SLX4IP
SLX4 Interacting Protein
Gene Information Card
| Symbol | SLX4IP |
|---|---|
| Full Name | SLX4 interacting protein |
| Gene Type | protein-coding |
| Chromosomal Location | 20p12.2 |
| NCBI Gene ID | 128710 ncbi.nlm.nih.gov/gene/128710 |
| Ensembl ID | ENSG00000125868 |
| UniProt ID | Q5T0F9 |
| OMIM ID | 615959 |
| HGNC ID | 26346 |
| Aliases | C20orf94, dJ1181N3.1, FLJ32786 |
Description
SLX4IP (SLX4 interacting protein) is a protein-coding gene involved in the maintenance of genomic stability. It interacts with SLX4, a scaffold protein that coordinates structure-specific endonucleases during DNA repair and homologous recombination. SLX4IP is also implicated in telomere maintenance, particularly in alternative lengthening of telomeres (ALT) pathways. The gene is located on chromosome 20p12.2 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | SLX4IP may contribute to genomic instability when dysregulated, promoting tumorigenesis. | COSMIC database reports mutations in various cancers. |
| Alternative Lengthening of Telomeres (ALT) cancers | SLX4IP is involved in telomere maintenance via ALT, and its loss may impair this pathway. | Studies in ALT cell lines show SLX4IP depletion reduces ALT activity. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 8.7 | Low |
| Lymph node | 7.1 | Low |
| Spleen | 6.5 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Embryonic kidney cells |
| HeLa | 8.9 | Cervical cancer cells |
| U2OS | 7.3 | Osteosarcoma cells (ALT positive) |
| HCT116 | 6.1 | Colorectal carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown functional effect |
| c.250_251del (p.Leu84fs) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu84fs) are predicted to cause loss of function, potentially impairing DNA repair and telomere maintenance.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • telomere maintenance |
| • protein binding | • nucleus |
Pathways
• Homologous recombination
• Telomere maintenance via ALT
Protein Summary
The SLX4IP protein is a 364-amino acid polypeptide that interacts with SLX4, a key scaffold in DNA repair. It localizes to the nucleus and is involved in resolving DNA replication intermediates and promoting telomere recombination in ALT cells. Its expression is moderate in testis and low in most other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLX4IP Knockout HEK293 Cell Line | EDJ-KQ8422 | Human | 128710 | Details Get a Quote |
| SLX4IP Knockout A-549 Cell Line | EDJ-KQ35752 | Human | 128710 | Details Get a Quote |
| SLX4IP Knockout HCT 116 Cell Line | EDJ-KQ35754 | Human | 128710 | Details Get a Quote |
| SLX4IP Knockout HeLa Cell Line | EDJ-KQ35755 | Human | 128710 | Details Get a Quote |
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