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

Summary

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

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Glycan dependent refolding activity of ER glucosyltransferase (UGGT).
Title: Glycan dependent refolding activity of ER glucosyltransferase (UGGT).
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.
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.
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.
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.
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)

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

D11S2921 (e-PCR)
- UniSTS:152074

D2S1298 (e-PCR)
- UniSTS:15633

GDB:434012 (e-PCR)
- UniSTS:157204

D10S275 (e-PCR)
- UniSTS:147992

D8S2279 (e-PCR)
- UniSTS:473907

UGCGL1 (e-PCR)
- UniSTS:513861

RH48723 (e-PCR)
- UniSTS:64347

D2S1814 (e-PCR)
- UniSTS:36958

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

G35510 (e-PCR)
- UniSTS:44150

WI-12634 (e-PCR)
- UniSTS:19319

WI-18004 (e-PCR)
- UniSTS:18564

D13S1553 (e-PCR)
- UniSTS:473482

D11S3114 (e-PCR)
- UniSTS:152207

RH92594 (e-PCR)
- UniSTS:85650

RH92738 (e-PCR)
- UniSTS:86422

SHGC-81099 (e-PCR)
- UniSTS:103326

L17971 (e-PCR)
- UniSTS:43966

RH103664 (e-PCR)
- UniSTS:97989

SHGC-16167 (e-PCR)
- UniSTS:28875

G59493 (e-PCR)
- UniSTS:136657

GDB:631802 (e-PCR)
- UniSTS:158429

G59775 (e-PCR)
- UniSTS:136928

D2S2609 (e-PCR)
- UniSTS:4586

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 more info	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)

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

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

128091200..128195677

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_047445121.1 → XP_047301077.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X4
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
XM_047445122.1 → XP_047301078.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X5
XM_047445123.1 → XP_047301079.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X6
XM_047445124.1 → XP_047301080.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X7
XM_047445125.1 → XP_047301081.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X8
XM_017004509.2 → XP_016859998.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X9
XM_017004510.2 → XP_016859999.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X10

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

128527394..128631631

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054343041.1 → XP_054199016.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X3
XM_054343039.1 → XP_054199014.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X1
XM_054343042.1 → XP_054199017.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X4
XM_054343043.1 → XP_054199018.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X5
XM_054343045.1 → XP_054199020.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X7
XM_054343040.1 → XP_054199015.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X2
XM_054343044.1 → XP_054199019.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X6
XM_054343046.1 → XP_054199021.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X8
XM_054343047.1 → XP_054199022.1 UDP-glucose:glycoprotein glucosyltransferase 1 isoform X9
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

NM_001025777.1: Suppressed sequence

Description

NM_001025777.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.