CSTPP1: Cystathionine Gamma-Lyase Pseudogene 1
A non-coding pseudogene with limited functional characterization in human genomics.
Gene Information Card
| Symbol | CSTPP1 |
|---|---|
| Full Name | Cystathionine Gamma-Lyase Pseudogene 1 |
| Gene Type | Pseudogene |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 100130889 ncbi.nlm.nih.gov/gene/100130889 |
| Ensembl ID | ENSG00000214706 |
| UniProt ID | Not applicable (pseudogene) |
| OMIM ID | Not available |
| HGNC ID | HGNC:40011 |
| Aliases | CSEP1, CTHL1 |
Description
CSTPP1 (Cystathionine Gamma-Lyase Pseudogene 1) is a processed pseudogene located on chromosome 1p36.13. It is derived from the functional CTH gene (cystathionine gamma-lyase) but contains premature stop codons and is not translated into a functional protein. Its biological significance remains largely uncharacterized.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No known disease associations | Not applicable | No evidence in ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| No reliable expression data | N/A | Pseudogene; not expressed as protein |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No reliable expression data | N/A | Pseudogene; not expressed as protein |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations | N/A | N/A | No functional effect |
Mutation functional classification
Loss of Function (LOF)
Not applicable (pseudogene)
Gain of Function (GOF)
Not applicable (pseudogene)
Dominant Negative (DN)
Not applicable (pseudogene)
View complete mutation data：
Protein Summary
CSTPP1 does not encode a protein. It is a pseudogene derived from the CTH gene, which encodes cystathionine gamma-lyase, an enzyme involved in the transsulfuration pathway. No protein product is produced.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSTPP1 Knockout HEK293 Cell Line | EDJ-KQ13020 | Human | 79096 | Details Get a Quote |
| CSTPP1 Knockout A-549 Cell Line | EDJ-KQ42285 | Human | 79096 | Details Get a Quote |
| CSTPP1 Knockout HCT 116 Cell Line | EDJ-KQ42286 | Human | 79096 | Details Get a Quote |
| CSTPP1 Knockout HeLa Cell Line | EDJ-KQ42287 | Human | 79096 | Details Get a Quote |
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