DCST1 (DC-STAMP Domain Containing 1)
A gene encoding a protein with a DC-STAMP domain, involved in cell fusion and osteoclast differentiation.
Gene Information Card
| Symbol | DCST1 |
|---|---|
| Full Name | DC-STAMP Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 149095 ncbi.nlm.nih.gov/gene/149095 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q8N7X0 |
| OMIM ID | 615206 |
| HGNC ID | 28369 |
| Aliases | DC-STAMP domain containing 1, FLJ22662 |
Description
DCST1 (DC-STAMP Domain Containing 1) is a protein-coding gene located on chromosome 1q32.1. The encoded protein contains a DC-STAMP (dendritic cell-specific transmembrane protein) domain, which is implicated in cell-cell fusion processes, particularly in osteoclast formation and immune cell fusion. DCST1 is expressed in various tissues and may play a role in bone remodeling and immune responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteopetrosis (potential) | DCST1 may regulate osteoclast fusion; loss-of-function could impair bone resorption. | Limited evidence; inferred from DC-STAMP family function (PMID: 17028579). |
| Cancer (general) | Altered DCST1 expression may affect tumor cell fusion and metastasis. | COSMIC database reports somatic mutations in various cancers. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 2.3 | Low |
| Lung | 1.8 | Low |
| Spleen | 1.5 | Low |
| Testis | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 0.9 | Low expression |
| HeLa (cervical) | 0.5 | Very low |
| HEK 293 (embryonic kidney) | 0.3 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown; predicted benign by SIFT |
| c.250G>A (p.Gly84Ser) | Missense | <0.01% | Unknown; predicted possibly damaging by PolyPhen-2 |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • signal transduction (GO:0007165) | • cadherin binding (GO:0045296) |
Pathways
• Osteoclast differentiation (KEGG: hsa04380) - inferred from DC-STAMP family
• Cell adhesion molecules (CAMs) (KEGG: hsa04514) - inferred
Protein Summary
The DCST1 protein is a transmembrane domain-containing protein with a DC-STAMP domain. It is predicted to localize to the plasma membrane and may participate in cell-cell fusion events, particularly in osteoclasts. Its exact function remains under investigation, but it is thought to be involved in signal transduction and cell adhesion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCST1 Knockout HEK293 Cell Line | EDJ-KQ2799 | Human | 149095 | Details Get a Quote |
| DCST1 Knockout HeLa Cell Line | EDJ-KQ58622 | Human | 149095 | Details Get a Quote |
| DCST1 Knockout A-549 Cell Line | EDJ-KQ67104 | Human | 149095 | Details Get a Quote |
| DCST1 Knockout HCT 116 Cell Line | EDJ-KQ75514 | Human | 149095 | Details Get a Quote |
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