Property Summary

NCBI Gene PubMed Count 115
Grant Count 160
R01 Count 83
Funding $35,093,380.34
PubMed Score 8199.43
PubTator Score 163.15

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (59)

Disease Z-score Confidence
Aicardi-Goutieres syndrome 18 5.497 2.7
Heart disease 279 4.639 2.3
Cancer 2,346 4.638 2.3
Coronary artery disease 240 4.606 2.3
Cerebrovascular disease 231 4.565 2.3
Hypertension 287 4.55 2.3
diabetes mellitus 1,663 4.347 2.2
Gastrointestinal system disease 50 4.159 2.1
Lung disease 132 4.018 2.0
Bone disease 6 4.014 2.0
Refractive error 43 3.825 1.9
Kidney disease 396 3.793 1.9
Asthma 347 3.769 1.9
Human immunodeficiency virus infectious ... 92  3.661 1.8
Obesity 616 3.581 1.8
Brain disease 83 3.512 1.8
Glaucoma 134 3.247 1.6
Anemia 252 3.201 1.6
Acute cystitis 37 3.043 1.5
Amblyopia 24 3.039 1.5
AICARDI-GOUTIERES SYNDROME 1 5
AICARDI-GOUTIERES SYNDROME 5 (disorder) 1
CHILBLAIN LUPUS 2 1
Chilblain lupus 1 2
Deoxyguanosine Kinase Deficiency 2
Duchenne muscular dystrophy 602
IGA Glomerulonephritis 454
active Crohn's disease 918
acute quadriplegic myopathy 1,157
aldosterone-producing adenoma 664
astrocytoma 1,493
autosomal dominant Emery-Dreifuss muscul... 499 
chronic lymphosyte leukemia 232
cutaneous lupus erythematosus 1,056
fascioscapulohumeral muscular dystrophy 100
gastric carcinoma 832
glioblastoma multiforme 347
group 3 medulloblastoma 2,254
interstitial cystitis 2,299
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous carcinoma... 2,988 
intraductal papillary-mucinous neoplasm ... 3,289 
juvenile dermatomyositis 1,189
limb girdle muscular dystrophy 2A 156
lung cancer 4,466
lung carcinoma 2,844
medulloblastoma, large-cell 6,234
non-small cell lung cancer 2,798
oligodendroglioma 2,849
osteosarcoma 7,933
ovarian cancer 8,484
pancreatic ductal adenocarcinoma liver m... 1,795 
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
pituitary cancer 1,972
primary Sjogren syndrome 789
subependymal giant cell astrocytoma 2,287
tuberculosis 1,557
ulcerative colitis 2,085

Expression

Synonym

Accession Q9Y3Z3 B4E2A5 E1P5V2 Q5JXG8 Q8N491 Q9H004 Q9H005 Q9H3U9 dNTPase
Symbols DCIP
CHBL2
HDDC1
MOP-5
SBBI88

Gene

PDB

2E8O   3U1N   4BZB   4BZC   4CC9   4MZ7   4Q7H   4QFX   4QFY   4QFZ   4QG0   4QG1   4QG2   4QG4   4RXO   4RXP   4RXQ   4RXR   4RXS   4TNP   4TNQ   4TNR   4TNX   4TNY   4TNZ   4TO0   4TO1   4TO2   4TO3   4TO4   4TO5   4TO6   4ZWE   4ZWG   5AO0   5AO1   5AO2   5AO3   5AO4  

Gene RIF (143)

PMID Text
26779819 Therefore, our findings revealed that factors in addition to Vpx-SAMHD1 binding influence the efficiency of Vpx-mediated SAMHD1 degradation.
26733158 The SAMHD1 restricts HIV-1 infection in non-cycling cells by limiting the pool of deoxyribonucleoside triphosphates, thereby interfering with HIV-1 reverse transcription.
26655245 These results argue against a requirement for additional myeloid-specific host factors for SAMHD1 function but further support the notion that SAMHD1 possesses an additional dNTP-independent function contributing to lentiviral restriction.
26606981 SAMHD1 may facilitate some aspects of THP-1 cell differentiation.
26504826 Studied whether one or more SAMHD1 gene mutations are associated with cerebrovascular disease in the general population using a Chinese stroke cohort.
26431200 SAMHD1 phosphorylation also ablates restriction and tetramer formation but without affecting triphosphohydrolase steady-state kinetics
26416562 This review summarizes the latest advances in understanding the importance of dNTP metabolism in cancer development and the novel function of SAMHD1 in regulating this process.
26397446 Interferonstimulated gene factor 3 complex, which consists of STAT1, STAT2 and IRF9, is required for the induction of SAMHD1 expression by IFN-alpha in SMMC-7721 cells.
26342080 results prove the importance of SAMHD1 in the regulation of all dNTP pools and suggest that dGK inside mitochondria has the function of recycling the deoxyguanosine derived from endogenous dGTP degraded by SAMHD1 in the nucleus
26294762 The phosphomimetic mutation results in a significant decrease in the population of active SAMHD1 tetramers, and hence the dNTPase activity is substantially decreased.
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AA Sequence

MQRADSEQPSKRPRCDDSPRTPSNTPSAEADWSPGLELHPDYKTWGPEQVCSFLRRGGFEEPVLLKNIRE      1 - 70
NEITGALLPCLDESRFENLGVSSLGERKKLLSYIQRLVQIHVDTMKVINDPIHGHIELHPLLVRIIDTPQ     71 - 140
FQRLRYIKQLGGGYYVFPGASHNRFEHSLGVGYLAGCLVHALGEKQPELQISERDVLCVQIAGLCHDLGH    141 - 210
GPFSHMFDGRFIPLARPEVKWTHEQGSVMMFEHLINSNGIKPVMEQYGLIPEEDICFIKEQIVGPLESPV    211 - 280
EDSLWPYKGRPENKSFLYEIVSNKRNGIDVDKWDYFARDCHHLGIQNNFDYKRFIKFARVCEVDNELRIC    281 - 350
ARDKEVGNLYDMFHTRNSLHRRAYQHKVGNIIDTMITDAFLKADDYIEITGAGGKKYRISTAIDDMEAYT    351 - 420
KLTDNIFLEILYSTDPKLKDAREILKQIEYRNLFKYVGETQPTGQIKIKREDYESLPKEVASAKPKVLLD    421 - 490
VKLKAEDFIVDVINMDYGMQEKNPIDHVSFYCKTAPNRAIRITKNQVSQLLPEKFAEQLIRVYCKKVDRK    491 - 560
SLYAARQYFVQWCADRNFTKPQDGDVIAPLITPQKKEWNDSTSVQNPTRLREASKSRVQLFKDDPM        561 - 626
//

Publication (122)

PMID Year Title
26779819 2016 HD domain of SAMHD1 influences Vpx-induced degradation at a post-interaction step.
26733158 2016 Functional organization of human SAMHD1 and mechanisms of HIV-1 restriction.
26655245 2016 Low dNTP levels are necessary but may not be sufficient for lentiviral restriction by SAMHD1.
26606981 2015 Evidence that HIV-1 restriction factor SAMHD1 facilitates differentiation of myeloid THP-1 cells.
26504826 2015 SAMHD1 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis.
26431200 2015 Phospho-dependent Regulation of SAMHD1 Oligomerisation Couples Catalysis and Restriction.
26416562 2015 Regulation of deoxynucleotide metabolism in cancer: novel mechanisms and therapeutic implications.
26397446 2015 Interferon-stimulated gene factor 3 complex is required for the induction of sterile ? motif and HD domain-containing protein 1 expression by interferon-? in SMMC-7721 cells.
26342080 2015 The Deoxynucleoside Triphosphate Triphosphohydrolase Activity of SAMHD1 Protein Contributes to the Mitochondrial DNA Depletion Associated with Genetic Deficiency of Deoxyguanosine Kinase.
26294762 2015 Impaired dNTPase activity of SAMHD1 by phosphomimetic mutation of Thr-592.
More...