APLF (Aprataxin and PNKP Like Factor)
A key player in DNA single-strand break repair and cellular response to oxidative damage
Gene Information Card
| Symbol | APLF |
|---|---|
| Full Name | Aprataxin and PNKP Like Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 200558 ncbi.nlm.nih.gov/gene/200558 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q8IW19 |
| OMIM ID | 611035 |
| HGNC ID | 28777 |
| Aliases | C2orf13, PALF, XRCC1-interacting protein 1 |
Description
The APLF gene encodes a protein involved in DNA single-strand break repair and the cellular response to oxidative stress. It functions as a scaffold that recruits repair factors to sites of DNA damage and possesses poly(ADP-ribose) binding activity, facilitating rapid localization to damaged chromatin.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia, autosomal recessive 1 (SCAR1) | Loss-of-function mutations impair DNA repair, leading to neurodegeneration | OMIM #611035 |
| Breast cancer | Altered APLF expression may contribute to genomic instability | COSMIC, ClinVar |
| Colorectal cancer | Somatic mutations in APLF associated with microsatellite instability | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Brain | 6.1 | Low |
| Heart | 5.4 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| HEK 293 | 9.1 | Embryonic kidney cells |
| K562 | 7.8 | Leukemia cell line |
| MCF7 | 6.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.430C>T (p.Arg144*) | Nonsense | <0.01% | Loss of function; associated with SCAR1 |
| c.497_498delAG (p.Glu166Valfs*2) | Frameshift | <0.01% | Loss of function; reported in ataxia patients |
| c.1015G>A (p.Gly339Arg) | Missense | 0.02% | Unknown significance; observed in cancer samples |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in APLF lead to truncated protein, impairing DNA repair and causing spinocerebellar ataxia.
Gain of Function (GOF)
No evidence of gain-of-function mutations in APLF.
Dominant Negative (DN)
No dominant-negative mutations reported for APLF.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • single-strand break repair |
| • poly(ADP-ribose) binding | • damaged DNA binding |
| • protein binding | • nucleus |
Pathways
• DNA single-strand break repair
• Base excision repair
• Poly(ADP-ribose) polymerase (PARP) signaling
Protein Summary
The APLF protein (UniProt Q8IW19) is a 511-amino acid nuclear protein that contains a forkhead-associated (FHA) domain and a poly(ADP-ribose)-binding zinc finger (PBZ) domain. It interacts with XRCC1 and PARP1 to facilitate the recruitment of repair enzymes to DNA single-strand breaks. APLF is essential for efficient repair of oxidative damage and maintenance of genomic stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APLF Knockout HEK293 Cell Line | EDJ-KQ4542 | Human | 200558 | Details Get a Quote |
| APLF Knockout A-549 Cell Line | EDJ-KQ27168 | Human | 200558 | Details Get a Quote |
| APLF Knockout HeLa Cell Line | EDJ-KQ59010 | Human | 200558 | Details Get a Quote |
| APLF Knockout HCT 116 Cell Line | EDJ-KQ75888 | Human | 200558 | Details Get a Quote |
