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UAP1L1 Gene

protein-coding   GIFtS: 49
GCID: GC09P139971

UDP-N-Acteylglucosamine Pyrophosphorylase 1-Like 1

  Search for UAP1L1
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 1-Like 11 2
UDP-N-Acetylhexosamine Pyrophosphorylase-Like Protein 12
EC 2.7.7.-3
EC 2.7.78
EC 2.7.7.238
EC 2.7.7.278

External Ids:    HGNC: 280821   Entrez Gene: 913732   Ensembl: ENSG000001973557   UniProtKB: Q3KQV93   

Export aliases for UAP1L1 gene to outside databases

Previous GC identifers: GC09P135329 GC09P137248 GC09P139091 GC09P109431


(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 UAP1L1 Gene:
UAP1L1 (UDP-N-acteylglucosamine pyrophosphorylase 1-like 1) is a protein-coding gene. GO annotations related to this gene include nucleotidyltransferase activity. An important paralog of this gene is UAP1.


(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:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UAP1L1 gene promoter:
         HOXA9B   HOXA9   AhR   RFX1   Pax-5   E47   Meis-1b   HSF2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUAP1L1 promoter sequence
   Search Chromatin IP Primers for UAP1L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UAP1L1


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

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

UAP1L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UAP1L1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P139971:  view genomic region     (about GC identifiers)

Start:
139,971,953 bp from pter      End:
139,978,991 bp from pter
Size:
7,039 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: UAP1L_HUMAN, Q3KQV9 (See protein sequence)
Recommended Name: UDP-N-acetylhexosamine pyrophosphorylase-like protein 1  
Size: 507 amino acids; 57030 Da
Sequence caution: Sequence=AAI06036.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAH10651.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=EAW88343.1;
Type=Erroneous gene model prediction;
Secondary accessions: A2AMJ8 Q5SPZ2 Q69YQ3 Q6ZR38
Alternative splicing: 2 isoforms:  Q3KQV9-1   Q3KQV9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UAP1L1: NX_Q3KQV9

Explore proteomics data for UAP1L1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for UAP1L1 (Q3KQV9) (see all 10)
     YCVDNIL  EFSPLKN  ADCGAKVV  ADPVFIGF 


    See UAP1L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_997192.2  
    ENSEMBL proteins: 
     ENSP00000386935   ENSP00000353409  

    UAP1L1 Human Recombinant Protein Products:

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    Abcam antibodies for UAP1L1
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    UAP1L1 Assay Products:

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    Cloud-Clone Corp. CLIAs for UAP1L1


    (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 Q3KQV9

    ProtoNet protein and cluster: Q3KQV9

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

    UniProtKB/Swiss-Prot: UAP1L_HUMAN, Q3KQV9
    Similarity: Belongs to the UDPGP type 1 family


    UAP1L1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Enzyme Numbers (IUBMB): EC 2.7.7.272 EC 2.7.7.-1 EC 2.7.72 EC 2.7.7.232

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016779nucleotidyltransferase activity IEA--
         
    UAP1L1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for UAP1L1:
     Increased cell number in G2M,   Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UAP1L1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UAP1L1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UAP1L1

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate UAP1L1:
    hsa-miR-3934
    SwitchGear 3'UTR luciferase reporter plasmidUAP1L1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UAP1L1
    Predesigned siRNA for gene silencing in human, mouse, rat UAP1L1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: UAP1L1 (NM_207309)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UAP1L1


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    cytoskeleton1
    extracellular1
    golgi apparatus1

    (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 UAP1L1 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
    2Metabolism
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for UAP1L1
        UDP-N-acetyl-D-glucosamine biosynthesis II
    UDP-N-acetyl-D-galactosamine biosynthesis II


    2 Kegg Pathways  (Kegg details for UAP1L1):
        Amino sugar and nucleotide sugar metabolism
    Metabolic pathways


    UAP1L1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UAP1L1
    Interactions:

        Search GeneGlobe Interaction Network for UAP1L1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for UAP1L1 (ENSP000003869354) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PGM3ENSP000002839774STRING: ENSP00000283977
    GNEENSP000003798394STRING: ENSP00000379839
    SLC37A1ENSP000003446484STRING: ENSP00000344648
    SLC37A2ENSP000003118334STRING: ENSP00000311833
    SLC37A3ENSP000003214984STRING: ENSP00000321498
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process ----

    UAP1L1 for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UAP1L1 (UAP1L)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for UAP1L1 gene: 
    NM_207309.2  

    Unigene Cluster for UAP1L1:

    UDP-N-acteylglucosamine pyrophosphorylase 1-like 1
    Hs.142076  [show with all ESTs]
    Unigene Representative Sequence: NM_207309
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409858(uc010ncb.3) ENST00000476184 ENST00000360271(uc004cla.4)
    ENST00000474787
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat UAP1L1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate UAP1L1:
    hsa-miR-3934
    SwitchGear 3'UTR luciferase reporter plasmidUAP1L1 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat UAP1L1
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    GenScript: all cDNA clones in your preferred vector: UAP1L1 (NM_207309)
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for UAP1L1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UAP1L1
      QuantiTect SYBR Green Assays in human, mouse, rat UAP1L1
      QuantiFast Probe-based Assays in human, mouse, rat UAP1L1

    Additional mRNA sequence: 

    AK022632.1 AK095393.1 BC010529.1 BC012838.1 BC041644.1 BC106035.1 BC136391.1 

    5 DOTS entries:

    DT.424855  DT.100834723  DT.433754  DT.100777744  DT.121200581 

    Selected AceView cDNA sequences (see all 63):

    CK819561 BC041644 BM129547 AK022632 AI880199 AA179706 AK128529 NM_207309 
    BG056072 AL832421 AI268812 BC012838 BM272219 BQ437535 BQ670945 BC010529 
    BQ232243 BQ063560 C01904 CK819560 CD671165 CA453923 AU125020 BU622635 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for UAP1L1    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                    -                                                   


    ECgene alternative splicing isoforms for UAP1L1

    (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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    UAP1L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGGAACAG
    UAP1L1 Expression
    About this image

    UAP1L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UAP1L1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.142076
        Custom PCR Arrays for UAP1L1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UAP1L1

    (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 animals and fungi.

    Orthologs for UAP1L1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uap1l11 , 5 UDP-N-acteylglucosamine pyrophosphorylase 1-like 11, 5 83(n)1
    83.4(a)1
      2 (17.19 cM)5
    2276201  NM_001033293.21  NP_001028465.11 
     253598895 
    chicken
    (Gallus gallus)
    Aves UAP1L11 UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 72.87(n)
    70.85(a)
      417295  XM_415568.4  XP_415568.2 
    lizard
    (Anolis carolinensis)
    Reptilia UAP1L16
    UDP-N-acteylglucosamine pyrophosphorylase 1-like 1...
    72(a)
    1 ↔ 1
    GL344941.1(704-4366)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU901155.12   -- 76.93(n)    BU901155.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc565092 hypothetical protein MGC56509 76.98(n)   393264  BC049467.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mmy6
    mummy
    47(a)
    1 → many
    2L(6468538-6473919)
    worm
    (Caenorhabditis elegans)
    Secernentea C36A4.46
    Protein C36A4.4 (C36A4.4) mRNA, complete cds
    35(a)
    1 → many
    III(3841258-3843614) WBGene00007965
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes QRI16
    UDP-N-acetylglucosamine pyrophosphorylase, catalyz...
    38(a)
    1 → many
    IV(275148-276581) YDL103C


    ENSEMBL Gene Tree for UAP1L1 (if available)
    TreeFam Gene Tree for UAP1L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UAP1L1 gene
    UAP12  
    1 SIMAP similar gene for UAP1L1 using alignment to 3 protein entries:     UAP1L_HUMAN (see all proteins):
    UAP1

    UAP1L1 for paralogs           About GeneDecksing



    (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)
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    Selected SNPs for UAP1L1 (see all 255)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1502171141,2
    --139970006(+) ACTTGC/TTTTTG 1 -- us2k10--------
    rs1390739781,2
    C--139970010(+) GCTTTG/TGCTTT 1 -- us2k10--------
    rs1831323221,2
    --139970023(+) TGTATA/GGGCTT 1 -- us2k10--------
    rs48800881,2
    C,F,A,H--139970225(+) tcaagC/Tgattc 1 -- us2k14Minor allele frequency- T:0.38NA 8
    rs78579911,2
    C,F,A--139970330(+) tagagT/Acaggg 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs591686101,2
    C--139970441(+) TTTTTT/-GAGAC 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs78617491,2
    C,A--139970480(+) cgctcG/Tgtcac 1 -- us2k10--------
    rs1878089891,2
    --139970508(+) GGTGCC/GATCTT 1 -- us2k10--------
    rs117895691,2
    H--139970709(+) caaggG/Tgttag 1 -- us2k10--------
    rs1492983631,2
    C--139970818(+) GTTTTA/GTGCCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UAP1L1 (139971953 - 139978991 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for UAP1L1 (see all 31):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422220CNV Deletion17116639
    dgv8416n71CNV Loss21882294
    dgv8439n71CNV Loss21882294
    dgv8440n71CNV Loss21882294
    dgv8445n71CNV Loss21882294
    dgv8441n71CNV Loss21882294
    dgv8428n71CNV Loss21882294
    nsv894589CNV Loss21882294
    nsv894521CNV Loss21882294
    nsv894503CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UAP1L1
    DNA2.0 Custom Variant and Variant Library Synthesis for UAP1L1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (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 UAP1L1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with UAP1L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (Nature 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 91373 HGNC: 28082 AceView: UAP1L1 Ensembl:ENSG00000197355 euGenes: HUgn91373
    ECgene: UAP1L1 Kegg: 91373 H-InvDB: UAP1L1

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for UAP1L1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UAP1L1 gene:
    Search GeneIP for patents involving UAP1L1

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



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