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

Homo sapiens

Also known as DCIP; CHBL2; HDDC1; MOP-5; SBBI88; hSAMHD1

Gene ID: 25939 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA binding	IDA IDA: Inferred from direct assay	22461318	GOA
NOT enables RNA nuclease activity	IDA IDA: Inferred from direct assay	29670289	GOA
enables RNA nuclease activity	IDA IDA: Inferred from direct assay	25038827	GOA
enables dGTP binding	IDA IDA: Inferred from direct assay	24141705	GOA
enables dGTPase activity	IDA IDA: Inferred from direct assay	23601106	GOA
enables deoxynucleoside triphosphate hydrolase activity	IDA IDA: Inferred from direct assay	23601106	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	22056990	GOA
enables nucleic acid binding	IDA IDA: Inferred from direct assay	22461318	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21903422	GOA
enables single-stranded DNA binding	IDA IDA: Inferred from direct assay	29670289	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	24217394	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	28834754	GOA
involved in DNA strand resection involved in replication fork processing	IDA IDA: Inferred from direct assay	28834754	GOA
involved in dATP catabolic process	IDA IDA: Inferred from direct assay	24141705	GOA
involved in dGTP catabolic process	IDA IDA: Inferred from direct assay	24217394	GOA
involved in defense response to virus	IDA IDA: Inferred from direct assay	23601106	GOA
involved in defense response to virus	IMP IMP: Inferred from mutant phenotype	19525956	GOA
involved in deoxyribonucleotide catabolic process	IDA IDA: Inferred from direct assay	23601106	GOA
involved in double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	28834754	GOA
involved in negative regulation of type I interferon-mediated signaling pathway	IDA IDA: Inferred from direct assay	29670289	GOA
involved in protein homotetramerization	IDA IDA: Inferred from direct assay	23601106	GOA
involved in regulation of innate immune response	IDA IDA: Inferred from direct assay	29670289	GOA
involved in regulation of innate immune response	IMP IMP: Inferred from mutant phenotype	19525956	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	19525956	GOA
located in site of double-strand break	IDA IDA: Inferred from direct assay	28834754	GOA
located in tetraspanin-enriched microdomain	IDA IDA: Inferred from direct assay	28871089	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

SAMHD1 Protein Structure

SAM_2

0
100
200
300
400
500
626 a.a.

Protein Preferred Names

Protein Names

deoxynucleoside triphosphate triphosphohydrolase SAMHD1

SAM domain and HD domain 1

Related Diseases

Diseases

Alias

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

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B1299A	Cephalosporin C zinc salt	Inhibitor	99.13%	Unkown
HY-161296	TH6342	Inhibitor	98.90%	Unkown
HY-137618B	Rp-dGTPαS		/	Unkown
HY-RS12433	SAMHD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-137613	Sp-TTPαS	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	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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