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    DPY19L1 dpy-19 like C-mannosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 23333, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DPY19L1provided by HGNC
    Official Full Name
    dpy-19 like C-mannosyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:22205
    See related
    Ensembl:ENSG00000173852 MIM:613892; AllianceGenome:HGNC:22205
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable mannosyltransferase activity. Predicted to be involved in protein glycosylation. Located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 12.8), brain (RPKM 12.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DPY19L1 in Genome Data Viewer
    Location:
    7p14.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (34928881..35038041, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (35069558..35178714, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (34968493..35077653, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NPSR1 antisense RNA 1 Neighboring gene neuropeptide S receptor 1 Neighboring gene RNA, 7SL, cytoplasmic 132, pseudogene Neighboring gene non-SMC condensin I complex subunit D2 pseudogene 1 Neighboring gene uncharacterized LOC102724723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18092 Neighboring gene microRNA 548n Neighboring gene ReSE screen-validated silencer GRCh37_chr7:35043370-35043968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:35067143-35067843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18094 Neighboring gene uncharacterized LOC105375228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:35096856-35097593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:35097594-35098330 Neighboring gene DPY19L2 pseudogene 1 Neighboring gene S100A11 pseudogene 2 Neighboring gene VISTA enhancer hs466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:35288961-35289528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:35289529-35290094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:35292632-35293208 Neighboring gene T-box transcription factor 20

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Distinct C-mannosylation of netrin receptor thrombospondin type 1 repeats by mammalian DPY19L1 and DPY19L3. Shcherbakova A, et al. Proc Natl Acad Sci U S A, 2017 Mar 7. PMID 28202721, Free PMC Article
    2. Dpy19l1, a multi-transmembrane protein, regulates the radial migration of glutamatergic neurons in the developing cerebral cortex. Watanabe K, et al. Development, 2011 Nov. PMID 22028030, Free PMC Article
    3. 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. Nagase T, et al. DNA Res, 1998 Dec 31. PMID 10048485
    4. ISG15 Connects Autophagy and IFN-γ-Dependent Control of Toxoplasma gondii Infection in Human Cells. Bhushan J, et al. mBio, 2020 Oct 6. PMID 33024031, Free PMC Article
    5. Mitochondrial Raf1 Regulates Glutamine Catabolism. Shanderson RL, et al. bioRxiv, 2024 Mar 9. PMID 38496616, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr is identified to have a physical interaction with dpy-19-like 1 (DPY19L1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0877

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    protein C-mannosyl-transferase DPY19L1
    Names
    DPY-19-like protein 1
    probable C-mannosyltransferase DPY19L1
    protein dpy-19 homolog 1
    NP_001353602.1
    NP_056098.1
    XP_011513548.1
    XP_054213675.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001366673.1 → NP_001353602.1  protein C-mannosyl-transferase DPY19L1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC004711, AC004712, AC005271, AC005401
      Consensus CDS
      CCDS94084.1
      UniProtKB/TrEMBL
      A0A1B0GW05, A0A8I5KPK9
      Related
      ENSP00000490722.1, ENST00000638088.2
      Conserved Domains (1) summary
      pfam10034
      Location:102 → 744
      Dpy19; Q-cell neuroblast polarisation

    2. NM_015283.2 → NP_056098.1  protein C-mannosyl-transferase DPY19L1 isoform 2

      See identical proteins and their annotated locations for NP_056098.1

      Status: VALIDATED

      Source sequence(s)
      BC064476, DQ287932
      Consensus CDS
      CCDS43567.1
      UniProtKB/Swiss-Prot
      O94954, Q2PZI1, Q4G151
      UniProtKB/TrEMBL
      A0A8I5KPK9
      Related
      ENSP00000308695.4, ENST00000310974.8
      Conserved Domains (1) summary
      pfam10034
      Location:29 → 671
      Dpy19; Q-cell neuroblast polarization

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      34928881..35038041 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515246.4 → XP_011513548.1  protein C-mannosyl-transferase DPY19L1 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KPK9
      Conserved Domains (1) summary
      pfam10034
      Location:102 → 715
      Dpy19; Q-cell neuroblast polarization

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      35069558..35178714 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357700.1 → XP_054213675.1  protein C-mannosyl-transferase DPY19L1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2PZI1.1 GenPept UniProtKB/Swiss-Prot:Q2PZI1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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