SSU72L1 Gene - SSU72 Like RNA Polymerase II CTD Phosphatase Subunit
A pseudogene-derived homolog of SSU72 with potential regulatory roles in transcription and RNA processing.
Gene Information Card
| Symbol | SSU72L1 |
|---|---|
| Full Name | SSU72 like RNA polymerase II CTD phosphatase subunit |
| Gene Type | protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 100131392 ncbi.nlm.nih.gov/gene/100131392 |
| Ensembl ID | ENSG00000228716 |
| UniProt ID | A6NKF9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:44251 |
| Aliases | SSU72L, C1orf128 |
Description
SSU72L1 is a protein-coding gene located on chromosome 1p36.33. It is a homolog of SSU72, a phosphatase that dephosphorylates the C-terminal domain (CTD) of RNA polymerase II, thereby regulating transcription and RNA processing. SSU72L1 is thought to have arisen from a retrotransposition event and may retain similar enzymatic activity, though its exact function remains under investigation. It is expressed in various tissues and has been implicated in certain cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Potential involvement in tumorigenesis via altered expression or interaction with transcription machinery | Limited evidence from expression studies and cancer databases (e.g., COSMIC) |
| Developmental disorders | Possible role in gene regulation during development, but no direct disease association established | No direct clinical evidence; inferred from homology to SSU72 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Low |
| Adrenal gland | 6.1 | Low |
| Bone marrow | 4.3 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Myelogenous leukemia cell line; moderate expression |
| HeLa | 9.4 | Cervical carcinoma cell line; low expression |
| A549 | 7.1 | Lung carcinoma cell line; low expression |
| HepG2 | 5.6 | Hepatocellular carcinoma cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Not reported | Potential loss of start codon, affecting translation |
| c.100C>T (p.Arg34Trp) | Missense | Not reported | May affect protein stability or function |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported; predicted from missense variants that may disrupt protein structure.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • phosphoprotein phosphatase activity | • RNA polymerase II CTD heptapeptide repeat phosphatase activity |
| • nucleus | • transcription regulation |
Pathways
• RNA Polymerase II Transcription
• CTD phosphorylation/dephosphorylation cycle
Protein Summary
The SSU72L1 protein is a predicted phosphatase that shares high sequence similarity with SSU72. It contains a conserved CTD phosphatase domain and is likely localized to the nucleus. It may participate in the dephosphorylation of the RNA polymerase II C-terminal domain, influencing transcription elongation and termination. However, its precise substrates and biological roles require further experimental validation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SSU72L1 Knockout HEK293 Cell Line | EDJ-KQ15518 | Human | 390033 | Details Get a Quote |
| SSU72L1 Knockout A-549 Cell Line | EDJ-KQ46339 | Human | 390033 | Details Get a Quote |
| SSU72L1 Knockout HCT 116 Cell Line | EDJ-KQ46340 | Human | 390033 | Details Get a Quote |
| SSU72L1 Knockout HeLa Cell Line | EDJ-KQ46341 | Human | 390033 | Details Get a Quote |
