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

Gene ID: 56886, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (128091200..128195677)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (128527394..128631631)
105.20220307 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
  • 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. Glycan dependent refolding activity of ER glucosyltransferase (UGGT). Wang N, et al. Biochim Biophys Acta Gen Subj, 2020 Dec. PMID 32858085
  2. 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
  3. 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
  4. 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
  5. The ER folding sensor UGGT1 acts on TAPBPR-chaperoned peptide-free MHC I. Sagert L, et al. Elife, 2023 Jun 22. PMID 37345806, Free PMC Article

See all (117) 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 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-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_2023_10

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

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