CSMD1: CUB and Sushi Multiple Domains 1
A tumor suppressor gene implicated in complement regulation and cancer susceptibility
Gene Information Card
| Symbol | CSMD1 |
|---|---|
| Full Name | CUB and Sushi Multiple Domains 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p23.2 |
| NCBI Gene ID | 64478 ncbi.nlm.nih.gov/gene/64478 |
| Ensembl ID | ENSG00000183117 |
| UniProt ID | Q96PZ7 |
| OMIM ID | 608397 |
| HGNC ID | 14026 |
| Aliases | CUB and sushi domain-containing protein 1, KIAA1890 |
Description
CSMD1 encodes a large transmembrane protein containing multiple CUB and sushi (CCP/SCR) domains. It acts as a negative regulator of complement activation and is implicated in tumor suppression, particularly in head and neck squamous cell carcinoma, lung cancer, and breast cancer. The gene is also associated with schizophrenia risk through genome-wide association studies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Head and neck squamous cell carcinoma | Loss of CSMD1 expression leads to increased complement activation and tumor progression | NCBI Gene, COSMIC |
| Lung cancer | Somatic mutations and copy number loss reduce tumor suppressor function | COSMIC, ClinVar |
| Breast cancer | Decreased CSMD1 expression correlates with poor prognosis | NCBI Gene |
| Schizophrenia | GWAS-identified risk variants in CSMD1 affect complement-mediated synaptic pruning | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Lung | 3.8 | Low |
| Breast | 2.1 | Low |
| Testis | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 2.3 | Low expression |
| MCF7 (breast carcinoma) | 1.8 | Low expression |
| HEK293 (embryonic kidney) | 0.9 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% | Loss of function |
| c.5678_5681del (p.Glu1893Valfs*12) | Frameshift deletion | <1% | Loss of function |
| c.8902G>A (p.Gly2968Arg) | Missense | <1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, reducing complement inhibitory activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0001848 – complement binding | • GO:0005886 – plasma membrane |
| • GO:0006956 – complement activation | • GO:0045202 – synapse |
Pathways
• Complement cascade (negative regulation)
• Alternative complement pathway
Protein Summary
CSMD1 is a 3,665-amino acid type I transmembrane glycoprotein with 14 CUB domains and 15 sushi domains. It localizes to the plasma membrane and inhibits complement activation by binding C3b and C4b, thereby protecting cells from complement-mediated damage. In cancer, loss of CSMD1 expression promotes immune evasion and tumor growth.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSMD1 Knockout HEK293 Cell Line | EDJ-KQ11951 | Human | 64478 | Details Get a Quote |
| CSMD1 Knockout HeLa Cell Line | EDJ-KQ57059 | Human | 64478 | Details Get a Quote |
| CSMD1 Knockout A-549 Cell Line | EDJ-KQ65572 | Human | 64478 | Details Get a Quote |
| CSMD1 Knockout HCT 116 Cell Line | EDJ-KQ74001 | Human | 64478 | Details Get a Quote |
| CSMD1 Knockout HAP1 Cell Line | EDC08080 | Human | 64478 | Details Get a Quote |
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