CASD1: CAS1 Domain Containing 1
A gene encoding a protein involved in sialic acid O-acetylation and potential roles in cancer and viral infection.
Gene Information Card
| Symbol | CASD1 |
|---|---|
| Full Name | CAS1 domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 64921 ncbi.nlm.nih.gov/gene/64921 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q96PB7 |
| OMIM ID | 615639 |
| HGNC ID | 25786 |
| Aliases | C7orf12, FLJ21963, MGC138290 |
Description
CASD1 (CAS1 domain containing 1) is a protein-coding gene located on chromosome 7q21.3. The encoded protein is a type II transmembrane protein that localizes to the Golgi apparatus and functions as a sialic acid O-acetyltransferase. It catalyzes the O-acetylation of sialic acids, a modification important for cell-cell interactions, immune recognition, and pathogen binding. CASD1 has been implicated in cancer progression and viral entry, particularly influenza A virus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Influenza A infection | CASD1 is required for 9-O-acetylation of sialic acids, which serves as a receptor for influenza A virus hemagglutinin. | PMID: 25944712 |
| Colorectal cancer | Altered sialic acid O-acetylation mediated by CASD1 may affect tumor cell adhesion and immune evasion. | PMID: 28467927 |
| Breast cancer | CASD1 expression is upregulated in breast cancer tissues and associated with poor prognosis. | PMID: 31270520 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.4 | High |
| Colon | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 12.3 | Medium expression |
| A549 | 7.6 | Low expression |
| MCF7 | 14.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.01% | Unknown functional effect |
| c.1523G>A (p.Arg508Gln) | Missense | 0.005% | May affect protein stability |
| c.1789_1791del (p.Phe597del) | In-frame deletion | <0.001% | Loss of catalytic activity |
Mutation functional classification
Loss of Function (LOF)
In-frame deletion p.Phe597del results in loss of O-acetyltransferase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005794 - Golgi apparatus | • GO:0016740 - transferase activity |
| • GO:0017176 - sialic acid O-acetyltransferase activity | • GO:0018394 - peptidyl-lysine acetylation |
| • GO:0043231 - intracellular membrane-bounded organelle |
Pathways
• Sialic acid metabolism
• O-acetylation of sialic acids
Protein Summary
The CASD1 protein is a 674-amino acid type II transmembrane protein with a single N-terminal transmembrane domain and a C-terminal catalytic domain. It localizes to the Golgi apparatus and catalyzes the transfer of acetyl groups from acetyl-CoA to the 9-hydroxyl group of sialic acids. This modification is critical for modulating cell surface properties, including receptor recognition by pathogens and immune cell interactions. CASD1 is expressed in various tissues, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CASD1 Knockout HEK293 Cell Line | EDC90440 | Human | 64921 | Details Get a Quote |
| CASD1 Knockout A-549 Cell Line | EDJ-KQ23997 | Human | 64921 | Details Get a Quote |
| CASD1 Knockout HCT 116 Cell Line | EDJ-KQ23998 | Human | 64921 | Details Get a Quote |
| CASD1 Knockout HeLa Cell Line | EDJ-KQ23999 | Human | 64921 | Details Get a Quote |
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