SPCS1: Signal Peptidase Complex Subunit 1
A key component of the microsomal signal peptidase complex involved in protein translocation and processing.
Gene Information Card
| Symbol | SPCS1 |
|---|---|
| Full Name | Signal Peptidase Complex Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 28972 ncbi.nlm.nih.gov/gene/28972 |
| Ensembl ID | ENSG00000163636 |
| UniProt ID | Q9Y6A9 |
| OMIM ID | 613048 |
| HGNC ID | 29003 |
| Aliases | SPC1, SPC18, HSPC033 |
Description
SPCS1 encodes a subunit of the microsomal signal peptidase complex, which cleaves signal peptides from nascent proteins as they are translocated into the endoplasmic reticulum. This subunit is essential for complex stability and catalytic activity. The gene is located on chromosome 3p21.31 and is widely expressed across tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression may affect protein processing and secretion; somatic mutations reported in COSMIC. | COSMIC |
| Lung cancer | Somatic mutations and copy number alterations observed; potential role in tumorigenesis. | COSMIC |
| Breast cancer | Expression changes linked to ER stress response; mutations identified in cancer genomes. | COSMIC |
| Hepatocellular carcinoma | Dysregulation of signal peptidase complex may contribute to altered glycoprotein processing. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 10.8 | Medium |
| Kidney | 9.2 | Medium |
| Lung | 7.6 | Low |
| Brain | 5.3 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| A549 | 8.9 | Lung adenocarcinoma cell line |
| MCF7 | 7.5 | Breast cancer cell line |
| HEK293 | 11.0 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown; rare variant |
| c.124C>T | Nonsense | <0.01% | Predicted loss of function |
| c.205G>A | Missense | <0.01% | Unknown; rare variant |
| c.308_309insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to cause loss of function by truncating the protein or inducing nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SPCS1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for SPCS1.
View complete mutation data：
Gene Ontology (GO)
| • Signal peptidase activity | • Endoplasmic reticulum membrane |
| • Protein processing | • Proteolysis |
| • Signal peptide processing |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Signal peptide cleavage (Reactome: R-HSA-9609507)
Protein Summary
SPCS1 is a 18 kDa subunit of the signal peptidase complex (SPC) localized to the endoplasmic reticulum membrane. It is required for the assembly and stability of the SPC, which cleaves signal peptides from pre-proteins. The protein contains a single transmembrane domain and is highly conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPCS1 Knockout HEK293 Cell Line | EDJ-KQ51223 | Human | 28972 | Details Get a Quote |
| SPCS1 Knockout HeLa Cell Line | EDJ-KQ56080 | Human | 28972 | Details Get a Quote |
| SPCS1 Knockout A-549 Cell Line | EDJ-KQ64564 | Human | 28972 | Details Get a Quote |
| SPCS1 Knockout HCT 116 Cell Line | EDJ-KQ73020 | Human | 28972 | Details Get a Quote |
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