Gene Gene information from NCBI Gene database.
Entrez ID 56886
Gene name UDP-glucose glycoprotein glucosyltransferase 1
Gene symbol UGGT1
Synonyms (NCBI Gene)
HUGT1UGCGL1UGT1
Chromosome 2
Chromosome location 2q14.3
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 200
miRNA miRNA information provided by mirtarbase database.
1533
miRTarBase ID miRNA Experiments Reference
MIRT018913 hsa-miR-335-5p Microarray 18185580
MIRT024006 hsa-miR-1-3p Proteomics 18668040
MIRT031020 hsa-miR-21-5p Microarray 18591254
MIRT051507 hsa-let-7e-5p CLASH 23622248
MIRT040381 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0003980 Function UDP-glucose:glycoprotein glucosyltransferase activity IBA
GO:0003980 Function UDP-glucose:glycoprotein glucosyltransferase activity IDA 10694380
GO:0003980 Function UDP-glucose:glycoprotein glucosyltransferase activity IEA
GO:0003980 Function UDP-glucose:glycoprotein glucosyltransferase activity TAS
GO:0005515 Function Protein binding IPI 23349634, 26808496
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605897 15663 ENSG00000136731
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NYU2
Protein name UDP-glucose:glycoprotein glucosyltransferase 1 (UGT1) (hUGT1) (EC 2.4.1.-) (UDP--Glc:glycoprotein glucosyltransferase) (UDP-glucose ceramide glucosyltransferase-like 1)
Protein function Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18400 Thioredoxin_12 57 238 Thioredoxin-like domain Domain
PF18401 Thioredoxin_13 310 450 Thioredoxin-like domain Domain
PF18402 Thioredoxin_14 451 699 Thioredoxin-like domain Domain
PF18403 Thioredoxin_15 722 955 Thioredoxin-like domain Domain
PF06427 UDP-g_GGTase 1115 1222 UDP-glucose:Glycoprotein Glucosyltransferase Domain
PF18404 Glyco_transf_24 1256 1523 Glucosyltransferase 24 Domain
Tissue specificity TISSUE SPECIFICITY: Higher levels in pancreas, skeletal muscle, kidney, and brain. Low levels in lung and heart. {ECO:0000269|PubMed:10694380}.
Sequence
MGCKGDASGACAAGALPVTGVCYKMGVLVVLTVLWLFSSVKADSKAITTSLTTKWFSTPL
LLEASEFLAEDSQEKFWNFVEASQNIGSSDHDGTDYSYYHAILEAAFQFLSPLQQNLFKF
CLSLRSYSATIQAFQQIAADEPPPEGCNSFFSVHGKKTCESDTLEALLLTASERPKPLLF
KGDHRYPSSNPESPVVIFYSEIGSEEFSNFHRQLISKSNAGKINYVFRHYIFNPRKEP
VY
LSGYGVELAIKSTEYKAKDDTQVKGTEVNTTVIGENDPIDEVQGFLFGKLRDLHPDLEGQ
LKELRKHLVESTNEMAPLKVWQLQDLSFQTAARILASPVELALVVMKDLSQNFPTKARAI
TKTAVSSELRTEVEENQKYFKGTLGLQPGDSALFINGLHMDLDTQDIFSLFDVLRNEARV
MEGLHRLGIEGLSLHNVLKLNIQPSEADYA
VDIRSPAISWVNNLEVDSRYNSWPSSLQEL
LRPTFPGVIRQIRKNLHNMVFIVDPAHETTAELMNTAEMFLSNHIPLRIGFIFVVNDSED
VDGMQDAGVAVLRAYNYVAQEVDDYHAFQTLTHIYNKVRTGEKVKVEHVVSVLEKKYPYV
EVNSILGIDSAYDRNRKEARGYYEQTGVGPLPVVLFNGMPFEREQLDPDELETITMHKIL
ETTTFFQRAVYLGELPHDQDVVEYIMNQPNVVPRINSRI
LTAERDYLDLTASNNFFVDDY
ARFTILDSQGKTAAVANSMNYLTKKGMSSKEIYDDSFIRPVTFWIVGDFDSPSGRQLLYD
AIKHQKSSNNVRISMINNPAKEISYENTQISRAIWAALQTQTSNAAKNFITKMAKEGAAE
ALAAGADIAEFSVGGMDFSLFKEVFESSKMDFILSHAVYCRDVLKLKKGQRAVISNGRII
GPLEDSELFNQDDFHLLENIILKTSGQKIKSHIQQLRVEEDVASDLVMKVDALLS
AQPKG
DPRIEYQFFEDRHSAIKLRPKEGETYFDVVAVVDPVTREAQRLAPLLLVLAQLINMNLRV
FMNCQSKLSDMPLKSFYRYVLEPEISFTSDNSFAKGPIAKFLDMPQSPLFTLNLNTPESW
MVESVRTPYDLDNIYLEEVDSVVAAEYELEYLLLEGHCYDITTGQPPRGLQFTLGTSANP
VIVDTIVMANLGYFQLKANPGAWILRLRKGRSEDIYRIYSHDGTDSPPDADEVVIVLNNF
KSKIIKVKVQKKADMVNEDLLS
DGTSENESGFWDSFKWGFTGQKTEEVKQDKDDIINIFS
VASGHLYERFLRIMMLSVLKNTKTPVKFWFLKNYLSPTFKEFIPYMANEYNFQYELVQYK
WPRWLHQQTEKQRIIWGYKILFLDVLFPLVVDKFLFVDADQIVRTDLKELRDFNLDGAPY
GYTPFCDSRREMDGYRFWKSGYWASHLAGRKYHISALYVVDLKKFRKIAAGDRLRGQYQG
LSQDPNSLSNLDQDLPNNMIHQVPIKSLPQEWLWCETWCDDASKKRAKTIDLCNNPMTKE
PKLEAAVRIVPEWQDYDQEIKQL
QIRFQKEKETGALYKEKTKEPSREGPQKREEL
Sequence length 1555
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum   ER Quality Control Compartment (ERQC)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISORDER OF PROTEIN N-GLYCOSYLATION Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
alpha 1-Antitrypsin Deficiency Alpha 1-Antitrypsin Deficiency BEFREE 23864712
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 35766008 Associate
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 12850481
★☆☆☆☆
Found in Text Mining only
beta Thalassemia beta Thalassemia BEFREE 19021734
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40507918, 40707677 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 27690298
★☆☆☆☆
Found in Text Mining only
Cholecystolithiasis Cholecystolithiasis BEFREE 11425418, 11843828, 14555305
★☆☆☆☆
Found in Text Mining only
Cholelithiasis Cholelithiasis BEFREE 11425418, 11843828, 14555305, 19021734
★☆☆☆☆
Found in Text Mining only
Congenital Disorders of Glycosylation Congenital disorder of glycosylation Pubtator 40267907 Associate
★☆☆☆☆
Found in Text Mining only
Crigler Najjar syndrome, type 1 Crigler-Najjar syndrome BEFREE 11013440, 12378576, 18180294, 19845429, 7906695, 7989045, 9039987, 9435989
★☆☆☆☆
Found in Text Mining only