Gene Gene information from NCBI Gene database.
Entrez ID 64921
Gene name CAS1 domain sialic acid O acetyltransferase 1
Gene symbol CASD1
Synonyms (NCBI Gene)
C7orf12Cas1Cas1pNBLA04196SOAT
Chromosome 7
Chromosome location 7q21.3
miRNA miRNA information provided by mirtarbase database.
444
miRTarBase ID miRNA Experiments Reference
MIRT029837 hsa-miR-26b-5p Microarray 19088304
MIRT045824 hsa-miR-140-5p CLASH 23622248
MIRT053459 hsa-miR-452-5p Microarray 23807165
MIRT509879 hsa-miR-8485 HITS-CLIP 21572407
MIRT509878 hsa-miR-329-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IDA 26169044
GO:0000139 Component Golgi membrane IEA
GO:0005794 Component Golgi apparatus IEA
GO:0005975 Process Carbohydrate metabolic process IDA 26169044
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611686 16014 ENSG00000127995
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF07779 Cas1_AcylT 295 776 10 TM Acyl Transferase domain found in Cas1p Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in peripheral B lymphocytes. {ECO:0000269|PubMed:21507905}.
Sequence
Sequence length 797
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MOVEMENT DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCLONIC DYSTONIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 34208013
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 7734304
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 20947662
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Associate 31198983
★☆☆☆☆
Found in Text Mining only