SAMD8 - sterile alpha motif domain containing 8 Gene

中文名称：含无菌 alpha 基序结构域 8

种属: Homo sapiens

同用名: SMSr; HEL-177

基因 ID: 142891 | 基因类型: protein coding

关于 SAMD8

Cytogenetic location: 10q22.2 Genomic coordinates (GRCh38): 10:75,099,593-75,182,123 (from NCBI)

This gene has 6 transcripts (splice variants), 211 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 15.2), testis (RPKM 8.3) and 24 other tissues.

功能概要

预测可启用神经酰胺胆碱磷酸转移酶活性和鞘磷脂合成酶活性。参与神经酰胺生物合成过程和神经酰胺生物合成过程的调控。位于胞质溶胶和内质网中。是内质网膜的组成部分。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable ceramide cholinephosphotransferase activity and sphingomyelin synthase activity. Involved in ceramide biosynthetic process and regulation of ceramide biosynthetic process. Located in cytosol and endoplasmic reticulum. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

SAMD8 基因产物(2)

mRNA	Protein	Name
NM_001174156.2	NP_001167627.1	sphingomyelin synthase-related protein 1 isoform 1
NM_144660.3	NP_653261.1	sphingomyelin synthase-related protein 1 isoform 2

基因本体论

生物过程
细胞组分

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in ceramide biosynthetic process	IDA IDA: 通过直接分析推断	19506037	GOA
involved in regulation of ceramide biosynthetic process	IDA IDA: 通过直接分析推断	19506037	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	19506037	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

SAMD8 蛋白结构

SAM_1

PAP2_C

0
100
200
300
415 a.a.

蛋白主名

其他名称

sphingomyelin synthase-related protein 1

CPE synthase

关联疾病

疾病名称

别名

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS12430	SAMD8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	SAMD8	VGNC	VGNC:77109
Bos taurus	SAMD8	VGNC	VGNC:34276
Mus musculus	SAMD8	MGD	MGI:1914880
Felis catus	SAMD8	VGNC	VGNC:64865
Rattus norvegicus	SAMD8	RGD	RGD:1306447
Canis familiaris	SAMD8	VGNC	VGNC:45855

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SAMD8 - sterile alpha motif domain containing 8 Gene

关于 SAMD8

功能概要

SAMD8 基因产物(2)

SAMD8 蛋白结构

关联疾病

直系同源

热门区域

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SAMD8 - sterile alpha motif domain containing 8 Gene

关于 SAMD8

功能概要

SAMD8 基因产物(2)

SAMD8 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z