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    UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 56886, updated on 28-Oct-2024

    Summary

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    Official Symbol
    UGGT1provided by HGNC
    Official Full Name
    UDP-glucose glycoprotein glucosyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:15663
    See related
    Ensembl:ENSG00000136731 MIM:605897; AllianceGenome:HGNC:15663
    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
    Also known as
    UGT1; HUGT1; UGCGL1
    Summary
    UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.1), colon (RPKM 6.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UGGT1 in Genome Data Viewer
    Location:
    2q14.3
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (128091200..128195677)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (128527394..128631631)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (128848774..128953251)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene archaelysin family metallopeptidase 2 pseudogene Neighboring gene Sin3A associated protein 130 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:128743539-128744039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16509 Neighboring gene SRM pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 10373 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:128944162-128945361 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:128960126-128960359 Neighboring gene dynein light chain Tctex-type 3 pseudogene 2 Neighboring gene RPL14 pseudogene 6

    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. Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells. Tax G, et al. Traffic, 2024 Jan. PMID 38272446,
    2. Glycan dependent refolding activity of ER glucosyltransferase (UGGT). Wang N, et al. Biochim Biophys Acta Gen Subj, 2020 Dec. PMID 32858085
    3. Identification of HUGT1 as a potential BiP activator and a cellular target for improvement of recombinant protein production using a cDNA screening system. Ku SC, et al. Mol Cells, 2009 May 31. PMID 19466607
    4. The relationship between glycan structures and expression levels of an endoplasmic reticulum-resident glycoprotein, UDP-glucose: Glycoprotein glucosyltransferase 1. Daikoku S, et al. Biochem Biophys Res Commun, 2015 Jun 19. PMID 25935482
    5. Profiling Aglycon-Recognizing Sites of UDP-glucose:glycoprotein Glucosyltransferase by Means of Squarate-Mediated Labeling. Ohara K, et al. Biochemistry, 2015 Aug 11. PMID 26196150

    See all (135) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells.
      Title: Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells.
    2. The ER folding sensor UGGT1 acts on TAPBPR-chaperoned peptide-free MHC I.
      Title: The ER folding sensor UGGT1 acts on TAPBPR-chaperoned peptide-free MHC I.
    3. Polypeptide N-acetylgalactosaminyltransferase 18 retains in endoplasmic reticulum depending on its luminal regions interacting with ER resident UGGT1, PLOD3 and LPCAT1.
      Title: Polypeptide N-acetylgalactosaminyltransferase 18 retains in endoplasmic reticulum depending on its luminal regions interacting with ER resident UGGT1, PLOD3 and LPCAT1.
    4. Quantitative glycoproteomics reveals cellular substrate selectivity of the ER protein quality control sensors UGGT1 and UGGT2.
      Title: Quantitative glycoproteomics reveals cellular substrate selectivity of the ER protein quality control sensors UGGT1 and UGGT2.
    5. Glycan dependent refolding activity of ER glucosyltransferase (UGGT).
      Title: Glycan dependent refolding activity of ER glucosyltransferase (UGGT).
    6. The authors identify an interaction between TAPBPR and UDP-glucose:glycoprotein glucosyltransferase 1 (UGT1), a folding sensor in the calnexin/calreticulin quality control cycle that is known to regenerate the Glc1Man9GlcNAc2 moiety on glycoproteins. The results suggest the formation of a multimeric complex, dependent on a conserved cysteine at position 94 in TAPBPR, in which TAPBPR promotes the association of UGT1 with p
      Title: TAPBPR bridges UDP-glucose:glycoprotein glucosyltransferase 1 onto MHC class I to provide quality control in the antigen presentation pathway.
    7. In this study, we aimed to clarify the contribution of the noncatalytic domains by comparing activities of truncated forms of recombinant HUGT1/HUGT2 and HUGT1/HUGT2 chimeras with full-length enzymes.
      Title: Effects of domain composition on catalytic activity of human UDP-glucose:glycoprotein glucosyltransferases.
    8. both vIL-6 and VKORC1v2 interact with calnexin cycle proteins UDP-glucose:glycoprotein glucosyltransferase 1 (UGGT1), which catalyzes monoglucosylation of N-glycans, and oppositely acting glucosidase II (GlucII), and that vIL-6 can promote protein folding.
      Title: Human Herpesvirus 8 Interleukin-6 Interacts with Calnexin Cycle Components and Promotes Protein Folding.
    9. These findings provide important insight on the role of unfolded protein response (UPR) and host UGGT1 in regulating RNA virus replication and pathogenicity.
      Title: UGGT1 enhances enterovirus 71 pathogenicity by promoting viral RNA synthesis and viral replication.
    10. The results demonstrated that FAM5C is an N-glycosylated protein, and N-glycosylation by UGGT1 is necessary for the secretion of FAM5C.
      Title: Interaction of FAM5C with UDP-glucose:glycoprotein glucosyltransferase 1 (UGGT1): Implication of N-glycosylation in FAM5C secretion.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    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
    Envelope surface glycoprotein gp160, precursor env HIV-1 Env is identified to have a physical interaction with UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1) 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

    • FLJ21763, FLJ23671, FLJ23796

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-glucose:glycoprotein glucosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-glucose:glycoprotein glucosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables UDP-glucose:glycoprotein glucosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables unfolded protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 'de novo' post-translational protein folding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in UDP-glucosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endoplasmic reticulum mannose trimming TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein N-linked glycosylation via asparagine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum quality control compartment IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    UDP-glucose:glycoprotein glucosyltransferase 1
    Names
    UDP--Glc:glycoprotein glucosyltransferase
    UDP-glucose ceramide glucosyltransferase-like 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_020120.4 → NP_064505.1  UDP-glucose:glycoprotein glucosyltransferase 1 precursor

      See identical proteins and their annotated locations for NP_064505.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the functional protein.
      Source sequence(s)
      AC017079, AC108059, AF227905, AK025416, BC041098, DB226703
      Consensus CDS
      CCDS2154.1
      UniProtKB/Swiss-Prot
      Q53QP2, Q53SL3, Q8IW30, Q9H8I4, Q9NYU2
      UniProtKB/TrEMBL
      A8KAK1
      Related
      ENSP00000259253.6, ENST00000259253.11
      Conserved Domains (2) summary
      cd06432
      Location:1256 → 1503
      GT8_HUGT1_C_like; The C-terminal domain of HUGT1-like is highly homologous to the GT 8 family
      pfam06427
      Location:45 → 1202
      UDP-g_GGTase; UDP-glucose:Glycoprotein Glucosyltransferase

    RNA

    1. NR_027671.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, would render this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC017079, AC108059, AK025416, AK293066

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      128091200..128195677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712635.5 → XP_006712698.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X2

      UniProtKB/TrEMBL
      A8KAK1
      Conserved Domains (2) summary
      cd06432
      Location:1248 → 1495
      GT8_HUGT1_C_like; The C-terminal domain of HUGT1-like is highly homologous to the GT 8 family
      pfam06427
      Location:45 → 1194
      UDP-g_GGTase; UDP-glucose:Glycoprotein Glucosyltransferase

    2. XM_006712634.4 → XP_006712697.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X1

      UniProtKB/TrEMBL
      A8KAK1
      Conserved Domains (2) summary
      cd06432
      Location:1250 → 1497
      GT8_HUGT1_C_like; The C-terminal domain of HUGT1-like is highly homologous to the GT 8 family
      pfam06427
      Location:39 → 1196
      UDP-g_GGTase; UDP-glucose:Glycoprotein Glucosyltransferase

    3. XM_047445121.1 → XP_047301077.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X4

    4. XM_006712636.4 → XP_006712699.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X3

      UniProtKB/TrEMBL
      A8KAK1
      Conserved Domains (2) summary
      cd06432
      Location:1245 → 1492
      GT8_HUGT1_C_like; The C-terminal domain of HUGT1-like is highly homologous to the GT 8 family
      pfam06427
      Location:34 → 1191
      UDP-g_GGTase; UDP-glucose:Glycoprotein Glucosyltransferase

    5. XM_047445122.1 → XP_047301078.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X5

    6. XM_047445123.1 → XP_047301079.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X6

    7. XM_047445124.1 → XP_047301080.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X7

    8. XM_047445125.1 → XP_047301081.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X8

    9. XM_017004509.2 → XP_016859998.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X9

    10. XM_017004510.2 → XP_016859999.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      128527394..128631631
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343041.1 → XP_054199016.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X3

    2. XM_054343039.1 → XP_054199014.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X1

    3. XM_054343042.1 → XP_054199017.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X4

    4. XM_054343043.1 → XP_054199018.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X5

    5. XM_054343045.1 → XP_054199020.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X7

    6. XM_054343040.1 → XP_054199015.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X2

    7. XM_054343044.1 → XP_054199019.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X6

    8. XM_054343046.1 → XP_054199021.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X8

    9. XM_054343047.1 → XP_054199022.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X9

    10. XM_054343048.1 → XP_054199023.1  UDP-glucose:glycoprotein glucosyltransferase 1 isoform X10

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001025777.1: Suppressed sequence

      Description
      NM_001025777.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NYU2.3 GenPept UniProtKB/Swiss-Prot:Q9NYU2

    Gene LinkOut

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

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