SSU72L3 Gene - SSU72 Like RNA Polymerase II CTD Phosphatase Subunit
A comprehensive biomedical overview of SSU72L3, including genomic annotations, expression profiles, disease associations, and functional classifications.
Gene Information Card
| Symbol | SSU72L3 |
|---|---|
| Full Name | SSU72 like RNA polymerase II CTD phosphatase subunit |
| Gene Type | protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 100130776 ncbi.nlm.nih.gov/gene/100130776 |
| Ensembl ID | ENSG00000228716 |
| UniProt ID | A6NKF9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:44255 |
| Aliases | SSU72L, C1orf190 |
Description
SSU72L3 is a protein-coding gene located on chromosome 1 at 1p36.33. It encodes a protein that shares similarity with SSU72, a phosphatase involved in RNA polymerase II transcription regulation. The gene is part of the SSU72-like family, though its specific functional roles are still under investigation. According to NCBI, the gene is annotated as SSU72 like RNA polymerase II CTD phosphatase subunit. Expression data from the Human Protein Atlas indicate low to moderate expression in various tissues, with notable presence in the thyroid and adrenal glands. The protein is predicted to localize to the nucleus and may participate in transcription-related processes, but detailed functional studies are limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not established | No direct disease association has been confirmed for SSU72L3 in major databases such as OMIM or ClinVar. | No evidence from OMIM or ClinVar as of the latest update. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 8.2 | Low |
| Adrenal gland | 7.5 | Low |
| Testis | 6.1 | Low |
| Lung | 5.0 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 5.2 | Low expression |
| A549 | 4.8 | Low expression |
| MCF7 | 3.9 | Low expression |
| K562 | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not applicable | Not reported | No functional effect documented in COSMIC or ClinVar. |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations for SSU72L3 has been reported in curated databases.
Gain of Function (GOF)
No evidence of gain-of-function mutations for SSU72L3 has been reported in curated databases.
Dominant Negative (DN)
No evidence of dominant-negative mutations for SSU72L3 has been reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • phosphatase activity | • RNA polymerase II C-terminal domain binding |
| • nucleus | • transcription regulation |
Pathways
• RNA polymerase II transcription
Protein Summary
The SSU72L3 protein is a putative phosphatase that may dephosphorylate the C-terminal domain of RNA polymerase II, thereby influencing transcription dynamics. Its exact substrate specificity and biological role remain to be fully characterized. The protein is predicted to be nuclear and may interact with transcription complexes. UniProt lists it as a member of the SSU72-like family, but no experimental validation of its catalytic activity has been published to date.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SSU72L3 Knockout HEK293 Cell Line | EDJ-KQ15520 | Human | 143506 | Details Get a Quote |
| SSU72L3 Knockout A-549 Cell Line | EDJ-KQ46345 | Human | 143506 | Details Get a Quote |
| SSU72L3 Knockout HCT 116 Cell Line | EDJ-KQ46346 | Human | 143506 | Details Get a Quote |
| SSU72L3 Knockout HeLa Cell Line | EDJ-KQ46347 | Human | 143506 | Details Get a Quote |
