Endonuclease III-like protein 1 is an
enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...
that in humans is encoded by the ''NTHL1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
As reviewed by Li et al.,
NTHL1 is a bifunctional DNA glycosylase that has an associated
beta-elimination activity. NTHL1 is usually involved in removing oxidative pyrimidine lesions through
base excision repair
Base excision repair (BER) is a cellular mechanism, studied in the fields of biochemistry and genetics, that repairs damaged DNA throughout the cell cycle. It is responsible primarily for removing small, non-helix-distorting base lesions from t ...
. NTHL1 catalyses the first step in base excision repair. It cleaves the N-glycosylic bond between the damaged base and its associated sugar residue and then cleaves the phosphodiester bond 3' to the AP site,
leaving a 3'-unsaturated aldehyde after beta-elimination and a 5'-phosphate at the termini of the repair gap.
Low expression of NTHL1 is associated with initiation and development of
astrocytoma
Astrocytoma is a type of brain tumor. Astrocytomas (also astrocytomata) originate from a specific kind of star-shaped glial cell in the cerebrum called an astrocyte. This type of tumor does not usually spread outside the brain and spinal cord, an ...
.
Low expression of NTHL1 is also found in follicular thyroid tumors.
A germ line homozygous mutation in ''NTHL1'' causes a cancer susceptibility syndrome similar to
Lynch syndrome
Hereditary nonpolyposis colorectal cancer (HNPCC) is a hereditary predisposition to colon cancer.
HNPCC includes (and was once synonymous with) Lynch syndrome, an autosomal dominant genetic condition that is associated with a high risk of colon ...
.
See also
*
OGG1
8-Oxoguanine glycosylase, also known as OGG1, is a DNA glycosylase enzyme that, in humans, is encoded by the ''OGG1'' gene. It is involved in base excision repair. It is found in bacterial, archaeal and eukaryotic species.
Function
OGG1 is th ...
*
NEIL1
Endonuclease VIII-like 1 is an enzyme that in humans is encoded by the ''NEIL1'' gene.
NEIL1 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by ...
*
NEIL2
Endonuclease VIII-like 2 is an enzyme that in humans is encoded by the ''NEIL2'' gene.
NEIL2 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by ...
*
NEIL3
Nei endonuclease VIII-like 3 (E. coli) is a protein in humans that is encoded by the NEIL3 gene.
NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excisio ...
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
{{gene-16-stub