PARP3: Poly(ADP-Ribose) Polymerase 3

A DNA repair enzyme involved in ADP-ribosylation and genome stability

Gene Information Card

Symbol PARP3
Full Name Poly(ADP-Ribose) Polymerase 3
Gene Type Protein coding
Chromosomal Location 3p21.2
NCBI Gene ID 10039 ncbi.nlm.nih.gov/gene/10039
Ensembl ID ENSG00000163874
UniProt ID Q9Y6F1
OMIM ID 607726
HGNC ID 272
Aliases ADPRT3, ARTD3, PADPRT-3

Description

PARP3 (poly(ADP-ribose) polymerase 3) is a member of the PARP family of enzymes that catalyze the transfer of ADP-ribose from NAD+ to target proteins. It plays a key role in DNA repair, particularly in the response to double-strand breaks, and contributes to genome stability. PARP3 is involved in the regulation of chromatin structure and cell cycle progression.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer PARP3 overexpression may promote DNA repair in tumor cells, conferring resistance to therapy ClinVar, COSMIC
Ovarian cancer Altered PARP3 expression linked to DNA repair pathway dysregulation COSMIC
Lung cancer Mutations and copy number alterations observed in non-small cell lung cancer COSMIC
Colorectal cancer PARP3 variants associated with tumor progression COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Spleen 8.3 Low
Lung 6.1 Low
Breast 4.7 Low
Ovary 3.9 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 10.2 Cervical cancer cell line
A549 7.8 Lung cancer cell line
MCF7 5.4 Breast cancer cell line
HEK293 4.1 Embryonic kidney cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412Cys) Missense 0.02% Unknown functional impact
c.567delA (p.Lys189fs) Frameshift 0.01% Loss of function
c.890G>A (p.Arg297Gln) Missense 0.03% Reduced catalytic activity
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations that truncate the protein or disrupt the catalytic domain lead to loss of ADP-ribosyltransferase activity.

Gain of Function (GOF)

No well-characterized gain-of-function mutations reported in PARP3.

Dominant Negative (DN)

Some missense mutations in the catalytic domain may interfere with wild-type PARP3 function, but evidence is limited.

Pathways

• DNA double-strand break repair (non-homologous end joining)
• ADP-ribosylation of proteins
• Base excision repair (indirect)

Protein Summary

PARP3 is a 533-amino acid protein with a molecular weight of approximately 60 kDa. It contains a N-terminal WGR domain and a C-terminal catalytic PARP domain. PARP3 catalyzes mono-ADP-ribosylation of target proteins, including histones and DNA repair factors, and is involved in the early steps of double-strand break repair. It localizes to the nucleus and interacts with other DNA repair proteins such as Ku70/80 and DNA-PKcs.

Related Products

Product name Cat.No. Species Gene ID
PARP3 Knockout HEK293 Cell Line EDJ-KQ3831 Human 10039 Details Get a Quote
PARP3 Knockout A-549 Cell Line EDJ-KQ25981 Human 10039 Details Get a Quote
PARP3 Knockout HCT 116 Cell Line EDJ-KQ25982 Human 10039 Details Get a Quote
PARP3 Knockout HeLa Cell Line EDJ-KQ25983 Human 10039 Details Get a Quote
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