SAMHD1 - SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 Gene

中文名称：含 SAM 和 HD 结构域的脱氧核苷三磷酸三磷酸水解酶 1

种属: Homo sapiens

同用名: DCIP; CHBL2; HDDC1; MOP-5; SBBI88; hSAMHD1

基因 ID: 25939 | 基因类型: protein coding

关于 SAMHD1

Cytogenetic location: 20q11.23 Genomic coordinates (GRCh38): 20:36,889,773-36,951,708 (from NCBI)

This gene has 30 transcripts (splice variants), 236 orthologues and is associated with 5 phenotypes. Ubiquitous expression in appendix (RPKM 54.7), spleen (RPKM 47.0) and 25 other tissues.

功能概要

该基因可能在先天免疫反应的调节中发挥作用。编码的蛋白质响应病毒感染而上调，并可能参与肿瘤坏死因子-α 促炎反应的介导。该基因的突变与 Aicardi-Goutieres 综合征有关。[RefSeq 提供，2010 年 3 月]

This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral Infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]

SAMHD1 基因产物(3)

mRNA	Protein	Name
NM_001363729.2	NP_001350658.1	deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 2
NM_001363733.2	NP_001350662.1	deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 3
NM_015474.4	NP_056289.2	deoxynucleoside triphosphate triphosphohydrolase SAMHD1 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 RNA binding	IDA IDA: 通过直接分析推断	22461318	GOA
NOT enables RNA nuclease activity	IDA IDA: 通过直接分析推断	29670289	GOA
enables RNA nuclease activity	IDA IDA: 通过直接分析推断	25038827	GOA
enables dGTP binding	IDA IDA: 通过直接分析推断	24141705	GOA
enables dGTPase activity	IDA IDA: 通过直接分析推断	23601106	GOA
enables deoxynucleoside triphosphate hydrolase activity	IDA IDA: 通过直接分析推断	23601106	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	22056990	GOA
enables nucleic acid binding	IDA IDA: 通过直接分析推断	22461318	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21903422	GOA
enables single-stranded DNA binding	IDA IDA: 通过直接分析推断	29670289	GOA
enables zinc ion binding	IDA IDA: 通过直接分析推断	24217394	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IDA IDA: 通过直接分析推断	28834754	GOA
involved in DNA strand resection involved in replication fork processing	IDA IDA: 通过直接分析推断	28834754	GOA
involved in dATP catabolic process	IDA IDA: 通过直接分析推断	24141705	GOA
involved in dGTP catabolic process	IDA IDA: 通过直接分析推断	24217394	GOA
involved in defense response to virus	IDA IDA: 通过直接分析推断	23601106	GOA
involved in defense response to virus	IMP IMP: 通过突变表型推断	19525956	GOA
involved in deoxyribonucleotide catabolic process	IDA IDA: 通过直接分析推断	23601106	GOA
involved in double-strand break repair via homologous recombination	IDA IDA: 通过直接分析推断	28834754	GOA
involved in negative regulation of type I interferon-mediated signaling pathway	IDA IDA: 通过直接分析推断	29670289	GOA
involved in protein homotetramerization	IDA IDA: 通过直接分析推断	23601106	GOA
involved in regulation of innate immune response	IDA IDA: 通过直接分析推断	29670289	GOA
involved in regulation of innate immune response	IMP IMP: 通过突变表型推断	19525956	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleus	IDA IDA: 通过直接分析推断	19525956	GOA
located in site of double-strand break	IDA IDA: 通过直接分析推断	28834754	GOA
located in tetraspanin-enriched microdomain	IDA IDA: 通过直接分析推断	28871089	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

SAMHD1 蛋白结构

SAM_2

0
100
200
300
400
500
626 a.a.

蛋白主名

其他名称

deoxynucleoside triphosphate triphosphohydrolase SAMHD1

SAM domain and HD domain 1

SAMHD1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SAMHD1	Q9Y3Z3	SAMHD1	Homo sapiens	Q9Y3Z3	GMS	24141705
种属内	SAMHD1	Q9Y3Z3	SAMHD1	Homo sapiens	Q9Y3Z3	X-Ray Diffraction	22056990
种属内	SAMHD1	Q9Y3Z3	SAMHD1	Homo sapiens	Q9Y3Z3	Light Scattering	22056990
种属内	SAMHD1	Q9Y3Z3	SAMHD1	Homo sapiens	Q9Y3Z3	GMS	22056990
种属内	SAMHD1	Q9Y3Z3	SAMHD1	Homo sapiens	Q9Y3Z3	Solution Sedimentation	22056990
种属内	SAMHD1	Q9Y3Z3	SAMHD1	Homo sapiens	Q9Y3Z3	X-Ray Diffraction	24141705
种属内	SAMHD1	Q9Y3Z3	LGALS3BP	Homo sapiens	Q08380	Pull Down	30833792

种属间: 跨种属相互作用 种属内: 同种属相互作用

SAMHD1 抗体

目录号	产品名	应用	反应物种
HY-P81797	SAMHD1 Antibody (YA1542)	WB, IHC-P, ICC/IF, FC	Human

关联疾病

疾病名称

别名

Aicardi-Goutieres Syndrome 5

AGS5	Pseudo-Torch Syndrome
Cree Encephalitis	Aicardi-Goutieres Syndrome, Type 5
Aicardi-Goutieres Syndrome 1

Chilblain Lupus 2

CHBL2

Chilblain Lupus, Type 2

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome	Cree Encephalitis
Aicardi-Goutières Syndrome	Encephalopathy With Basal Ganglia Calcification
Ags	Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid
Pseudotoxoplasmosis Syndrome	Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis
Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis	Aicardi-Goutieres Syndrome 1

Familial Chilblain Lupus

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Chilblain Lupus 1

Chilblain Lupus	CHBL1
Chilblain Lupus Erythematosus	Chle
Hutchinson Lupus	Chilblain Lupus, Type 1

Lupus Erythematosus

Lupus	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus, Systemic
Subacute Cutaneous Lupus	Le - [Lupus Erythematosus]

Plasma Cell Neoplasm

Plasma Cell Dyscrasia	Paraproteinemias
Plasma Cell Tumour	Plasmacytic Tumor
Multiple Myeloma	Plasmacytoma
Plasma Cell Tumours	Plasma Cells Dyscrasia

Myeloma, Multiple

Multiple Myeloma	Plasma Cell Myeloma
Kahler Disease	Myelomatosis
Medullary Plasmacytoma	Multiple Myeloma, Resistance To
Myeloma	Plasma Cell Dyscrasia
Kahler'S Disease	Multiple Myeloma, Susceptibility To
Myeloma - Multiple	Kahler-Bozzolo Disease
Plasma Cell Myelomas	MM
Plasma Cell Neoplasm	Primary Systemic Amyloidosis
Primary Amyloidosis	Immunoglobulin Deposition Disease
Plasmacytic Myeloma	Multiple Myelomata
Multiple Myeloma Nos	Multiple Myeloma Without Mention Of Remission
Monostotic Plasma Cell Myeloma	Mm - [Multiple Myeloma]

Sting-Associated Vasculopathy With Onset In Infancy

Savi	Sting-Associated Vasculopathy, Infantile Onset
Sting-Associated Vasculopathy, Infantile-Onset

Cutaneous Lupus Erythematosus

Lupus Erythematosus, Cutaneous

Lupus Erythematosus Cutaneous

Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Crv
Rvcl	Rvcl-S
Vasculopathy, Retinal, With Cerebral Leukodystrophy	Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
Retinal Vasculopathy With Cerebral Leukodystrophy	Retinal Vasculopathy And Cerebral Leukoencephalopathy
Hereditary Vascular Retinopathy	Hvr
RVCLS	Cerebroretinal Vasculopathy, Hereditary
Cerebroretinal Vasculopathy	Herns
Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly	Hereditary Cerebroretinal Vasculopathy
Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke	Hereditary Systemic Angiopathy
Hsa	Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations
Adrvcl	Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy
Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke	Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Basal Ganglia Disease

Basal Ganglia Diseases	Basal Ganglia Disorders
Abnormality Of The Basal Ganglia

Torch Syndrome

Basal Ganglia Calcification

Fahr'S Syndrome	Fahr'S Disease
Fahr Disease

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Moyamoya Disease 1

Moyamoya Disease	Spontaneous Occlusion Of The Circle Of Willis
Mymy	Progressive Intracranial Arterial Occlusion
Moyamoya Syndrome	MYMY1
Cerebrovascular Moyamoya Disease	Moya-Moya Disease
Progressive Intracranial Occlusive Arteropathy	Idiopathic Moyamoya Disease

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-B1299A	Cephalosporin C zinc salt	Inhibitor	99.13%	否
HY-161296	TH6342	Inhibitor	98.90%	否
HY-137618B	Rp-dGTPαS		/	否
HY-RS12433	SAMHD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-137613	Sp-TTPαS	Inhibitor	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	SAMHD1	VGNC	VGNC:34277
Mus musculus	SAMHD1	MGD	MGI:1927468
Rattus norvegicus	SAMHD1	RGD	RGD:1308369
Felis catus	SAMHD1	VGNC	VGNC:64866
Canis familiaris	SAMHD1	VGNC	VGNC:45856
Macaca mulatta	SAMHD1	VGNC	VGNC:77020
Others	SAMHD1	NCBI

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上海工商

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营业执照（三证合一）

SAMHD1 - SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 Gene

关于 SAMHD1

功能概要

SAMHD1 基因产物(3)

SAMHD1 蛋白结构

SAMHD1 蛋白互作信息

SAMHD1 抗体

关联疾病

直系同源

热门区域

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SAMHD1 - SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 Gene

关于 SAMHD1

功能概要

SAMHD1 基因产物(3)

SAMHD1 蛋白结构

SAMHD1 蛋白互作信息

SAMHD1 抗体

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