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GIFtS

UAP1 Gene

protein-coding   GIFtS: 63
GCID: GC01P162531

UDP-N-acteylglucosamine pyrophosphorylase 1


(Previous symbol: SPAG2)
 Explore 18 diseases affiliated with
UAP1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for UAP1    

Aliases
for UAP1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
UDP-N-Acteylglucosamine Pyrophosphorylase 11 2     AGX22
SPAG21 2 3     Sperm Associated Antigen 22
AGX11 2     UDP-N-Acetylhexosamine Pyrophosphorylase2
Antigen X2 3     EC 2.7.78
Sperm-Associated Antigen 22 3     EC 2.7.7.238
AGX2 3     EC 2.7.7.278
AgX1     

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


Summaries
for UAP1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences 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 plasmid: UAP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for UAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for UAP1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: 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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16222

    • 4/7 DME Specific Peptides for UAP1 (Q16222) (see all 7)
     YCVDNIL  EFSPLKN  VVEYSEIS  ADCGAKVV 

    UAP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003106.3  
    ENSEMBL proteins: 
     ENSP00000395648   ENSP00000356903   ENSP00000356902   ENSP00000356901   ENSP00000271469  
    Reactome Protein details: Q16222
    Human Recombinant Protein Products: 
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    Uscn Proteins for UAP1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--


    UAP1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for UAP1

    Protein Domains /
    Families
    for UAP1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    UAP1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002618 UDPGP_trans

    Graphical View of Domain Structure for InterPro Entry Q16222

    ProtoNet protein and cluster: Q16222

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

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


    Function
    for UAP1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate UAP1:
    hsa-miR-3163 hsa-miR-2115 hsa-miR-27a hsa-miR-624* hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmid: UAP1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003977UDP-N-acetylglucosamine diphosphorylase activity TAS--
    GO:0016779nucleotidyltransferase activity ----
    GO:0030246carbohydrate binding IEA--


    UAP1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for UAP1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1UDP-N-acetyl-D-glucosamine biosynthesis II
    		UDP-N-acetyl-D-glucosamine biosynthesis II1.00
    		UDP-N-acetyl-D-galactosamine biosynthesis II0.30
    		Synthesis of UDP-N-acetyl-glucosamine0.67
    2Asparagine N-linked glycosylation
    		Asparagine N-linked glycosylation1.00
    		Metabolism of proteins0.15
    		Post-translational protein modification0.44
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    		Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein1.00
    		Synthesis of substrates in N-glycan biosythesis0.53
    4Amino sugar and nucleotide sugar metabolism
    		Amino sugar and nucleotide sugar metabolism1.00
    5Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/6        Reactome Pathways for UAP1 (see all 6)
        Synthesis of substrates in N-glycan biosythesis
    Asparagine N-linked glycosylation
    Metabolism of proteins
    Post-translational protein modification
    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


    UAP1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/21 Interacting proteins for UAP1 (Q162223 ENSP000003569034) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    CTHP329293I2D: score=1 
    GCSHP234343I2D: score=1 
    GGPS1O957493I2D: score=1 
    IQGAP2Q135763I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006048UDP-N-acetylglucosamine biosynthetic process TAS--
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--


    UAP1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for UAP1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    UAP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about UAP1 

    Transcripts
    for UAP1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000412525 ENST00000367926(uc001gce.4) ENST00000476240 ENST00000367925
    ENST00000367924 ENST00000474728 ENST00000486089 ENST00000271469

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    Inhib. RNA
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    Additional cDNA 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 

    24/264 AceView cDNA sequences (see all 264):

    BU679071 AW827133 BU506926 BU154308 AW073081 BU161080 AI989289 BM785654 
    BI857964 CB111893 BI868453 AL045213 BM552037 BC009377 AL576735 AW073997 
    BM450979 AL520092 CB129958 CB158572 NM_003115 BM828651 BM856655 BU674497 

    GeneLoc Exon Structure

    5/9 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

    Expression
    for UAP1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGAAAGGTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See UAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UAP1

    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
    for UAP1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UAP1 gene from 9/34 species (see all 34)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves UAP11 UDP-N-acteylglucosamine pyrophosphorylase 1 70.38(n)
    80.45(a)    		   424368  XM_003641671.1  XP_003641719.1 
    lizard
    (Anolis carolinensis)    		 Reptilia UAP16
    		 --
    		 77(a)
    		 1 ↔ 1
    		 GL343300.1(1142778-1161099)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.55562 Xenopus laevis transcribed sequence with moderate similarity to protein spQ16222 (H.sapiens) UAP1_HUMAN UDP-N-acetylhexosamine pyrophosphorylase (Antigen X) (AGX) (Sperm-associated antigen 2) [Includes UDP-N-acetylgalactosamine pyrophosphorylase (AGX-1) less 77.69(n)    CA972646.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.37732 Danio rerio mRNA similar to expressed sequence AA420407 (cDNA clone MGC55280 IMAGE2599644), complete cds less 75.92(n)    BC044137.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta BcDNA:LD246393
    mmy1    		 UDP-N-acetylglucosamine pyrophosphorylase3
    mummy1    		 51(a)3
    56.68(n)1
    54.53(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 the formation of UDP-N-acetylglucosamine (UDP-GlcNAc), which is important in cell wall biosynthesis, protein N-glycosylation, and GPI anchor biosynthesis less4
    Qri1p1    		 50.18(n)1
    42.64(a)1    		   4(276581-275148)4
    8514551, 4  NP_010180.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons GlcNA.1UT21 putative UDP-N-acetylglucosamine pyrophosphorylase 52.65(n)
    45.41(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
    for UAP1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UAP1 gene
    UAP1L12  
    1 SIMAP similar gene for UAP1 using alignment to 2 protein entries:     UAP1_HUMAN (see all proteins):
    UAP1L1

    UAP1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for UAP1
    PGOHUM00000237424


    Genomic Variants
    for UAP1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/692 NCBI SNPs in UAP1 are shown (see all 692)     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,F,unknown162566561(+) ACTACA/C/GTACTT 1 -- int15NA EA 246
    rs779446101,2
    		F,--162529489(+) TTCGAA/CGGACA 1 -- us2k12Minor allele frequency- C:0.13WA NA 238
    rs1865856691,2
    		--162529503(+) ATAACA/TCTAGT 1 -- us2k10--------
    rs1131551941,2
    		C,--162529511(+) GTGTT-/AAGACA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1384100511,2
    		--162529563(+) TTATGA/CCTAGT 1 -- us2k10--------
    rs1492418361,2
    		--162529665(+) CCTCAG/TTTCTA 1 -- us2k10--------
    rs1889842731,2
    		--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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for UAP1
         1 CNV: 48150

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for UAP1 gene

    (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.)
    About This Section
    UAP1 for disorders           About GeneDecksing

    OMIM gene information: 602862    OMIM disorders: --

    18 diseases for UAP1:    About MalaCards
    hepadnavirus infection    esophageal squamous cell carcinoma    squamous cell carcinoma    intrahepatic cholangiocarcinoma
    essential hypertension    hepatitis b    hepatocellular carcinoma    cholangiocarcinoma
    hepatitis    pneumonia    hypertension    esophagitis
    infertility    carcinoma    colorectal cancer    lung cancer
    malaria    hepatitis b virus infection

    4 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: UAP1 (1 document)

    Export disorders for UAP1 gene to outside databases

    Publications
    for UAP1 gene

    (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)
    About This Section

    PubMed articles for UAP1 gene, integrated from 9 sources (see all 53):
    (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. (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. (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. (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. (2001)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    6. 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. (2004)
    7. 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. (1998)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    External Searches for UAP1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing UAP1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6675 HGNC: 12457 AceView: UAP1 Ensembl:ENSG00000117143 euGenes: HUgn6675
    ECgene: UAP1 Kegg: 6675 H-InvDB: UAP1

    Other Databases showing UAP1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing UAP1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UAP1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for UAP1 gene

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