CASD1 - CAS1 domain containing 1 Gene

Homo sapiens

Also known as SOAT; C7orf12; NBLA04196

Gene ID: 64921 | Gene type: protein coding

About CASD1

Cytogenetic location: 7q21.3 Genomic coordinates (GRCh38): 7:94,509,809-94,634,172 (from NCBI)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity	IDA IDA: Inferred from direct assay	26169044	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in carbohydrate metabolic process	IDA IDA: Inferred from direct assay	26169044	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	26169044	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CASD1 Protein Structure

PC-Esterase

Cas1_AcylT

0
200
400
600
797 a.a.

Protein Preferred Names

Protein Names

N-acetylneuraminate 9-O-acetyltransferase

CAS1 domain-containing protein 1

Related Diseases

Diseases

Alias

Sgce Myoclonus-Dystonia

Dystonia 11	Dyt11
Dyt-Sgce

Dystonia 11, Myoclonic

Myoclonic Dystonia	Myoclonus-Dystonia Syndrome
DYT11	Myoclonic Dystonia 11
Alcohol-Responsive Dystonia	Myoclonus, Hereditary Essential
Dystonia-11, Myoclonic	Myoclonus-Dystonia
Dystonia 11	Hereditary Essential Myoclonus
Dystonia, Alcohol-Responsive	Dyt-Sgce
Dystonia, Alcohol Responsive	Dystonia-11
Dystonia, Myoclonic	Dystonia, Myoclonic, Type 11

Citrullinemia, Type Ii, Neonatal-Onset

NICCD	Citrin Deficiency
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Citrullinemia, Type Ii, Neonatal-Onset, With Or Without Failure To Thrive And Dyslipidemia
Cholestasis, Neonatal Intrahepatic, Caused By Citrin Deficiency	Neonatal-Onset Type Ii Citrullinemia
Neonatal Intrahepatic Cholestasis Caused By Citrin Deficiency	Neonatal-Onset Citrullinemia Type 2
Neonatal-Onset Citrullinemia Type Ii	Neonatal-Onset Type 2 Citrullinemia
Adult-Onset Citrullinemia Type 2

Atrial Septal Defect 2

ASD2	Atrial Heart Septal Defect 2
Atrial Septal Defect-2	Asd Ii
Septal Defect, Atrial, Type 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01937	CASD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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