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Product Name SAMHD1/MOP5 Chinese Name 单核细胞蛋白5抗体 Alias DCIP; Dendritic cell derived IFNG induced protein; Dendritic cell-derived IFNG-induced protein; HD domain containing 1; HDDC1; Mg11; Monocyte protein 5; MOP 5; MOP5; OTTHUMP00000030889; SAM domain and HD domain 1; SAM domain and HD domain containing protein 1; SAM domain and HD domain-containing protein 1; SAMH1_HUMAN; Samhd1; SBBI88. Research Area Cell biology immunology Neurobiology Bacteria and viruses Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Cow, Horse, Sheep, ) Applications WB=1:500-2000 ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 72kDa Cellular localization The nucleus Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human SAMHD1/HDDC1/MOP5: 256-370/626 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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]
Function:
Putative nuclease involved in innate immune response byacting as a negative regulator of the cell-intrinsic antiviralresponse. May play a role in mediating proinflammatory responses toTNF-alpha signaling.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expressed in heart, skeletal muscle, spleen,liver, small intestine, placenta, lung and peripheral bloodleukocytes. No expression is seen in brain and thymus.
Post-translational modifications:
Phosphorylation at Thr-592 by CDK1 acts as a switch to control deoxynucleoside triphosphate (dNTPase)-dependent and -independent functions (PubMed:29670289). Phosphorylation at Thr-592 takes place in cycling cells: it reduces the stability of the homotetramer, impairing the dNTPase activity and subsequent ability to restrict infection by viruses (PubMed:23602554, PubMed:23601106, PubMed:26294762, PubMed:26431200). It also inhibits ability to suppress LINE-1 retrotransposon activity (PubMed:29610582). In contrast, phosphorylation at Thr-592 promotes DNA end resection at stalled replication forks in response to DNA damage (PubMed:29670289).
DISEASE:
Defects in SAMHD1 are the cause of Aicardi-Goutieressyndrome type 5 (AGS5) [MIM:612952]. A form of Aicardi-Goutieressyndrome, a genetically heterogeneous disease characterized bycerebral atrophy, leukoencephalopathy, intracranial calcifications,chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSFalpha-interferon, and negative serologic investigations for commonprenatal infection. Clinical features as thrombocytopenia,hepatosplenomegaly and elevated hepatic transaminases along withintermittent fever may erroneously suggest an infective process.Severe neurological dysfunctions manifest in infancy as progressivemicrocephaly, spasticity, dystonic posturing and profoundpsychomotor retardation. Death often occurs in early childhood.
Defects in SAMHD1 are the cause of chilblain lupus type 2(CHBL2) [MIM:614415]. A rare cutaneous form of lupus erythematosus.Affected individuals present with painful bluish-red papular ornodular lesions of the skin in acral locations precipitated by coldand wet exposure at temperatures less than 10 degrees centigrade.
Similarity:
Belongs to the SAMHD1 family.
Contains 1 HD domain.
Contains 1 SAM (sterile alpha motif) domain.
SWISS:
Q9Y3Z3
Gene ID:
25939
Database links:Entrez Gene: 25939 Human
Entrez Gene: 56045 Mouse
Omim: 606754 Human
SwissProt: Q9Y3Z3 Human
SwissProt: Q60710 Mouse
SwissProt: Q502K2 Zebrafish
Unigene: 580681 Human
Unigene: 248478 Mouse
Unigene: 468781 Mouse
Unigene: 22305 Rat
Unigene: 79209 Zebrafish
近来经科学家研究发现,SAMHD1蛋白有抑制marrow cells感染HIV(艾滋病病毒)的机制,SAMHD1蛋白能感应到诸如巨噬细胞和树状细胞等marrow cells感染到HIV-1病毒(HIV分为1型和2型,1型是目前全球流行的主要毒株,2型目前只在西非流行)和其他相关的免疫缺陷病毒,并阻止病毒副本在这些细胞内的合成,从而抑制HIV病毒感染。Product Picture
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