2. Gene
  3. CASD1 - CAS1 domain containing 1 Gene

CASD1 - CAS1 domain containing 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含 CAS1 域 1

种属: Homo sapiens

同用名: SOAT; C7orf12; NBLA04196

基因 ID: 64921 | 基因类型: protein coding

关于 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.

功能概要

启用 N-乙酰神经氨酸 7-O (或 9-O) -乙酰转移酶活性。参与碳水化合物代谢过程。是高尔基体膜的组成部分。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity IDA
IDA: 通过直接分析推断
26169044 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in carbohydrate metabolic process IDA
IDA: 通过直接分析推断
26169044 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi membrane IDA
IDA: 通过直接分析推断
26169044 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CASD1 蛋白结构

PC-Esterase

PC-Esterase: GDSL/SGNH-like Acyl-Esterase family found in Pmr5 and Cas1p (75 - 292)

Cas1_AcylT

Cas1_AcylT: 10 TM Acyl Transferase domain found in Cas1p (294 - 780)

  • 0
  • 200
  • 400
  • 600
  • 797 a.a.
蛋白主名 其他名称

N-acetylneuraminate 9-O-acetyltransferase

CAS1 domain-containing protein 1

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01937 CASD1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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