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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25939

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	References	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	References	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	References	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

SAMHD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SAMHD1	Q9Y3Z3	SAMHD1	Homo sapiens	Q9Y3Z3	GMS	24141705
Intra	SAMHD1	Q9Y3Z3	SAMHD1	Homo sapiens	Q9Y3Z3	X-Ray Diffraction	22056990
Intra	SAMHD1	Q9Y3Z3	SAMHD1	Homo sapiens	Q9Y3Z3	Light Scattering	22056990
Intra	SAMHD1	Q9Y3Z3	SAMHD1	Homo sapiens	Q9Y3Z3	GMS	22056990
Intra	SAMHD1	Q9Y3Z3	SAMHD1	Homo sapiens	Q9Y3Z3	Solution Sedimentation	22056990
Intra	SAMHD1	Q9Y3Z3	SAMHD1	Homo sapiens	Q9Y3Z3	X-Ray Diffraction	24141705
Intra	SAMHD1	Q9Y3Z3	LGALS3BP	Homo sapiens	Q08380	Pull Down	30833792

Cross: Cross-species interaction Intra: Intraspecies interaction

SAMHD1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81797	SAMHD1 Antibody (YA1542)	WB, IHC-P, ICC/IF, FC	Human

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

Pre-clinical Phase

Bioactive Molecules (14)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B1299A	Cephalosporin C zinc salt	Inhibitor	99.31%	Unkown
HY-161296	TH6342	Inhibitor	99.15%	Unkown
HY-RS12433	SAMHD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-137613	Sp-TTPαS	Inhibitor	/	Unkown
HY-137613A	Sp-TTPαS tetrasodium	Inhibitor	/	Unkown
HY-137618A	Sp-dGTPαS tetrasodium		/	Unkown
HY-137618B	Rp-dGTPαS		/	Unkown
HY-137619A	Sp-dCTPαS tetrasodium		/	Unkown
HY-182970	PROTAC SAMHD1 Degrader-1	Inhibitor	/	Unkown
HY-182973	SAMHD1 ligand-1		/	Unkown
HY-182974	DCAF1 binder 3		/	Unkown
HY-182975	E3 Ligase Ligand-linker Conjugate 229		/	Unkown
HY-RS17783	Samhd1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24250	Samhd1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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