SMUG1 (single-strand-selective monofunctional uracil-DNA glycosylase 1)

2003-12-01 Affiliation

Identity

HGNC

SMUG1

LOCATION

12q13.13

LOCUSID

23583

ALIAS

FDG,HMUDG,UNG3

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 23583
MIM: 607753
HGNC: 17148
Ensembl: ENSG00000123415

Variants:

dbSNP: 23583
ClinVar: 23583
TCGA: ENSG00000123415
COSMIC: SMUG1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000123415	ENST00000243112	Q53HV7
ENSG00000123415	ENST00000243112	A0A0S2Z526
ENSG00000123415	ENST00000337581	Q53HV7
ENSG00000123415	ENST00000337581	A0A024RAZ8
ENSG00000123415	ENST00000401977	Q53HV7
ENSG00000123415	ENST00000401977	A0A024RAZ8
ENSG00000123415	ENST00000503306	D6RD88
ENSG00000123415	ENST00000504338	D6RA78
ENSG00000123415	ENST00000504797	D6RAS0
ENSG00000123415	ENST00000505128	D6RAI1
ENSG00000123415	ENST00000506169	D6RIA4
ENSG00000123415	ENST00000506595	Q53HV7
ENSG00000123415	ENST00000506595	A0A0S2Z526
ENSG00000123415	ENST00000507904	D6RA25
ENSG00000123415	ENST00000508394	Q53HV7
ENSG00000123415	ENST00000508394	A0A024RAZ8
ENSG00000123415	ENST00000509864	H0YA95
ENSG00000123415	ENST00000513838	Q53HV7
ENSG00000123415	ENST00000513838	A0A0S2Z526
ENSG00000123415	ENST00000514196	D6RI04
ENSG00000123415	ENST00000514685	Q53HV7
ENSG00000123415	ENST00000514685	A0A0S2Z526
ENSG00000123415	ENST00000635546	A0A0U1RRE6

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Base excision repair	KEGG	ko03410
Base excision repair	KEGG	hsa03410
DNA Repair	REACTOME	R-HSA-73894
Base Excision Repair	REACTOME	R-HSA-73884
Base-Excision Repair, AP Site Formation	REACTOME	R-HSA-73929
Depyrimidination	REACTOME	R-HSA-73928
Recognition and association of DNA glycosylase with site containing an affected pyrimidine	REACTOME	R-HSA-110328
Cleavage of the damaged pyrimidine	REACTOME	R-HSA-110329
Resolution of Abasic Sites (AP sites)	REACTOME	R-HSA-73933
Displacement of DNA glycosylase by APEX1	REACTOME	R-HSA-110357

References

Pubmed ID	Year	Title	Citations
12161446	2002	hUNG2 is the major repair enzyme for removal of uracil from U:A matches, U:G mismatches, and U in single-stranded DNA, with hSMUG1 as a broad specificity backup.	109
12820976	2003	Structure and specificity of the vertebrate anti-mutator uracil-DNA glycosylase SMUG1.	53
16407970	2006	SMUG1 is able to excise uracil from immunoglobulin genes: insight into mutation versus repair.	42
12718543	2003	Mammalian 5-formyluracil-DNA glycosylase. 2. Role of SMUG1 uracil-DNA glycosylase in repair of 5-formyluracil and other oxidized and deaminated base lesions.	39
17537817	2007	Uracil-DNA glycosylases SMUG1 and UNG2 coordinate the initial steps of base excision repair by distinct mechanisms.	36
17029639	2006	Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.	25
18270339	2008	Comprehensive analysis of DNA repair gene variants and risk of meningioma.	22
15466595	2004	Mutational analysis of the damage-recognition and catalytic mechanism of human SMUG1 DNA glycosylase.	21
23246433	2013	The human base excision repair enzyme SMUG1 directly interacts with DKC1 and contributes to RNA quality control.	21
19324873	2009	Mechanisms of base selection by human single-stranded selective monofunctional uracil-DNA glycosylase.	19

Citation

Dessen P

SMUG1 (single-strand-selective monofunctional uracil-DNA glycosylase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/42341/smug1