CASD1 - CAS1 domain containing 1 Gene
Also Known as SOAT; C7orf12; NBLA04196
Species: Homo sapiens
About CASD1
This gene has 6 transcripts (splice variants) and 208 orthologues. Ubiquitous expression in adrenal (RPKM 10.9), brain (RPKM 10.1) and 25 other tissues.
Summary
Enables N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity. Involved in carbohydrate metabolic process. Is integral component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
CASD1 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001363426.1 | NP_001350355.1 | N-acetylneuraminate 9-O-acetyltransferase isoform 2 |
| NM_001363427.1 | NP_001350356.1 | N-acetylneuraminate 9-O-acetyltransferase isoform 3 |
| NM_001363428.1 | NP_001350357.1 | N-acetylneuraminate 9-O-acetyltransferase isoform 4 |
| NM_022900.5 | NP_075051.4 | N-acetylneuraminate 9-O-acetyltransferase isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity |
IDA
IDA: Inferred from direct assay
|
26169044 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in carbohydrate metabolic process |
IDA
IDA: Inferred from direct assay
|
26169044 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi membrane |
IDA
IDA: Inferred from direct assay
|
26169044 | GOA |
CASD1 Protein Structure
PC-Esterase: GDSL/SGNH-like Acyl-Esterase family found in Pmr5 and Cas1p (75 - 292)
Cas1_AcylT: 10 TM Acyl Transferase domain found in Cas1p (294 - 780)
- 0
- 200
- 400
- 600
- 797 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
N-acetylneuraminate 9-O-acetyltransferase |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Sgce Myoclonus-Dystonia |
|
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| Dystonia 11, Myoclonic |
|
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| Citrullinemia, Type Ii, Neonatal-Onset |
|
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| Atrial Septal Defect 2 |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | CASD1 | VGNC | VGNC:60377 |
| Mus musculus | CASD1 | MGD | MGI:2384865 |
| Bos taurus | CASD1 | VGNC | VGNC:26775 |
| Canis familiaris | CASD1 | VGNC | VGNC:38728 |
| Rattus norvegicus | CASD1 | RGD | RGD:1596912 |
| Macaca mulatta | CASD1 | VGNC | VGNC:70563 |
| Others | CASD1 | NCBI |