudogenes.org 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 Sequence Context AA Info Type MAF
rs1039867 -- 162,576,365(-) GTAAG(A/G)ACCGA intron-variant
rs1039868 -- 162,576,005(-) ggtag(C/T)tacgt intron-variant
rs1039869 -- 162,576,001(-) gctac(A/G)tgagt intron-variant
rs1128539 - 162,590,406(+) CAACC(A/C)TACTA missense, reference
rs1473000 -- 162,598,938(+) TTGAA(A/G)CTGGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv516482 CNV Gain+Loss 19592680

Relevant External Links for UAP1 Gene

HapMap Linkage Disequilibrium report
UAP1

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

Disorders for UAP1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for UAP1 Gene in MalaCards »

(1) Diseases for UAP1 Gene including...

(4) Novoseek inferred disease relationships for UAP1 Gene

Disease -log(P) Hits PubMed IDs
hepatitis b 54.1 12
hepatocellular carcinoma 25.4 2
hepatitis 21.8 2
cancer 0 2

Relevant External Links for UAP1

Genetic Association Database (GAD)
UAP1
Human Genome Epidemiology (HuGE) Navigator
UAP1
genes like me logo Genes that share disorders with UAP1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES and Genatlas for UAP1 Gene

Publications for UAP1 Gene

  1. Characterization of a human antigen with sera from infertile patients. (PMID: 8025165) Diekman A.B. … Goldberg E. (Biol. Reprod. 1994) 2 3 4 23
  2. The eukaryotic UDP-N-acetylglucosamine pyrophosphorylases: gene cloning, protein expression, and catalytic mechanism. (PMID: 9603950) Mio T. … Yamada-Okabe H. (J. Biol. Chem. 1998) 2 3 4 23
  3. A 17-amino acid insert changes UDP-N-acetylhexosamine pyrophosphorylase specificity from UDP-GalNAc to UDP-GlcNAc. (PMID: 9765219) Wang-Gillam A. … Elbein A.D. (J. Biol. Chem. 1998) 3 4 23
  4. 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. (EMBO J. 2001) 3 4 23
  5. Expression of the human antigen SPAG2 in the testis and localization to the outer dense fibers in spermatozoa. (PMID: 9621304) Diekman A.B. … Goldberg E. (Mol. Reprod. Dev. 1998) 3 23

Products for UAP1 Gene

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