SCPEP1
Serine Carboxypeptidase 1
Gene Information Card
| Symbol | SCPEP1 |
|---|---|
| Full Name | Serine Carboxypeptidase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 59342 ncbi.nlm.nih.gov/gene/59342 |
| Ensembl ID | ENSG00000108468 |
| UniProt ID | Q9HB40 |
| OMIM ID | 610413 |
| HGNC ID | 24279 |
| Aliases | CSPP, RISC, SCP1, lysosomal carboxypeptidase |
Description
SCPEP1 encodes a serine carboxypeptidase that localizes to lysosomes and functions in the degradation of proteins and peptides. It belongs to the S10 family of serine carboxypeptidases and is involved in proteolytic processing within the lysosomal compartment. The enzyme has broad substrate specificity and may play roles in antigen processing, hormone maturation, and extracellular matrix remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lysosomal storage disorders | Impaired lysosomal proteolysis due to SCPEP1 deficiency may contribute to accumulation of undigested substrates | PMID: 12374762 |
| Cancer (breast, lung, colorectal) | Altered SCPEP1 expression correlates with tumor progression and metastasis; potential role in extracellular matrix degradation | PMID: 25691885 |
| Neurodegeneration | Lysosomal dysfunction linked to SCPEP1 variants may affect neuronal protein clearance | PMID: 28430825 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Lung | 8.2 | Medium |
| Brain | 5.1 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| A549 | 9.7 | Lung adenocarcinoma cell line |
| MCF7 | 7.4 | Breast cancer cell line |
| HEK293 | 6.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | missense | 0.01% (gnomAD) | Reduced catalytic activity in vitro |
| c.452G>A (p.Arg151His) | missense | 0.005% (gnomAD) | Unknown functional effect |
| c.788delC | frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the catalytic triad (Ser-179, Asp-384, His-414) are predicted to cause loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SCPEP1.
Dominant Negative (DN)
No dominant-negative mutations have been described for SCPEP1.
View complete mutation data：
Gene Ontology (GO)
| • serine-type carboxypeptidase activity (GO:0004185) | • lysosome (GO:0005764) |
| • proteolysis (GO:0006508) | • hydrolase activity (GO:0016787) |
Pathways
• Lysosome (KEGG: hsa04142)
• Proteolysis and protein degradation
Protein Summary
SCPEP1 is a 452-amino-acid lysosomal serine carboxypeptidase with a signal peptide (1-19) and a catalytic domain (20-452). The active site contains the canonical Ser-Asp-His triad. The enzyme is synthesized as a zymogen and activated by proteolytic cleavage. It functions optimally at acidic pH and can process a variety of C-terminal amino acids. Post-translational modifications include N-glycosylation at Asn-120 and Asn-281.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCPEP1 Knockout HEK293 Cell Line | EDJ-KQ15192 | Human | 59342 | Details Get a Quote |
| SCPEP1 Knockout A-549 Cell Line | EDJ-KQ47989 | Human | 59342 | Details Get a Quote |
| SCPEP1 Knockout HCT 116 Cell Line | EDJ-KQ47991 | Human | 59342 | Details Get a Quote |
| SCPEP1 Knockout HeLa Cell Line | EDJ-KQ47992 | Human | 59342 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
