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FLASH GENE
Symbol UAP1 contributors: - updated : 20-11-2006
HGNC name UDP-N-acteylglucosamine pyrophosphorylase 1
HGNC id 12457
Location 1q23.3      Physical location : 162.531.295 - 162.569.632
Synonym name sperm associated antigen 2
Synonym symbol(s) AGX1, AGX, SPAG2
EC.number 2.7.7.23, 2.7.7.-
DNA
TYPE functioning gene
STRUCTURE 38.00 kb     10 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
MPZ 1q22 myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) SDHC 1q21 succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa LOC257177 1q23.1 similar to hypothetical protein MGC20470 LOC148430 1q23.1 similar to ribosomal protein S2; 40S ribosomal protein S2 LOC388709 1 LOC388709 LOC388710 1 LOC388710 FCGR2A 1q23 Fc fragment of IgG, low affinity IIa, receptor for (CD32) HSPA6 1q heat shock 70kDa protein 6 (HSP70B') FCGR3A 1q23 Fc fragment of IgG, low affinity IIIa, receptor for (CD16) FCGR3B 1q23 Fc fragment of IgG, low affinity IIIb, receptor for (CD16) FCGR2B 1q23 Fc fragment of IgG, low affinity IIb, receptor for (CD32) FREB 1q23.1 Fc fragment of IgG, low affinity IIb, receptor for (CD32) FLJ31052 1q23.1 hypothetical protein FLJ31052 DUSP12 1q22 dual specificity phosphatase 12 ATF6 1q22-q23 activating transcription factor 6 DKFZP586L151 1q23.1 DKFZP586L151 protein CAPON 1q23.1-q23.2 C-terminal PDZ domain ligand of neuronal nitric oxide synthase LOC284680 1q23.2 hypothetical protein LOC284680 EAT2 1q22 Homo sapiens SH2 domain-containing molecule EAT2 (EAT2), mRNA. KIS 1q23.2 kinase interacting with leukemia-associated gene (stathmin) UAP1 1q23.1 UDP-N-acteylglucosamine pyrophosphorylase 1 DDR2 1q21-q23 discoidin domain receptor family, member 2 HSD17B7 17p11.2 hydroxysteroid (17-beta) dehydrogenase 7 MGC48998 1q23.2 hypothetical protein MGC48998 RGS4 1q23.2 regulator of G-protein signalling 4 RGS5 1q23 regulator of G-protein signalling 5 CDCA1 1q23.1 cell division cycle associated 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- splicing 2323 56.9 505 . widely . more abundant in testis than AGX2 Diekman
  • nucleotide binding motifs
  • globular and cytosolic
  • having 2 to 3 times higher activity towards GalNAc-1-P
  • homodimer
  • EC 2.7.7.-
  • - splicing - 58.8 522 . more abundant in somatic tissue than AGX1 . lowly in placenta, muscle and liver . cytosolic Diekman
  • containing a 48 bp insertion encoding 16 amino acids in the C terminal region compared to AGX1
  • globular
  • nucleotide binding motifs
  • having 8 times more activity towards GlcNAc-1-P
  • monomer
  • EC 2.7.7.23
  • EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   moderately
    Digestivemouth   predominantly
    Endocrineneuroendocrinepituitary  moderately
    Nervousnervecranial nerve  moderately
    Reproductivefemale systemuterus  moderately
     male systemprostate  moderately
     male systemtestis  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Connectivebone  moderately
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatozoa
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text moderately in umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Uap1 (93.3 pc)
    Homologene
    FAMILY
  • eukaryotic UDPGP family
  • CATEGORY enzyme , antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text
  • localized in the principal piece of the tail, the neck region of the head and to a lesser extent, the midpiece of the tail
  • basic FUNCTION
  • UDP-N-acetylgalactosamine pyrophosphorylase (AGX-1) converting GalNAc-1-p into UDP-GalNAc in the presence of UTP
  • UDP-N-acetylglucosamine pyrophosphrylase (AGX2) catalyzing the synthesis of GlcNAc-1-p into UDP-GlcNAc in the presence of UTP
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism amine
    signaling
  • UDP-N-acetylglucosamine biosynthesis fourth and last step of UDP-GlcNAc biogenesis from fru6-p
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    implicated in antibody-mediated male infertility
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS