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DPY19L1 Gene

protein-coding   GIFtS: 45
GCID: GC07M034935

Dpy-19-Like 1 (C. Elegans)

  Search for DPY19L1
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
Dpy-19-Like 1 (C. Elegans)1 2     Probable C-Mannosyltransferase DPY19L12
Dpy-19-Like Protein 12 3     EC 2.4.1.-3
Protein Dpy-19 Homolog 12 3     GA05003
KIAA08773 5     

External Ids:    HGNC: 222051   Entrez Gene: 233332   Ensembl: ENSG000001738527   OMIM: 6138925   UniProtKB: Q2PZI13   

Export aliases for DPY19L1 gene to outside databases

Previous GC identifer: GC07M034742


(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 DPY19L1 Gene:
DPY19L1 (dpy-19-like 1 (C. elegans)) is a protein-coding gene. GO annotations related to this gene include transferase activity, transferring glycosyl groups. An important paralog of this gene is DPY19L3.

UniProtKB/Swiss-Prot: D19L1_HUMAN, Q2PZI1
Function: Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins
(By similarity)




(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_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the DPY19L1 gene promoter:
         TBP   Pax-5   MyoD   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   AP-2gamma   E47   Hand1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for DPY19L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DPY19L1


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

Entrez Gene cytogenetic band: 7p14.3-p14.2   Ensembl cytogenetic band:  7p14.2   HGNC cytogenetic band: 7p14.3-p14.2

DPY19L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DPY19L1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M034935:  view genomic region     (about GC identifiers)

Start:
34,968,488 bp from pter      End:
35,077,883 bp from pter
Size:
109,396 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 35,013,501-35,122,613     

(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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: D19L1_HUMAN, Q2PZI1 (See protein sequence)
Recommended Name: Probable C-mannosyltransferase DPY19L1  
Size: 675 amino acids; 77319 Da
Miscellaneous: It has been suggested that DPY19L1 has a related pseudogene DPY19L1P1
Secondary accessions: O94954 Q4G151
Alternative splicing: 2 isoforms:  Q2PZI1-1   Q2PZI1-2   

Explore the universe of human proteins at neXtProt for DPY19L1: NX_Q2PZI1

Explore proteomics data for DPY19L1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DPY19L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056098.1  
    ENSEMBL proteins: 
     ENSP00000308695   ENSP00000412745   ENSP00000400510  

    DPY19L1 Human Recombinant Protein Products:

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    DPY19L1 Assay Products:

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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:
     IPR018732 Dpy-19

    Graphical View of Domain Structure for InterPro Entry Q2PZI1

    ProtoNet protein and cluster: Q2PZI1

    UniProtKB/Swiss-Prot: D19L1_HUMAN, Q2PZI1
    Similarity: Belongs to the dpy-19 family


    DPY19L1 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: D19L1_HUMAN, Q2PZI1
    Function: Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins
    (By similarity)

         Enzyme Number (IUBMB): EC 2.4.1.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016757transferase activity, transferring glycosyl groups IEA--
         
    DPY19L1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DPY19L1
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    miRNA
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    miRTarBase miRNAs that target DPY19L1:
    hsa-mir-1 (MIRT023961), hsa-mir-375 (MIRT019937), hsa-mir-30a-5p (MIRT005156), hsa-mir-26b-5p (MIRT029911)

    Block miRNA regulation of human, mouse, rat DPY19L1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DPY19L1 (see all 44):
    hsa-miR-579 hsa-miR-429 hsa-miR-139-5p hsa-miR-30d hsa-miR-570 hsa-miR-374c hsa-miR-548m hsa-miR-30a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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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
    D19L1_HUMAN, Q2PZI1: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    peroxisome2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    DPY19L1 for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DPY19L1
    Interactions:

        Search GeneGlobe Interaction Network for DPY19L1

    (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 DPY19L1 (D19L1)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DPY19L1 gene: 
    NM_015283.1  

    Unigene Cluster for DPY19L1:

    Dpy-19-like 1 (C. elegans)
    Hs.408623  [show with all ESTs]
    Unigene Representative Sequence: NM_015283
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310974(uc003tel.1 uc003tem.4) ENST00000428054 ENST00000446375
    ENST00000493989 ENST00000462134 ENST00000463538 ENST00000481923
    miRNA
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    Block miRNA regulation of human, mouse, rat DPY19L1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DPY19L1 (see all 44):
    hsa-miR-579 hsa-miR-429 hsa-miR-139-5p hsa-miR-30d hsa-miR-570 hsa-miR-374c hsa-miR-548m hsa-miR-30a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat DPY19L1

    Additional mRNA sequence: 

    AB020684.1 AJ011911.1 AJ011981.1 BC029591.1 BC050318.1 BC064476.1 DQ287932.1 

    8 DOTS entries:

    DT.445542  DT.100785881  DT.121099087  DT.95353654  DT.91726948  DT.209606  DT.100835046  DT.99929261 

    Selected AceView cDNA sequences (see all 201):

    AI051650 AA972808 AJ011911 AI092094 BU162114 BQ430772 AI359750 N32390 
    AA770028 AI474045 AI399864 AA232656 BQ888705 AI421216 BG181327 AB020684 
    AW016684 AI418973 AI359735 AA829277 AI421807 BM463001 AI358559 AI274468 

    GeneLoc Exon Structure


    (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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    DPY19L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAAATGAAA
    DPY19L1 Expression
    About this image

    DPY19L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DPY19L1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.408623

    UniProtKB/Swiss-Prot: D19L1_HUMAN, Q2PZI1
    Tissue specificity: Widely expressed

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DPY19L1

    (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.

    Orthologs for DPY19L1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dpy19l11 , 5 dpy-19-like 1 (C. elegans)1, 5 87.48(n)1
    92.89(a)1
      9 (10.15 cM)5
    2447451  NM_172920.41  NP_766508.31 
     244117765 
    chicken
    (Gallus gallus)
    Aves DPY19L11 dpy-19-like 1 (C. elegans) 75.9(n)
    76.01(a)
      420743  XM_004939536.1  XP_004939593.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    62(a)
    1 → many
    6(46177198-46229191)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.42072 Xenopus laevis transcribed sequence with weak similarity more 76.19(n)    BX843137.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dpy19l1l1 dpy-19-like 1, like (H. sapiens) 66.31(n)
    68.47(a)
      368327  NM_001002868.1  NP_001002868.1 
    worm
    (Caenorhabditis elegans)
    Secernentea dpy-191 dpy-19 53.35(n)
    44.57(a)
      191628  NM_066508.1  NP_498909.1 


    ENSEMBL Gene Tree for DPY19L1 (if available)
    TreeFam Gene Tree for DPY19L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DPY19L1 gene
    DPY19L32  DPY19L42  DPY19L22  
    4 SIMAP similar genes for DPY19L1 using alignment to 3 protein entries:     D19L1_HUMAN (see all proteins):
    DPY19L2P1    DPY19L2    DPY19L2P2    DPY19L3

    DPY19L1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for DPY19L1
    PGOHUM00000232640 PGOHUM00000233172 PGOHUM00000233173


    (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 DPY19L1 (see all 2190)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs667740791,2
    C--34881654(+) ATATT-/TATATAT 1 -- int11Minor allele frequency- TA:0.00NA 2
    rs594910291,2
    C,F--34968032(+) TGTCAT/CTGTGT 1 -- int12Minor allele frequency- C:0.09WA 120
    rs69524381,2
    C,F,A--34968047(+) AAATTA/GTACAG 1 -- int19Minor allele frequency- G:0.21NA CSA WA EA 505
    rs1810477581,2
    --34968159(+) ACCAAA/TGTATG 1 -- int10--------
    rs2017129071,2
    --34968256(+) AGGAT-/AAAAAAGG 1 -- int10--------
    rs1502645291,2
    --34968281(+) TCTACC/TACAAA 1 -- int10--------
    rs2000342341,2
    --34968339(+) AGACC-/AAAGAGT 1 -- int10--------
    rs1402132971,2
    --34968442(+) GAACTC/TGATCA 1 -- int10--------
    rs1166853801,2
    F--34968473(+) ATAACA/TATCAA 1 -- int11Minor allele frequency- T:0.01WA 118
    rs11278861,2
    C,F--34968498(-) ATGAGT/AAATGA 1 -- ut3112Minor allele frequency- A:0.41NA WA CSA EA 511

    HapMap Linkage Disequilibrium report for DPY19L1 (34968488 - 35077883 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for DPY19L1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1127e201CNV Deletion23290073
    nsv436907CNV Insertion17901297
    esv23431CNV Loss19812545
    dgv7249n71CNV Loss21882294
    nsv830952CNV Gain17160897
    nsv830953CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613892    OMIM disorders: --


    DPY19L1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DPY19L1

    Export disorders for DPY19L1 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 DPY19L1 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with DPY19L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T.... Ohara O. (DNA Res. 1998)
    2. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    3. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 JAoger S....Krogan N.J. (Nature 2012)
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    6. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (BMC Med. Genet. 2007)
    7. Duplication and relocation of the functional DPY19L2 gene within low copy repeats. (PubMed id 16526957)2 Carson A.R.... Scherer S.W. (BMC Genomics 2006)
    8. 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)
    9. 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)
    10. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 23333 HGNC: 22205 AceView: KIAA0877 Ensembl:ENSG00000173852 euGenes: HUgn23333
    ECgene: DPY19L1 H-InvDB: DPY19L1

    (According to HUGE)
    About This Section

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    HUGE: KIAA0877

    (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 DPY19L1 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 DPY19L1 gene:
    Search GeneIP for patents involving DPY19L1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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