CASD1 (CAS1 domain sialic acid O acetyltransferase 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 64921 |
| Gene name | CAS1 domain sialic acid O acetyltransferase 1 |
| Gene symbol | CASD1 |
| Synonyms (NCBI Gene) |
C7orf12Cas1Cas1pNBLA04196SOAT
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| Chromosome | 7 |
| Chromosome location | 7q21.3 |
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miRNA
miRNA information provided by mirtarbase database.
444
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q96PB1 | ||||||||||
| Protein name | N-acetylneuraminate (7)9-O-acetyltransferase (EC 2.3.1.45) (CAS1 domain-containing protein 1) (CAS1 protein) (Cas1p) (Sialate O-acetyltransferase) (SOAT) | ||||||||||
| Protein function | Key enzyme in the biosynthesis of O-acetylated (O-Ac) sialoglycans such as gangliosides O-AcGD3 and O-AcGD2, which affect various processes such as cell-cell interactions, host-pathogen recognition (PubMed:20947662, PubMed:26169044, PubMed:34208 | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in peripheral B lymphocytes. {ECO:0000269|PubMed:21507905}. | ||||||||||
| Sequence |
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| Sequence length | 797 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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