NTHL1 (nth like DNA glycosylase 1)

2003-12-01  

Identity

HGNC
NTHL1
LOCATION
16p13.3
LOCUSID
4913
ALIAS
FAP3,NTH1,OCTS3,hNTH1

Other Information

Locus ID:

NCBI: 4913
MIM: 602656
HGNC: 8028
Ensembl: ENSG00000065057

Variants:

dbSNP: 4913
ClinVar: 4913
TCGA: ENSG00000065057
COSMIC: NTHL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000065057ENST00000219066P78549
ENSG00000065057ENST00000219066E5KTI5
ENSG00000065057ENST00000561841H3BRL9
ENSG00000065057ENST00000566380H3BPD5
ENSG00000065057ENST00000568513H3BUV2
ENSG00000065057ENST00000651522A0A494BZZ6
ENSG00000065057ENST00000651583A0A494C106

Expression (GTEx)

0
5
10
15
20
25
30
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

PathwaySourceExternal ID
Base excision repairKEGGko03410
Base excision repairKEGGhsa03410
DNA RepairREACTOMER-HSA-73894
Base Excision RepairREACTOMER-HSA-73884
Base-Excision Repair, AP Site FormationREACTOMER-HSA-73929
DepyrimidinationREACTOMER-HSA-73928
Recognition and association of DNA glycosylase with site containing an affected pyrimidineREACTOMER-HSA-110328
Cleavage of the damaged pyrimidineREACTOMER-HSA-110329
Resolution of Abasic Sites (AP sites)REACTOMER-HSA-73933
Displacement of DNA glycosylase by APEX1REACTOMER-HSA-110357

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
384835102024Enhanced Sampling for Conformational Changes and Molecular Mechanisms of Human NTHL1.0
384835102024Enhanced Sampling for Conformational Changes and Molecular Mechanisms of Human NTHL1.0
365813422023Concurrent Reduced Expression of Contiguous PKD1, TSC2 and NTHL1 Leading to Kidney Diseases and Multiple Diverse Renal Cancers.1
380365452023NTHL1 is a recessive cancer susceptibility gene.0
365813422023Concurrent Reduced Expression of Contiguous PKD1, TSC2 and NTHL1 Leading to Kidney Diseases and Multiple Diverse Renal Cancers.1
380365452023NTHL1 is a recessive cancer susceptibility gene.0
362791162022Human endonuclease III/NTH1: focusing on the [4Fe-4S] cluster and the N-terminal domain.0
362791162022Human endonuclease III/NTH1: focusing on the [4Fe-4S] cluster and the N-terminal domain.0
334549552021Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.5
342503842021Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population.7
348714332021Caught in motion: human NTHL1 undergoes interdomain rearrangement necessary for catalysis.6
334549552021Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.5
342503842021Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population.7
348714332021Caught in motion: human NTHL1 undergoes interdomain rearrangement necessary for catalysis.6
321093322020An Excimer Clamp for Measuring Damaged-Base Excision by the DNA Repair Enzyme NTH1.4

Citation

Dessen P

NTHL1 (nth like DNA glycosylase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41587/nthl1-(nth-like-dna-glycosylase-1)