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UAP1 Gene

protein-coding   GIFtS: 65
GCID: GC01P162531

UDP-N-Acteylglucosamine Pyrophosphorylase 1


(Previous symbol: SPAG2)
  See UAP1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
UDP-N-Acteylglucosamine Pyrophosphorylase 11 2     AGX22
SPAG21 2 3 5     Sperm Associated Antigen 22
Antigen X2 3     UDP-N-Acetylhexosamine Pyrophosphorylase2
Sperm-Associated Antigen 22 3     EC 2.7.78
AGX2 3     EC 2.7.7.238
AGX12     EC 2.7.7.278

External Ids:    HGNC: 124571   Entrez Gene: 66752   Ensembl: ENSG000001171437   OMIM: 6028625   UniProtKB: Q162223   

Export aliases for UAP1 gene to outside databases

Previous GC identifers: GC01P160166 GC01P158182 GC01P159227 GC01P159718 GC01P159262 GC01P160797 GC01P133776


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for UAP1 Gene:
UAP1 (UDP-N-acteylglucosamine pyrophosphorylase 1) is a protein-coding gene. Diseases associated with UAP1 include hepadnavirus infection. 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: UAP1_HUMAN, Q16222
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

Gene Wiki entry for UAP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UAP1 gene promoter:
         Sp1   AML1a   POU6F1 (c2)   POU2F1   POU2F1a   POU2F1b   POU2F1c   Pax-4a   ATF6   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUAP1 promoter sequence
   Search Chromatin IP Primers for UAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UAP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q23.3   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q23.2

UAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UAP1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P162531:  view genomic region     (about GC identifiers)

Start:
162,531,296 bp from pter      End:
162,569,633 bp from pter
Size:
38,338 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: UAP1_HUMAN, Q16222 (See protein sequence)
Recommended Name: UDP-N-acetylhexosamine pyrophosphorylase  
Size: 522 amino acids; 58769 Da
Subunit: Monomer and homodimer. Isoform AGX1 is a homodimer. Isoform AGX2 is a monomer
4 PDB 3D structures from and Proteopedia for UAP1:
1JV1 (3D)        1JV3 (3D)        1JVD (3D)        1JVG (3D)    
Secondary accessions: B2R6R8 Q5VTA9 Q5VTB0 Q5VTB1 Q96GM2
Alternative splicing: 3 isoforms:  Q16222-1   Q16222-2   Q16222-3   

Explore the universe of human proteins at neXtProt for UAP1: NX_Q16222

Explore proteomics data for UAP1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys12, Lys63
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for UAP1 (Q16222) (see all 7)
     YCVDNIL  EFSPLKN  VVEYSEIS  ADCGAKVV 


    See UAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003106.3  
    ENSEMBL proteins: 
     ENSP00000356903   ENSP00000356902   ENSP00000356901   ENSP00000271469  
    Reactome Protein details: Q16222

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR002618 UDPGP_trans

    Graphical View of Domain Structure for InterPro Entry Q16222

    ProtoNet protein and cluster: Q16222

    1 Blocks protein domain: IPB002618 UTP--glucose-1-phosphate uridylyltransferase

    UniProtKB/Swiss-Prot: UAP1_HUMAN, Q16222
    Similarity: Belongs to the UDPGP type 1 family


    Find genes that share domains with UAP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UAP1_HUMAN, Q16222
    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
    Catalytic activity: UTP + N-acetyl-alpha-D-galactosamine 1-phosphate = diphosphate +
    UDP-N-acetyl-alpha-D-galactosamine
    Catalytic activity: UTP + N-acetyl-alpha-D-glucosamine 1-phosphate = diphosphate +
    UDP-N-acetyl-alpha-D-glucosamine

         Enzyme Numbers (IUBMB): EC 2.7.7.272 EC 2.7.72 EC 2.7.7.232

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003977UDP-N-acetylglucosamine diphosphorylase activity TAS--
    GO:0016779nucleotidyltransferase activity ----
    GO:0030246carbohydrate binding IEA--
         
    Find genes that share ontologies with UAP1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for UAP1

    miRNA
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    hsa-mir-155-5p (MIRT020940), hsa-mir-30a-5p (MIRT005200)

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    5 qRT-PCR Assays for microRNAs that regulate UAP1:
    hsa-miR-3163 hsa-miR-2115 hsa-miR-27a hsa-miR-624* hsa-miR-27b
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UAP1_HUMAN, Q16222: 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: 

    CompartmentConfidence
    cytosol4
    nucleus4
    plasma membrane4
    peroxisome2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ----

    Find genes that share ontologies with UAP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for UAP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism
    UDP-N-acetyl-D-galactosamine biosynthesis II0.00
    UDP-N-acetyl-D-glucosamine biosynthesis II0.00
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Metabolism of proteins0.30
    Post-translational protein modification0.43
    Synthesis of substrates in N-glycan biosythesis0.00
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
    Synthesis of UDP-N-acetyl-glucosamine0.00
    3Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with UAP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for UAP1
        UDP-N-acetyl-D-glucosamine biosynthesis II
    UDP-N-acetyl-D-galactosamine biosynthesis II

    1 Reactome Pathway for UAP1
        Synthesis of UDP-N-acetyl-glucosamine


    2 Kegg Pathways  (Kegg details for UAP1):
        Amino sugar and nucleotide sugar metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: UAP1_HUMAN, Q16222
    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UAP1
    Interactions:

        Search GeneGlobe Interaction Network for UAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for UAP1 (Q162223 ENSP000003569034) via UniProtKB, MINT, STRING, and/or I2D (see all 36)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    UBR3Q6ZT123, ENSP000003960684I2D: score=1 STRING: ENSP00000396068
    PSMD14O004873, ENSP000003865414I2D: score=1 STRING: ENSP00000386541
    CTHP329293I2D: score=1 
    GCSHP234343I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006047UDP-N-acetylglucosamine metabolic process ----
    GO:0006048UDP-N-acetylglucosamine biosynthetic process TAS--
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0008152metabolic process ----
    GO:0018279protein N-linked glycosylation via asparagine TAS--

    Find genes that share ontologies with UAP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for UAP1

    6 HMDB Compounds for UAP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Glucosamine-1Palpha-D-glucosamine 1-phosphate (see all 5)----
    N-Acetyl-glucosamine 1-phosphateD-glucosamine 1-phosphate (see all 9)901851-43-2--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Uridine diphosphate-N-acetylglucosamineN-[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 (see all 30)528-04-1--
    Uridine triphosphate5'-UTP (see all 7)63-39-8--

    2 DrugBank Compounds for UAP1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Uridine-Diphosphate-N-Acetylgalactosamine-- --target--17139284 17016423
    Uridine-Diphosphate-N-Acetylglucosamine-- --target--17139284 17016423

    3 Novoseek inferred chemical compound relationships for UAP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    udp-n-acetylglucosamine 89.6 29 10799561 (5), 9603950 (3), 1484552 (1), 15803415 (1) (see all 10)
    glucosamine 6-phosphate 69.1 1 10799561 (1)
    chitin 39.3 1 16368930 (1)



    Find genes that share compounds with UAP1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UAP1 gene: 
    NM_003115.4  

    Unigene Cluster for UAP1:

    UDP-N-acteylglucosamine pyrophosphorylase 1
    Hs.492859  [show with all ESTs]
    Unigene Representative Sequence: NM_003115
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367926(uc001gce.4) ENST00000476240 ENST00000367925 ENST00000367924
    ENST00000474728 ENST00000486089 ENST00000271469
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    Additional mRNA sequence: 

    AB011004.1 AK312685.1 BC009377.2 S73498.1 

    15 DOTS entries:

    DT.443886  DT.95145449  DT.100795034  DT.92030233  DT.100795035  DT.121390409  DT.91734525  DT.92450348 
    DT.100795030  DT.100795033  DT.120969840  DT.206569  DT.65286153  DT.95145462  DT.40111992 

    Selected AceView cDNA sequences (see all 264):

    BM461698 AW603977 BU674497 NM_003115 BI857964 AL047513 CB111893 CD558935 
    BU166439 BM450979 AL576735 AA745163 AI373868 BM785654 BE925981 AL520092 
    BU508403 BU620707 BE122761 AW073081 BU679071 BM552037 AW136085 AL045213 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for UAP1 (see all 9)    About this scheme

    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:                    -                                                                                                                                       


    ECgene alternative splicing isoforms for UAP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGAAAGGTT
    UAP1 Expression
    About this image


    UAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Heart (Cardiovascular System)
             Mature Cardiac Fibroblasts Myocardium
     
     Fibroblasts
             Mature Cardiac Fibroblasts Myocardium
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Testis (Reproductive System)
    UAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UAP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.492859

    UniProtKB/Swiss-Prot: UAP1_HUMAN, Q16222
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UAP1 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uap11 , 5 UDP-N-acetylglucosamine pyrophosphorylase 11, 5 88.65(n)1
    93.47(a)1
      1 (76.84 cM)5
    1076521  NM_133806.41  NP_598567.21 
     1701419385 
    chicken
    (Gallus gallus)
    Aves UAP11 UDP-N-acteylglucosamine pyrophosphorylase 1 70.45(n)
    80.45(a)
      424368  XM_003641671.2  XP_003641719.2 
    lizard
    (Anolis carolinensis)
    Reptilia UAP16
    UDP-N-acteylglucosamine pyrophosphorylase 1
    77(a)
    1 ↔ 1
    GL343300.1(1138794-1167303)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.55562 Xenopus laevis transcribed sequence with moderate similarity more 77.69(n)    CA972646.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.37732 Danio rerio mRNA similar to expressed sequence AA42 more 75.92(n)    BC044137.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:LD246393
    mmy1
    UDP-N-acetylglucosamine
    pyrophosphorylase3
    mummy1
    51(a)3
    56.41(n)1
    54.27(a)1
      26D73
    339031  NM_135188.21  NP_609032.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K06B9.23   -- 43(a)
    (best of 2)
      IV(4194487-4196092)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes QRI1(YDL103C)4
    QRI11
    UDP-N-acetylglucosamine pyrophosphorylase, catalyzes more4
    QRI11
    50.18(n)1
    43.08(a)1
      4(276581-275148)4
    8514551, 4  NP_010180.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GlcNA.1UT21 GlcNA.1UT2 52.55(n)
    45.45(a)
      818066  NM_129054.3  NP_181047.1 
    rice
    (Oryza sativa)
    Liliopsida AK071409.12   -- 73.5(n)    AK071409.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UAP1 gene
    UAP1L12  
    1 SIMAP similar gene for UAP1 using alignment to 1 protein entry:     UAP1_HUMAN:
    UAP1L1

    Find genes that share paralogs with UAP1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for UAP1
    PGOHUM00000237424


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for UAP1 (see all 827)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs120457601,2
    C,Funtested1162566561(+) ACTACA/C/GTACTT 1 -- int15NA EA 246
    rs779446101,2
    C,F--162529489(+) TTCGAA/CGGACA 1 -- us2k12Minor allele frequency- C:0.13WA NA 238
    rs1865856691,2
    --162529503(+) ATAACA/TCTAGT 1 -- us2k10--------
    rs602589331,2
    C--162529511(+) GTGTT-/AAGACA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1384100511,2
    --162529563(+) TTATGA/CCTAGT 1 -- us2k10--------
    rs1492418361,2
    C--162529665(+) CCTCAG/TTTCTA 1 -- us2k10--------
    rs1889842731,2
    C--162529917(+) TCCTAA/GTTTGA 1 -- us2k10--------
    rs1446488861,2
    --162529927(+) AATTAA/TTAAGT 1 -- us2k10--------
    rs1393580771,2
    --162530000(+) ATCGAC/TTGGTT 1 -- us2k10--------
    rs1817075651,2
    --162530017(+) AACCAC/TCAAAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UAP1 (162531296 - 162569633 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for UAP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv516482CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for UAP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602862    OMIM disorders: --

    1 disease for UAP1:    
    About MalaCards
    hepadnavirus infection


    Find genes that share disorders with UAP1           About GenesLikeMe

    4 Novoseek inferred disease relationships for UAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hepatitis b 54.1 16 2311861 (3), 2353461 (2), 1955710 (2), 7658063 (1) (see all 8)
    hepatocellular carcinoma 25.4 2 10208429 (2)
    hepatitis 21.8 2 2365196 (1), 2311861 (1)
    cancer 0 2 17305540 (1), 10449611 (1)

    Genetic Association Database (GAD): UAP1
    Human Genome Epidemiology (HuGE) Navigator: UAP1 (1 document)

    Export disorders for UAP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UAP1 gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with UAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a human antigen with sera from infertile patients. (PubMed id 8025165)1, 2, 3, 9 Diekman A.B. and Goldberg E. (Biol. Reprod. 1994)
    2. The eukaryotic UDP-N-acetylglucosamine pyrophosphorylases: gene cloning, protein expression, and catalytic mechanism. (PubMed id 9603950)1, 2, 3, 9 Mio T.... Yamada-Okabe H. (J. Biol. Chem. 1998)
    3. A 17-amino acid insert changes UDP-N-acetylhexosamine pyrophosphorylase specificity from UDP-GalNAc to UDP-GlcNAc. (PubMed id 9765219)1, 2, 9 Wang-Gillam A.... Elbein A.D. (J. Biol. Chem. 1998)
    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. (PubMed id 11707391)1, 2, 9 Peneff C.... Bourne Y. (EMBO J. 2001)
    5. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1, 4 Ehret G.B....Chakravarti A. (Eur. J. Hum. Genet. 2009)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Expression of the human antigen SPAG2 in the testis and localization to the outer dense fibers in spermatozoa. (PubMed id 9621304)1, 9 Diekman A.B....Goldberg E. (Mol. Reprod. Dev. 1998)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 6675 HGNC: 12457 AceView: UAP1 Ensembl:ENSG00000117143 euGenes: HUgn6675
    ECgene: UAP1 Kegg: 6675 H-InvDB: UAP1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for UAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for UAP1 gene:
    Search GeneIP for patents involving UAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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