EuRBPDB

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  • Cancer Related Information

  • Description
  • RBPome
  • Literatures
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Gene Ontology
Description
Ensembl ID
ENSG00000101347 (Gene tree)
Gene ID
25939
Gene Symbol
SAMHD1
Alias
SBBI88|Mg11|HDDC1|MOP-5|AGS5
Full Name
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
Gene Type
protein_coding
Species
Homo_sapiens
Status
confidence
Strand
Minus strand
Length
62,129 bases
Position
chr20:36,889,773-36,951,901
Accession
15925
RBP type
non-canonical RBP
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]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
29431736Capturing the interactome of newly transcribed RNAPolyT-RICK & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595
29431736Capturing the interactome of newly transcribed RNARICK & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595

Literatures on RNA binding capacity
PIDTitleArticle TimeAuthorDoi
23364794Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction.J Biol Chem2013 Mar 22Beloglazova Ndoi: 10.1074/jbc.M112.431148
23158101Contribution of SAM and HD domains to retroviral restriction mediated by human SAMHD1.Virology2013 Feb 5White TEdoi: 10.1016/j.virol.2012.10.029
26733158Functional organization of human SAMHD1 and mechanisms of HIV-1 restriction.Biol Chem2016 AprAhn Jdoi: 10.1515/hsz-2015-0260.
22461318SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutieres syndrome-associated mutations.Hum Mutat2012 JulGoncalves Adoi: 10.1002/humu.22087
26101257SAMHD1 is a single-stranded nucleic acid binding protein with no active site-associated nuclease activity.Nucleic Acids Res2015 Jul 27Seamon KJdoi: 10.1093/nar/gkv633
29793958SAMHD1 Impairs HIV-1 Gene Expression and Negatively Modulates Reactivation of Viral Latency in CD4+ T Cells.J Virol2018 Jul 17Antonucci JMdoi: 10.1128/JVI.00292-18
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000646673SAMHD1-2215298-ENSP00000493536626 (aa)-Q9Y3Z3
ENST00000644114SAMHD1-2131735-ENSP00000494354413 (aa)-A0A2R8YD90
ENST00000646066SAMHD1-2191671-ENSP00000495432556 (aa)-Q9Y3Z3
ENST00000643907SAMHD1-211540--- (aa)--
ENST00000644688SAMHD1-216951--- (aa)--
ENST00000647095SAMHD1-2255492--- (aa)--
ENST00000643003SAMHD1-206546--- (aa)--
ENST00000643161SAMHD1-208816--- (aa)--
ENST00000646866SAMHD1-222975-ENSP00000495737129 (aa)-A0A2R8Y755
ENST00000262878SAMHD1-2014334XM_005260384ENSP00000262878591 (aa)XP_005260441Q9Y3Z3
ENST00000646904SAMHD1-2244672-ENSP00000494823285 (aa)-A0A2R8YF51
ENST00000646869SAMHD1-2233209-ENSP00000495667626 (aa)-Q9Y3Z3
ENST00000646121SAMHD1-220643-ENSP0000049564589 (aa)-A0A2R8YG48
ENST00000645444SAMHD1-2183763-ENSP00000495381212 (aa)-A0A2R8Y6J9
ENST00000645033SAMHD1-2174680-ENSP00000494520289 (aa)-A0A2R8Y5D2
ENST00000643243SAMHD1-2091260--- (aa)--
ENST00000465985SAMHD1-202513-ENSP00000496075104 (aa)-A0A2R8YF18
ENST00000644250SAMHD1-2141824-ENSP0000049381044 (aa)-A0A2R8YDI8
ENST00000647459SAMHD1-2273146--- (aa)--
ENST00000644370SAMHD1-215527--- (aa)--
ENST00000643918SAMHD1-2122967XM_011528761ENSP00000493928589 (aa)XP_011527063A0A2R8YCS7
ENST00000642246SAMHD1-2044508-ENSP00000494979127 (aa)-A0A2R8Y7R5
ENST00000642186SAMHD1-2033312-ENSP00000494436289 (aa)-A0A2R8Y5D2
ENST00000647163SAMHD1-2263440-ENSP00000494313289 (aa)-A0A2R8Y5D2
ENST00000642616SAMHD1-2051424-ENSP00000494271156 (aa)-A0A2R8Y586
ENST00000643078SAMHD1-2071395-ENSP00000496474127 (aa)-A0A2R8Y7R5
ENST00000643825SAMHD1-210522-ENSP00000495448139 (aa)-A0A2R8YFV6
Gene Model
Click here to download ENSG00000101347's gene model file
Pathways
Pathway IDPathway NameSource
hsa05170Human immunodeficiency virus 1 infectionKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000101347Platelet Function Tests7.5755000E-005-
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000101347rs116961692036923214CLow tan response29739929[0.088-0.284] unit increase0.186EFO_0004279
ENSG00000101347rs60303692036949294?Hair color30595370EFO_0007822
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000101347's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000724double-strand break repair via homologous recombination28834754.29670289.IDAProcess
GO:0003676nucleic acid binding22461318.IDAFunction
GO:0003697single-stranded DNA binding29670289.IDAFunction
GO:0003723RNA binding22461318.IDAFunction
GO:0004540ribonuclease activity25038827.IDAFunction
GO:0004540ribonuclease activity29670289.IDAFunction
GO:0005515protein binding21903422.23414517.23601106.28834754.28871089.29670289.IPIFunction
GO:0005525GTP binding-IEAFunction
GO:0005634nucleus21873635.IBAComponent
GO:0005634nucleus19525956.IDAComponent
GO:0005654nucleoplasm-IDAComponent
GO:0005654nucleoplasm-TASComponent
GO:0005886plasma membrane-IDAComponent
GO:0006203dGTP catabolic process21873635.IBAProcess
GO:0006203dGTP catabolic process24217394.IDAProcess
GO:0006955immune response11064105.NASProcess
GO:0006974cellular response to DNA damage stimulus28834754.29670289.IDAProcess
GO:0008270zinc ion binding24217394.IDAFunction
GO:0008832dGTPase activity21873635.IBAFunction
GO:0008832dGTPase activity23601106.24217394.26294762.IDAFunction
GO:0009264deoxyribonucleotide catabolic process23601106.26294762.IDAProcess
GO:0009264deoxyribonucleotide catabolic process-TASProcess
GO:0016446somatic hypermutation of immunoglobulin genes-ISSProcess
GO:0016793triphosphoric monoester hydrolase activity23601106.26294762.IDAFunction
GO:0032567dGTP binding24141705.IDAFunction
GO:0035861site of double-strand break28834754.29670289.IDAComponent
GO:0042802identical protein binding22056990.24141705.IPIFunction
GO:0045088regulation of innate immune response21873635.IBAProcess
GO:0045088regulation of innate immune response29670289.IDAProcess
GO:0045088regulation of innate immune response19525956.IMPProcess
GO:0046061dATP catabolic process24141705.IDAProcess
GO:0051289protein homotetramerization23601106.24217394.26294762.IDAProcess
GO:0051607defense response to virus21873635.IBAProcess
GO:0051607defense response to virus23601106.26294762.IDAProcess
GO:0051607defense response to virus19525956.IMPProcess
GO:0060337type I interferon signaling pathway-TASProcess
GO:0060339negative regulation of type I interferon-mediated signaling pathway29670289.IDAProcess
GO:0090501RNA phosphodiester bond hydrolysis-IEAProcess
GO:0097197tetraspanin-enriched microdomain28871089.IDAComponent
GO:0110025DNA strand resection involved in replication fork processing28834754.29670289.IDAProcess

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
25449277SAMHD1 is down regulated in lung cancer by methylation and inhibits tumor cell proliferation.Biochem Biophys Res Commun2014 Dec 12Wang JLdoi: 10.1016/j.bbrc.2014.10.153
29352181SAMHD1 is recurrently mutated in T-cell prolymphocytic leukemia.Blood Cancer J2018 Jan 19Johansson Pdoi: 10.1038/s41408-017-0036-5.
27071091Heterozygous colon cancer-associated mutations of SAMHD1 have functional significance.Proc Natl Acad Sci U S A2016 Apr 26Rentoft Mdoi: 10.1073/pnas.1519128113
26416562Regulation of deoxynucleotide metabolism in cancer: novel mechanisms and therapeutic implications.Mol Cancer2015 Sep 29Kohnken Rdoi: 10.1186/s12943-015-0446-6.
24317272Identification of natural splice variants of SAMHD1 in virus-infected HCC.Oncol Rep2014 FebShi Ydoi: 10.3892/or.2013.2895

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
BLCAchr2036951508Missense_MutationNAG46S0.18
BLCAchr2036912503Missense_MutationNAR371H0.06
BLCAchr2036892983SilentNAL610L0.36
BLCAchr2036905492Frame_Shift_InsnovelL428Sfs*80.42
BLCAchr2036951564Missense_MutationNAS27F0.43
BLCAchr2036916727Missense_MutationnovelD353H0.14
BLCAchr2036904245Splice_SitenovelX471_splice0.36
BLCAchr2036919448Silentrs140804613Q256Q0.24
BRCAchr2036897957In_Frame_InsnovelV537_S538insH0.04
BRCAchr2036897958Frame_Shift_InsnovelV537Dfs*250.03
BRCAchr2036892981Missense_Mutationrs150713148R611Q0.08
BRCAchr2036919470Missense_MutationNAG249E0.38
BRCAchr2036941074Nonsense_MutationnovelQ105*0.07
BRCAchr2036893057Missense_MutationNAV586I0.11
BRCAchr2036927226Missense_MutationNAD218H0.29
BRCAchr2036905487Missense_MutationNAE429D0.11
BRCAchr20369517635'UTRnovel0.12
CESCchr2036935052Missense_MutationnovelH162Q0.47
COADchr2036897834SilentNAF578F0.27
COADchr2036935129Missense_Mutationrs751309717D137N0.1
COADchr2036898475Missense_MutationNAA525T0.21
COADchr2036905422Missense_MutationNAR451P0.19
COADchr2036935104Missense_Mutationrs515726145R145Q0.24
COADchr2036916742Missense_Mutationrs761561066R348C0.28
COADchr2036935141Missense_MutationNAV133I0.25
COADchr2036935141Missense_MutationNAV133I0.21
COADchr2036912518Missense_MutationNAR366H0.4
COADchr2036893026Frame_Shift_DelNAK596Rfs*350.26
COADchr2036904171Missense_MutationNAD497Y0.36
COADchr2036916771Missense_MutationNAA338V0.2
COADchr20368927113'UTRnovel0.35
COADchr2036916772Missense_MutationNAA338T0.09
DLBCchr2036930785Missense_MutationnovelQ200H0.48
ESCAchr2036911265Missense_MutationnovelR408P0.06
ESCAchr2036905476Missense_MutationnovelS433C0.07
GBMchr20369517745'UTRnovel0.6
GBMchr2036919486Missense_MutationNAL244F0.36
GBMchr2036897834Missense_MutationnovelF578L0.23
GBMchr2036951534Missense_MutationnovelE37A0.04
HNSCchr2036930786Missense_Mutationrs758250759Q200R0.31
HNSCchr2036951628In_Frame_InsnovelD5dup0.17
HNSCchr2036930796Missense_MutationnovelL197V0.13
HNSCchr20368928863'UTRnovel0.28
HNSCchr2036898462Missense_MutationnovelA529E0.4
HNSCchr2036898463Missense_MutationnovelA529T0.4
HNSCchr2036904174Nonsense_MutationnovelE496*0.17
HNSCchr2036905366Missense_MutationnovelR470G0.1
KICHchr20368927593'UTRnovel0.24
KIRCchr2036897875Missense_Mutationrs779491090A565T0.07
KIRCchr2036951483Frame_Shift_DelnovelL54Pfs*120.24
KIRCchr2036935075Frame_Shift_DelnovelY155Mfs*150.24
KIRCchr2036919474Missense_MutationNAN248D0.21
KIRCchr2036941083Frame_Shift_InsnovelS102Efs*120.05
KIRPchr2036904228Missense_MutationNAK478E0.61
LAMLchr2036930852Missense_MutationnovelL178Q0.04
LAMLchr2036927236SilentnovelS214S0.09
LAMLchr2036927238Missense_MutationnovelS214P0.08
LGGchr2036930781Missense_MutationnovelA202T0.1
LIHCchr2036912484Missense_MutationnovelK377N0.25
LIHCchr2036935132Missense_MutationnovelI136F0.43
LIHCchr2036905376Frame_Shift_InsnovelI468Dfs*20.17
LIHCchr2036893026Frame_Shift_DelNAK596Rfs*350.32
LUADchr2036893052SilentNAI587I0.51
LUADchr2036897916Missense_MutationnovelR551P0.05
LUADchr2036912490Silentrs201876333Q375Q0.28
LUADchr2036911280Missense_MutationNAG403V0.18
LUADchr2036935101Missense_MutationnovelY146F0.17
LUADchr2036916769Frame_Shift_DelnovelR339Vfs*50.31
LUADchr2036935080Missense_MutationnovelG153V0.65
LUADchr2036916830Missense_MutationnovelR318S0.18
LUADchr2036911239Frame_Shift_DelnovelE417Kfs*60.22
LUADchr2036905453Missense_MutationNAA441T0.08
LUSCchr2036893074Splice_Regionnovel0.53
LUSCchr2036911257Missense_MutationnovelT411S0.06
LUSCchr2036916769Missense_MutationnovelR339C0.26
LUSCchr20368929233'UTRnovel0.3
LUSCchr20368929023'UTRnovel0.24
LUSCchr2036905473Missense_MutationNAT434I0.1
LUSCchr2036898449SilentnovelT533T0.25
LUSCchr2036941103Missense_MutationnovelG95V0.23
LUSCchr2036927205Missense_MutationnovelA225S0.05
OVchr2036897951Missense_MutationnovelQ539H0.09
OVchr2036951468Missense_MutationNAF59C0.04
PAADchr2036919476Missense_MutationNAS247Y0.18
PAADchr2036935047Missense_MutationnovelR164Q0.23
PAADchr2036935105Nonsense_Mutationrs121434517R145*0.22
PCPGchr20369516885'UTRrs3744936820.28
PRADchr2036916768Missense_Mutationrs201250022R339H0.37
READchr2036916988Missense_MutationNAR305I0.18
READchr2036893068Splice_Regionnovel0.11
READchr2036946787Missense_Mutationrs141599277A76T0.18
READchr20368927693'UTRnovel0.11
READchr2036916997Missense_MutationnovelS302Y0.27
SARCchr2036916742Missense_Mutationrs761561066R348C0.17
SARCchr2036927183Missense_Mutationrs766842258T232M0.24
SARCchr2036916953Missense_MutationnovelA317S0.64
SKCMchr2036897829Missense_MutationNAK580T0.25
SKCMchr2036898440Splice_RegionNAQ536Q0.29
SKCMchr2036905423Missense_MutationNAR451C0.27
SKCMchr2036919435Missense_MutationNAP261S0.18
SKCMchr2036930845SilentNAH180H0.06
SKCMchr2036919435Missense_MutationNAP261S0.39
SKCMchr2036935154Silentrs756023341L128L0.32
SKCMchr2036941070Missense_Mutationrs753821325R106Q0.49
SKCMchr2036941108SilentnovelS93S0.31
SKCMchr2036946805Splice_SiteNAX70_splice0.45
SKCMchr2036916794Silentrs756532676D330D0.42
SKCMchr2036919443Missense_MutationNAG258D0.06
SKCMchr2036927202Frame_Shift_DelnovelL224Pfs*80.28
SKCMchr20369516945'UTRnovel0.32
SKCMchr2036898499Missense_MutationNAH517Y0.3
SKCMchr2036897869Missense_MutationnovelQ567K0.31
SKCMchr2036898512SilentNAK512K0.13
SKCMchr2036897917Nonsense_Mutationrs149846637R551*0.07
SKCMchr2036897917Nonsense_Mutationrs149846637R551*0.19
SKCMchr2036935177Missense_MutationNAP121S0.17
SKCMchr2036904249Missense_MutationnovelE471K0.45
SKCMchr2036905467Missense_MutationNAP436L0.34
SKCMchr2036951529Missense_MutationnovelH39Y0.16
SKCMchr2036951530SilentnovelL38L0.16
SKCMchr2036904251Splice_SiteNAX471_splice0.16
SKCMchr2036919457Silentrs760859048V253V0.13
SKCMchr2036919394SilentnovelG274G0.23
SKCMchr2036916813Missense_MutationNAG324E0.43
SKCMchr2036904207Missense_MutationnovelP485S0.43
STADchr2036892991Missense_MutationNAT608A0.38
STADchr2036911223Missense_MutationNAL422P0.35
STADchr2036905362Splice_SitenovelX470_splice0.07
STADchr20368928393'UTRnovel0.13
STADchr2036927197Silentrs144587056P227P0.1
STADchr2036911239Nonsense_MutationNAE417*0.46
STADchr20369517075'UTRnovel0.11
STADchr20369517085'UTRnovel0.11
STADchr2036951595Missense_MutationnovelD17N0.08
STADchr2036893026Frame_Shift_DelNAK596Rfs*350.31
STADchr2036917033Missense_Mutationrs559553527R290H0.13
STADchr2036897961Splice_SitenovelX537_splice0.36
STADchr2036927185Missense_MutationNAW231C0.26
STADchr2036893048Missense_MutationNAP589T0.22
STADchr2036930850Missense_MutationNAV179F0.47
STADchr2036892934Nonstop_MutationNA*627Gext*170.22
UCECchr2036916787Missense_Mutationrs770005027R333C0.52
UCECchr2036930808Nonsense_Mutationrs754917229E193*0.34
UCECchr2036935129Missense_MutationNAD137H0.13
UCECchr2036935105Nonsense_Mutationrs121434517R145*0.2
UCECchr2036935111Missense_Mutationrs387906948R143C0.38
UCECchr2036941041Missense_MutationnovelK116E0.31
UCECchr2036905450Nonsense_Mutationrs369587937R442*0.38
UCECchr20368926283'UTRnovel0.71
UCECchr2036905376Frame_Shift_InsnovelI466Mfs*70.04
UCECchr2036935047Missense_MutationnovelR164Q0.17
UCECchr2036919387Nonsense_MutationnovelE277*0.39
UCECchr2036930808Nonsense_Mutationrs754917229E193*0.16
UCECchr2036935047Missense_MutationnovelR164Q0.49
UCECchr2036951585Missense_MutationnovelR20K0.13
UCECchr20368927183'UTRnovel0.42
UCECchr2036897912SilentnovelV552V0.4
UCECchr2036916786Missense_Mutationrs755046462R333H0.44
UCECchr20368927223'UTRnovel0.38
UCECchr2036927219Missense_Mutationrs745608353R220Q0.49
UCECchr2036912540Missense_MutationnovelL359M0.54
UCECchr2036951585Missense_MutationnovelR20I0.32
UCECchr2036951596SilentNAD16D0.44
UCECchr2036927193In_Frame_DelNAE228del0.23
UCECchr2036893060Missense_Mutationrs202165710D585N0.32
UCECchr2036911303SilentnovelD395D0.1
UCECchr20368927343'UTRnovel0.5
UCECchr2036951501Missense_MutationnovelE48V0.28
UCECchr2036893061Silentrs753611896G584G0.47
UCECchr20368926363'UTRnovel0.57
UCECchr2036919429Nonsense_MutationnovelE263*0.43
UCECchr2036946805Splice_SitenovelX70_splice0.55
UCECchr2036951585Missense_MutationnovelR20I0.53
UCECchr2036946747Missense_MutationNAL89P0.31
UCECchr2036905445Missense_MutationnovelE443D0.27
UCECchr2036893025Missense_MutationnovelK596N0.29
UCECchr2036905466SilentnovelP436P0.04
UCECchr2036905468Nonsense_MutationnovelD435_P436insV*I*0.04
UCECchr2036912531Missense_MutationnovelM362L0.56
UCECchr20368928923'UTRnovel0.31
UCECchr2036905394Silentrs544083526T460T0.37
UCECchr2036893026Frame_Shift_DelNAK596Rfs*350.4
UCECchr2036905401Missense_MutationnovelG458D0.34
UCECchr2036935142SilentnovelL132L0.38
UCECchr2036911247Missense_MutationnovelD414G0.29
UCECchr2036897939Missense_MutationNAE543D0.5
UCECchr2036893070Splice_Regionnovel0.05
UCECchr2036911299Missense_MutationNAI397L0.35
UCECchr2036893060Missense_Mutationrs202165710D585N0.33
UCECchr20368928393'UTRnovel0.35
UCECchr2036897927Missense_MutationnovelE547D0.06
UCECchr2036904204Missense_MutationnovelK486E0.17
UCECchr2036930844Missense_MutationnovelA181T0.19
UCECchr2036930845SilentNAH180H0.22
UCECchr2036935076Silentrs149267802Y154Y0.35
UCECchr2036916967Missense_MutationnovelK312T0.3
UCECchr2036930805Nonsense_MutationNAR194*0.11
UCECchr2036930773SilentnovelL204L0.18
UCECchr20368929003'UTRnovel0.32
UCSchr2036916997Missense_MutationnovelS302C0.42
UCSchr20368928823'UTRnovel0.38

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
LAMLDEL0.02090.14746

Survival Analysis
CancerP-value Q-value
THYM0.0029

Kaplan-Meier Survival Analysis

SARC0.015

Kaplan-Meier Survival Analysis

MESO0.03

Kaplan-Meier Survival Analysis

ACC0.013

Kaplan-Meier Survival Analysis

HNSC0.021

Kaplan-Meier Survival Analysis

SKCM0.00012

Kaplan-Meier Survival Analysis

ESCA0.0049

Kaplan-Meier Survival Analysis

CESC0.0068

Kaplan-Meier Survival Analysis

LAML0.0018

Kaplan-Meier Survival Analysis

UCEC0.02

Kaplan-Meier Survival Analysis

LGG0.0001

Kaplan-Meier Survival Analysis

LUAD0.036

Kaplan-Meier Survival Analysis

UVM0.025

Kaplan-Meier Survival Analysis

Drugs

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Input Cell Line :


Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742


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