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    ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase [ Homo sapiens (human) ]

    Gene ID: 29880, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ALG5provided by HGNC
    Official Full Name
    ALG5 dolichyl-phosphate beta-glucosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:20266
    See related
    Ensembl:ENSG00000120697 MIM:604565; AllianceGenome:HGNC:20266
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PKD7; bA421P11.2
    Summary
    This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 27.6), colon (RPKM 17.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ALG5 in Genome Data Viewer
    Location:
    13q13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (36949738..36999367, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (36168907..36218563, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (37523875..37573504, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:37500289-37500790 Neighboring gene ribosomal protein L29 pseudogene 28 Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7594 Neighboring gene exosome component 8 Neighboring gene SPT20 homolog, SAGA complex component Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5271 Neighboring gene casein kinase 1 alpha 1 like

    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
    • 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. Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis. Lemoine H, et al. Am J Hum Genet, 2022 Aug 4. PMID 35896117, Free PMC Article
    2. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. Imbach T, et al. Proc Natl Acad Sci U S A, 1999 Jun 8. PMID 10359825, Free PMC Article
    3. Polycystic Kidney Disease, Autosomal Dominant. Adam MP, et al. , 1993. PMID 20301424
    4. Transmembrane insertases and N-glycosylation critically determine synthesis, trafficking, and activity of the nonselective cation channel TRPC6. Talbot BE, et al. J Biol Chem, 2019 Aug 23. PMID 31266804, Free PMC Article
    5. Proteomic Analysis Reveals a Role for RSK in p120-catenin Phosphorylation and Melanoma Cell-Cell Adhesion. Méant A, et al. Mol Cell Proteomics, 2020 Jan. PMID 31678930, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
      Title: Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Polycystic kidney disease 7
    MedGen: C5774222 OMIM: 620056 GeneReviews: Polycystic Kidney Disease, Autosomal Dominant
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dolichyl-phosphate beta-glucosyltransferase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables dolichyl-phosphate beta-glucosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dolichol-linked oligosaccharide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein N-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein N-linked glycosylation via asparagine TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasmic side of rough endoplasmic reticulum membrane IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    dolichyl-phosphate beta-glucosyltransferase
    Names
    Alg5, S. cerevisiae, homolog of
    asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase)
    asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)
    asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog
    asparagine-linked glycosylation protein 5 homolog
    dolP-glucosyltransferase
    dolichyl phosphate glucosyltransferase
    NP_001135836.1
    NP_037470.1
    XP_047286239.1
    XP_054230459.1

    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_001142364.1 → NP_001135836.1  dolichyl-phosphate beta-glucosyltransferase isoform 2

      See identical proteins and their annotated locations for NP_001135836.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter than isoform 1.
      Source sequence(s)
      AK299085, BP246765, BU739112
      Consensus CDS
      CCDS45033.1
      UniProtKB/TrEMBL
      Q9HC03
      Related
      ENSP00000390533.1, ENST00000443765.6
      Conserved Domains (1) summary
      cd04188
      Location:69 → 259
      DPG_synthase; DPG_synthase is involved in protein N-linked glycosylation

    2. NM_013338.5 → NP_037470.1  dolichyl-phosphate beta-glucosyltransferase isoform 1

      See identical proteins and their annotated locations for NP_037470.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL138706, BC012531, BP246765, BU739112
      Consensus CDS
      CCDS9361.1
      UniProtKB/Swiss-Prot
      B4DR37, Q5TBA6, Q9Y673
      UniProtKB/TrEMBL
      Q9HC03
      Related
      ENSP00000239891.3, ENST00000239891.4
      Conserved Domains (1) summary
      cd04188
      Location:69 → 289
      DPG_synthase; DPG_synthase is involved in protein N-linked glycosylation

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      36949738..36999367 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430283.1 → XP_047286239.1  dolichyl-phosphate beta-glucosyltransferase isoform X1

      UniProtKB/TrEMBL
      A0A7P0T8X9
      Related
      ENSP00000505408.1, ENST00000679673.1

    RNA

    1. XR_007063678.1 RNA Sequence

      Related
      ENST00000681581.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      36168907..36218563 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374484.1 → XP_054230459.1  dolichyl-phosphate beta-glucosyltransferase isoform X1

      UniProtKB/TrEMBL
      A0A7P0T8X9

    RNA

    1. XR_008488758.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y673.1 GenPept UniProtKB/Swiss-Prot:Q9Y673

    Gene LinkOut

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

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