WRNIP1
WRN helicase interacting protein 1
Gene Information Card
| Symbol | WRNIP1 |
|---|---|
| Full Name | WRN helicase interacting protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p25.2 |
| NCBI Gene ID | 56897 ncbi.nlm.nih.gov/gene/56897 |
| Ensembl ID | ENSG00000124571 |
| UniProt ID | Q96S55 |
| OMIM ID | 608196 |
| HGNC ID | 20876 |
| Aliases | WHIP, WRNIP, FLJ12513, MGC131738 |
Description
WRNIP1 encodes a protein that interacts with the WRN helicase and is involved in DNA repair, replication fork stability, and maintenance of genomic integrity. The protein possesses ATPase activity and is part of the AAA+ family. It localizes to sites of DNA damage and is implicated in the cellular response to replication stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia complementation group (potential) | Defective DNA interstrand crosslink repair due to WRNIP1 dysfunction | ClinVar, OMIM |
| Breast cancer | Altered WRNIP1 expression may contribute to genomic instability | COSMIC, NCBI |
| Colorectal cancer | Somatic mutations in WRNIP1 observed in tumor samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.5 | Moderate expression |
| K562 | 6.3 | Low expression |
| MCF7 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional impact |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Predicted loss of function |
| c.890A>G (p.Asn297Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to truncate the protein, likely impairing ATPase activity and DNA repair function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • DNA binding | • DNA repair |
| • protein binding | • replication fork protection |
| • response to DNA damage stimulus |
Pathways
• Fanconi anemia pathway
• DNA repair
• Replication stress response
Protein Summary
WRNIP1 is a 648-amino acid protein containing an AAA+ ATPase domain. It interacts with WRN helicase and other DNA repair factors. The protein forms oligomeric rings and is recruited to stalled replication forks to promote fork stability and restart. It also participates in interstrand crosslink repair via the Fanconi anemia pathway.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WRNIP1 Knockout HEK293 Cell Line | EDJ-KQ11895 | Human | 56897 | Details Get a Quote |
| WRNIP1 Knockout HeLa Cell Line | EDJ-KQ39111 | Human | 56897 | Details Get a Quote |
| WRNIP1 Knockout A-549 Cell Line | EDJ-KQ40350 | Human | 56897 | Details Get a Quote |
| WRNIP1 Knockout HCT 116 Cell Line | EDJ-KQ40351 | Human | 56897 | Details Get a Quote |
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