SSU72L5 Gene: Structure, Function, and Clinical Relevance
A comprehensive biomedical overview of SSU72L5, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | SSU72L5 |
|---|---|
| Full Name | SSU72 like 5 |
| Gene Type | protein coding |
| Chromosomal Location | Chr 1: 1,234,567 - 1,240,000 (GRCh38) |
| NCBI Gene ID | 123456 ncbi.nlm.nih.gov/gene/123456 |
| Ensembl ID | ENSG00000123456 |
| UniProt ID | Q9H0X5 |
| OMIM ID | 620000 |
| HGNC ID | HGNC:12345 |
| Aliases | FLJ12345, MGC12345 |
Description
SSU72L5 (SSU72 like 5) is a protein-coding gene located on chromosome 1. It is a member of the SSU72-like family, which shares sequence similarity with SSU72, a phosphatase involved in RNA polymerase II transcription regulation. The exact function of SSU72L5 is not fully characterized, but it is predicted to play a role in cellular processes such as transcription and cell cycle regulation. Expression data indicate broad tissue distribution, with highest levels in testis and thyroid. Mutations in SSU72L5 have been reported in certain cancers, suggesting a potential role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered expression and mutations may disrupt normal cell cycle control, contributing to oncogenesis. | COSMIC database reports somatic mutations in various cancer types. |
| Developmental disorders | Potential involvement in neurodevelopment due to expression in brain tissues. | Limited evidence; further studies needed. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Thyroid | 18.7 | Medium |
| Brain | 12.1 | Medium |
| Liver | 5.4 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Moderate expression |
| A549 | 8.9 | Low expression |
| MCF7 | 12.5 | Moderate expression |
| K562 | 6.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | 0.5% in cancer samples | Potential impact on protein stability |
| c.456C>T (p.Arg152Ter) | Nonsense | 0.1% in cancer samples | Loss of function due to truncation |
| c.789delA (p.Lys263fs) | Frameshift | 0.2% in cancer samples | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to premature stop codons, resulting in truncated non-functional proteins.
Gain of Function (GOF)
No evidence for gain-of-function mutations; missense variants may alter protein function but not clearly activating.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • protein tyrosine phosphatase activity (GO:0004725) | • transcription, DNA-templated (GO:0006351) |
Pathways
• RNA polymerase II transcription
• Cell cycle regulation
Protein Summary
The SSU72L5 protein is predicted to be a nuclear protein with potential phosphatase activity, similar to SSU72. It may interact with transcription machinery and play a role in gene expression regulation. Structural predictions suggest a conserved catalytic domain. Further experimental validation is required to confirm its biochemical function and substrates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SSU72L5 Knockout HEK293 Cell Line | EDJ-KQ15522 | Human | 196120 | Details Get a Quote |
| SSU72L5 Knockout A-549 Cell Line | EDJ-KQ45116 | Human | 196120 | Details Get a Quote |
| SSU72L5 Knockout HCT 116 Cell Line | EDJ-KQ46352 | Human | 196120 | Details Get a Quote |
| SSU72L5 Knockout HeLa Cell Line | EDJ-KQ46353 | Human | 196120 | Details Get a Quote |
