SHPRH Gene - SNF2 Histone Linker PHD RING Helicase
A chromatin remodeling factor implicated in DNA repair and tumor suppression
Gene Information Card
| Symbol | SHPRH |
|---|---|
| Full Name | SNF2 Histone Linker PHD RING Helicase |
| Gene Type | Protein coding |
| Chromosomal Location | 6q24.3 |
| NCBI Gene ID | 25797 ncbi.nlm.nih.gov/gene/25797 |
| Ensembl ID | ENSG00000146426 |
| UniProt ID | Q149N8 |
| OMIM ID | 611781 |
| HGNC ID | 29336 |
| Aliases | FLJ21908, KIAA2023, SNF2L, SNF2L1 |
Description
SHPRH encodes a member of the SNF2 family of chromatin remodeling proteins. It contains a SNF2-related helicase domain, a PHD finger, and a RING finger domain. The protein functions as a ubiquitin ligase involved in DNA damage tolerance and replication stress response, and is considered a putative tumor suppressor.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Loss of SHPRH function impairs DNA repair and promotes genomic instability | COSMIC; PMID: 23034410 |
| Glioma | SHPRH mutations and reduced expression linked to tumor progression | ClinVar; PMID: 25670082 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| A549 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2749C>T (p.Arg917*) | Nonsense | <0.1% | Loss of function |
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Unknown significance |
| c.3456_3457insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing DNA repair and increasing genomic instability.
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)
| • GO:0004386 (helicase activity) | • GO:0005515 (protein binding) |
| • GO:0005634 (nucleus) | • GO:0006281 (DNA repair) |
| • GO:0008270 (zinc ion binding) | • GO:0016567 (protein ubiquitination) |
| • GO:0032508 (DNA duplex unwinding) |
Pathways
• DNA damage tolerance (hsa03460)
• Fanconi anemia pathway (hsa03460)
• Ubiquitin mediated proteolysis (hsa04120)
Protein Summary
SHPRH is a 1683-amino acid protein with a SNF2-related helicase domain, a PHD finger, and a RING finger. It acts as an E3 ubiquitin ligase that monoubiquitinates PCNA in response to replication stress, facilitating translesion synthesis and DNA damage tolerance. The protein localizes to the nucleus and is involved in chromatin remodeling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SHPRH Knockout HEK293 Cell Line | EDJ-KQ11864 | Human | 257218 | Details Get a Quote |
| SHPRH Knockout HeLa Cell Line | EDJ-KQ39050 | Human | 257218 | Details Get a Quote |
| SHPRH Knockout A-549 Cell Line | EDJ-KQ40291 | Human | 257218 | Details Get a Quote |
| SHPRH Knockout HCT 116 Cell Line | EDJ-KQ40292 | Human | 257218 | Details Get a Quote |
| SHPRH Knockout HAP1 Cell Line | EDC08155 | Human | 257218 | Details Get a Quote |
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