Gene Gene information from NCBI Gene database.
Entrez ID 23583
Gene name Single-strand-selective monofunctional uracil-DNA glycosylase 1
Gene symbol SMUG1
Synonyms (NCBI Gene)
FDGHMUDGUNG3
Chromosome 12
Chromosome location 12q13.13
Summary This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the
miRNA miRNA information provided by mirtarbase database.
298
miRTarBase ID miRNA Experiments Reference
MIRT027837 hsa-miR-98-5p Microarray 19088304
MIRT044695 hsa-miR-320a CLASH 23622248
MIRT044695 hsa-miR-320a CLASH 23622248
MIRT039050 hsa-miR-766-3p CLASH 23622248
MIRT653299 hsa-miR-451b HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
NFIC Activation 14642566
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000703 Function Oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity IBA
GO:0001650 Component Fibrillar center IDA
GO:0003677 Function DNA binding IEA
GO:0004844 Function Uracil DNA N-glycosylase activity IBA
GO:0004844 Function Uracil DNA N-glycosylase activity IDA 12718543
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607753 17148 ENSG00000123415
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53HV7
Protein name Single-strand selective monofunctional uracil DNA glycosylase (EC 3.2.2.-)
Protein function Recognizes base lesions in the genome and initiates base excision DNA repair. Acts as a monofunctional DNA glycosylase specific for uracil (U) residues in DNA with a preference for single-stranded DNA substrates. The activity is greater toward m
Family and domains
Sequence
MPQAFLLGSIHEPAGALMEPQPCPGSLAESFLEEELRLNAELSQLQFSEPVGIIYNPVEY
AWEPHRNYVTRYCQGPKEVLFLGMNPGPFGMAQTGVPFGEVSMVRDWLGIVGPVLTPPQE
HPKRPVLGLECPQSEVSGARFWGFFRNLCGQPEVFFHHCFVHNLCPLLFLAPSGRNLTPA
ELPAKQREQLLGICDAALCRQVQLLGVRLVVGVGRLAEQRARRALAGLMPEVQVEGLLHP
SPRNPQANKGWEAVAKERLNELGLLPLLLK
Sequence length 270
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Base excision repair   Recognition and association of DNA glycosylase with site containing an affected pyrimidine
Cleavage of the damaged pyrimidine
Displacement of DNA glycosylase by APEX1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance 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
ACTH Syndrome, Ectopic Ectopic ACTH secretion syndrome BEFREE 30973841
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 30537083, 31426749
★☆☆☆☆
Found in Text Mining only
Acute intermittent porphyria Intermittent Porphyria BEFREE 29061130
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 31367253
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 29293135, 30004938
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 29356746
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 27819858, 28423576, 28677069, 29125557, 29332233, 29480927, 29564671, 29656743, 30051884, 30733967, 30762824, 31162267, 31473660, 31652158, 31714278
View all (1 more)
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 27511188, 28522744, 29561521, 31823231, 31833929
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28650890, 28677069, 29261620, 29781772, 29922931, 30106864, 30324426, 30733967, 30776196, 30789397, 31021913, 31021916, 31300363, 31355526, 31380265
View all (2 more)
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 28098664, 28712692, 30629646, 31162267, 31402332
★☆☆☆☆
Found in Text Mining only