Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	25939
Gene name	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
Gene symbol	SAMHD1
Synonyms (NCBI Gene)	CHBL2DCIPHDDC1MOP-5SBBI88hSAMHD1
Chromosome	20
Chromosome location	20q11.23
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

Show/Hide all (29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434517	G>A	Pathogenic	Stop gained, coding sequence variant
rs121434518	G>A	Pathogenic	Stop gained, coding sequence variant
rs121434519	G>A	Pathogenic	Stop gained, coding sequence variant
rs121434520	T>G	Pathogenic	Coding sequence variant, missense variant
rs121434521	T>C	Pathogenic	Coding sequence variant, missense variant
rs138603088	A>T	Likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs147240777	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs267607027	G>A,T	Likely-pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs369035155	C>T	Pathogenic	Coding sequence variant, missense variant
rs369587937	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, stop gained
rs387906948	G>A	Pathogenic	Coding sequence variant, missense variant
rs515726139	A>G	Pathogenic	Coding sequence variant, missense variant
rs515726140	T>C	Pathogenic	Coding sequence variant, missense variant
rs515726141	T>C	Pathogenic	Splice acceptor variant
rs515726142	C>A,T	Pathogenic	Splice donor variant
rs515726143	C>A,G	Pathogenic	Splice acceptor variant
rs515726144	GGATAGGATCAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs515726145	C>T	Pathogenic	Coding sequence variant, missense variant
rs515726146	->C	Pathogenic	Frameshift variant, coding sequence variant
rs752442185	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs768019897	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs768409471	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs774964432	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1219206348	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1335417539	G>A	Pathogenic	Stop gained, coding sequence variant
rs1568762986	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600394490	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1601141002	C>T	Likely-pathogenic	Splice donor variant
rs1601144527	->AA	Pathogenic	Frameshift variant, coding sequence variant

329

Show/Hide all (329)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024909	hsa-miR-215-5p	Microarray	19074876
MIRT026868	hsa-miR-192-5p	Microarray	19074876
MIRT028643	hsa-miR-30a-5p	Proteomics	18668040
MIRT649643	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT649642	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT664751	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT664750	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT664749	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT664748	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT664747	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT649641	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT664746	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649645	hsa-miR-1470	HITS-CLIP	23824327
MIRT649644	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT649643	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT649642	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT235669	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT649641	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT649643	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT649642	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT664751	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT664750	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT664749	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT664748	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT664747	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT649641	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT664746	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649645	hsa-miR-1470	HITS-CLIP	23824327
MIRT649644	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT649643	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT649642	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT235669	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT649641	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT1325669	hsa-miR-1275	CLIP-seq
MIRT1325670	hsa-miR-155	CLIP-seq
MIRT1325671	hsa-miR-1827	CLIP-seq
MIRT1325672	hsa-miR-2114	CLIP-seq
MIRT1325673	hsa-miR-3140-3p	CLIP-seq
MIRT1325674	hsa-miR-3152-5p	CLIP-seq
MIRT1325675	hsa-miR-376a	CLIP-seq
MIRT1325676	hsa-miR-376b	CLIP-seq
MIRT1325677	hsa-miR-4269	CLIP-seq
MIRT1325678	hsa-miR-4438	CLIP-seq
MIRT1325679	hsa-miR-4540	CLIP-seq
MIRT1325680	hsa-miR-4649-3p	CLIP-seq
MIRT1325681	hsa-miR-4656	CLIP-seq
MIRT1325682	hsa-miR-4665-5p	CLIP-seq
MIRT1325683	hsa-miR-4774-3p	CLIP-seq
MIRT1325684	hsa-miR-4794	CLIP-seq
MIRT1325685	hsa-miR-5095	CLIP-seq
MIRT1325686	hsa-miR-548ag	CLIP-seq
MIRT1325687	hsa-miR-548ai	CLIP-seq
MIRT1325688	hsa-miR-890	CLIP-seq
MIRT1325669	hsa-miR-1275	CLIP-seq
MIRT2096591	hsa-miR-127-5p	CLIP-seq
MIRT1325671	hsa-miR-1827	CLIP-seq
MIRT1325672	hsa-miR-2114	CLIP-seq
MIRT2096592	hsa-miR-298	CLIP-seq
MIRT2096593	hsa-miR-3154	CLIP-seq
MIRT2096594	hsa-miR-3646	CLIP-seq
MIRT2096595	hsa-miR-3678-3p	CLIP-seq
MIRT2096596	hsa-miR-4278	CLIP-seq
MIRT2096597	hsa-miR-4419a	CLIP-seq
MIRT2096598	hsa-miR-4459	CLIP-seq
MIRT2096599	hsa-miR-4489	CLIP-seq
MIRT2096600	hsa-miR-4510	CLIP-seq
MIRT1325679	hsa-miR-4540	CLIP-seq
MIRT1325680	hsa-miR-4649-3p	CLIP-seq
MIRT1325681	hsa-miR-4656	CLIP-seq
MIRT1325682	hsa-miR-4665-5p	CLIP-seq
MIRT2096601	hsa-miR-4711-3p	CLIP-seq
MIRT2096602	hsa-miR-4716-3p	CLIP-seq
MIRT2096603	hsa-miR-4722-5p	CLIP-seq
MIRT2096604	hsa-miR-4775	CLIP-seq
MIRT2096605	hsa-miR-4779	CLIP-seq
MIRT2096606	hsa-miR-4786-3p	CLIP-seq
MIRT2096607	hsa-miR-4799-5p	CLIP-seq
MIRT2096608	hsa-miR-511	CLIP-seq
MIRT2096609	hsa-miR-616	CLIP-seq
MIRT1325688	hsa-miR-890	CLIP-seq
MIRT2096610	hsa-miR-940	CLIP-seq
MIRT2321011	hsa-miR-1245b-5p	CLIP-seq
MIRT2321012	hsa-miR-3142	CLIP-seq
MIRT2321013	hsa-miR-320e	CLIP-seq
MIRT2321014	hsa-miR-3925-3p	CLIP-seq
MIRT2321015	hsa-miR-4255	CLIP-seq
MIRT2321016	hsa-miR-4645-5p	CLIP-seq
MIRT2321017	hsa-miR-4673	CLIP-seq
MIRT2321018	hsa-miR-4698	CLIP-seq
MIRT2321019	hsa-miR-4724-5p	CLIP-seq
MIRT1325684	hsa-miR-4794	CLIP-seq
MIRT2321020	hsa-miR-515-5p	CLIP-seq
MIRT2321021	hsa-miR-545	CLIP-seq
MIRT2321022	hsa-miR-548p	CLIP-seq
MIRT2321023	hsa-miR-634	CLIP-seq
MIRT2321024	hsa-miR-766	CLIP-seq
MIRT2394027	hsa-miR-3184	CLIP-seq
MIRT2394028	hsa-miR-3689d	CLIP-seq
MIRT2394029	hsa-miR-423-5p	CLIP-seq
MIRT2394030	hsa-miR-4710	CLIP-seq
MIRT2096601	hsa-miR-4711-3p	CLIP-seq
MIRT2096608	hsa-miR-511	CLIP-seq
MIRT2458800	hsa-miR-1185	CLIP-seq
MIRT2458801	hsa-miR-1322	CLIP-seq
MIRT2458802	hsa-miR-28-5p	CLIP-seq
MIRT2458803	hsa-miR-3139	CLIP-seq
MIRT2458804	hsa-miR-3150b-3p	CLIP-seq
MIRT2458805	hsa-miR-3605-5p	CLIP-seq
MIRT2458806	hsa-miR-3679-5p	CLIP-seq
MIRT2458807	hsa-miR-3921	CLIP-seq
MIRT1325680	hsa-miR-4649-3p	CLIP-seq
MIRT2458808	hsa-miR-4653-5p	CLIP-seq
MIRT2458809	hsa-miR-4689	CLIP-seq
MIRT2458810	hsa-miR-4784	CLIP-seq
MIRT2458811	hsa-miR-708	CLIP-seq
MIRT2466000	hsa-miR-1915	CLIP-seq
MIRT2466001	hsa-miR-4726-3p	CLIP-seq
MIRT2321021	hsa-miR-545	CLIP-seq
MIRT2321022	hsa-miR-548p	CLIP-seq
MIRT2458800	hsa-miR-1185	CLIP-seq
MIRT2616983	hsa-miR-1226	CLIP-seq
MIRT2616984	hsa-miR-1229	CLIP-seq
MIRT2616985	hsa-miR-124	CLIP-seq
MIRT2321011	hsa-miR-1245b-5p	CLIP-seq
MIRT1325669	hsa-miR-1275	CLIP-seq
MIRT2616986	hsa-miR-1285	CLIP-seq
MIRT2458801	hsa-miR-1322	CLIP-seq
MIRT2616987	hsa-miR-150	CLIP-seq
MIRT1325671	hsa-miR-1827	CLIP-seq
MIRT2466000	hsa-miR-1915	CLIP-seq
MIRT2616988	hsa-miR-1972	CLIP-seq
MIRT2616989	hsa-miR-2278	CLIP-seq
MIRT2616990	hsa-miR-2355-5p	CLIP-seq
MIRT2458802	hsa-miR-28-5p	CLIP-seq
MIRT2616991	hsa-miR-3127-5p	CLIP-seq
MIRT2458803	hsa-miR-3139	CLIP-seq
MIRT2321012	hsa-miR-3142	CLIP-seq
MIRT2458804	hsa-miR-3150b-3p	CLIP-seq
MIRT2096593	hsa-miR-3154	CLIP-seq
MIRT2616992	hsa-miR-3174	CLIP-seq
MIRT2616993	hsa-miR-3176	CLIP-seq
MIRT2394027	hsa-miR-3184	CLIP-seq
MIRT2616994	hsa-miR-3187-3p	CLIP-seq
MIRT2616995	hsa-miR-3187-5p	CLIP-seq
MIRT2616996	hsa-miR-34a	CLIP-seq
MIRT2616997	hsa-miR-34c-5p	CLIP-seq
MIRT2458805	hsa-miR-3605-5p	CLIP-seq
MIRT2616998	hsa-miR-3612	CLIP-seq
MIRT2458806	hsa-miR-3679-5p	CLIP-seq
MIRT2394028	hsa-miR-3689d	CLIP-seq
MIRT2616999	hsa-miR-378	CLIP-seq
MIRT2617000	hsa-miR-378b	CLIP-seq
MIRT2617001	hsa-miR-378c	CLIP-seq
MIRT2617002	hsa-miR-378d	CLIP-seq
MIRT2617003	hsa-miR-378e	CLIP-seq
MIRT2617004	hsa-miR-378f	CLIP-seq
MIRT2617005	hsa-miR-378h	CLIP-seq
MIRT2617006	hsa-miR-378i	CLIP-seq
MIRT2458807	hsa-miR-3921	CLIP-seq
MIRT2617007	hsa-miR-3922-3p	CLIP-seq
MIRT2321014	hsa-miR-3925-3p	CLIP-seq
MIRT2617008	hsa-miR-422a	CLIP-seq
MIRT2394029	hsa-miR-423-5p	CLIP-seq
MIRT2321015	hsa-miR-4255	CLIP-seq
MIRT2617009	hsa-miR-4260	CLIP-seq
MIRT2617010	hsa-miR-4267	CLIP-seq
MIRT2096596	hsa-miR-4278	CLIP-seq
MIRT2617011	hsa-miR-4330	CLIP-seq
MIRT2617012	hsa-miR-4435	CLIP-seq
MIRT2617013	hsa-miR-4436b-5p	CLIP-seq
MIRT2617014	hsa-miR-4443	CLIP-seq
MIRT2617015	hsa-miR-4450	CLIP-seq
MIRT2096599	hsa-miR-4489	CLIP-seq
MIRT2617016	hsa-miR-4493	CLIP-seq
MIRT2617017	hsa-miR-449a	CLIP-seq
MIRT2617018	hsa-miR-449b	CLIP-seq
MIRT2617019	hsa-miR-4505	CLIP-seq
MIRT2617020	hsa-miR-4525	CLIP-seq
MIRT2617021	hsa-miR-4529-5p	CLIP-seq
MIRT2617022	hsa-miR-4638-3p	CLIP-seq
MIRT2321016	hsa-miR-4645-5p	CLIP-seq
MIRT1325680	hsa-miR-4649-3p	CLIP-seq
MIRT2617023	hsa-miR-4650-5p	CLIP-seq
MIRT2458808	hsa-miR-4653-5p	CLIP-seq
MIRT2617024	hsa-miR-4655-5p	CLIP-seq
MIRT1325681	hsa-miR-4656	CLIP-seq
MIRT2617025	hsa-miR-4661-3p	CLIP-seq
MIRT1325682	hsa-miR-4665-5p	CLIP-seq
MIRT2321017	hsa-miR-4673	CLIP-seq
MIRT2617026	hsa-miR-4679	CLIP-seq
MIRT2617027	hsa-miR-4685-5p	CLIP-seq
MIRT2458809	hsa-miR-4689	CLIP-seq
MIRT2394030	hsa-miR-4710	CLIP-seq
MIRT2096601	hsa-miR-4711-3p	CLIP-seq
MIRT2617028	hsa-miR-4713-5p	CLIP-seq
MIRT2096602	hsa-miR-4716-3p	CLIP-seq
MIRT2617029	hsa-miR-4717-5p	CLIP-seq
MIRT2617030	hsa-miR-4723-5p	CLIP-seq
MIRT2466001	hsa-miR-4726-3p	CLIP-seq
MIRT2617031	hsa-miR-4733-3p	CLIP-seq
MIRT2617032	hsa-miR-4747-5p	CLIP-seq
MIRT2617033	hsa-miR-4757-5p	CLIP-seq
MIRT2458810	hsa-miR-4784	CLIP-seq
MIRT1325684	hsa-miR-4794	CLIP-seq
MIRT2617034	hsa-miR-4798-3p	CLIP-seq
MIRT2617035	hsa-miR-483-3p	CLIP-seq
MIRT2617036	hsa-miR-496	CLIP-seq
MIRT2617037	hsa-miR-506	CLIP-seq
MIRT2096608	hsa-miR-511	CLIP-seq
MIRT2321020	hsa-miR-515-5p	CLIP-seq
MIRT2617038	hsa-miR-516b	CLIP-seq
MIRT2617039	hsa-miR-532-3p	CLIP-seq
MIRT2321021	hsa-miR-545	CLIP-seq
MIRT2617040	hsa-miR-548an	CLIP-seq
MIRT2321022	hsa-miR-548p	CLIP-seq
MIRT2617041	hsa-miR-612	CLIP-seq
MIRT2617042	hsa-miR-625	CLIP-seq
MIRT2321023	hsa-miR-634	CLIP-seq
MIRT2617043	hsa-miR-650	CLIP-seq
MIRT2617044	hsa-miR-665	CLIP-seq
MIRT2617045	hsa-miR-668	CLIP-seq
MIRT2458811	hsa-miR-708	CLIP-seq
MIRT2321024	hsa-miR-766	CLIP-seq
MIRT2617046	hsa-miR-941	CLIP-seq
MIRT2458800	hsa-miR-1185	CLIP-seq
MIRT2616983	hsa-miR-1226	CLIP-seq
MIRT2616984	hsa-miR-1229	CLIP-seq
MIRT2616985	hsa-miR-124	CLIP-seq
MIRT2321011	hsa-miR-1245b-5p	CLIP-seq
MIRT1325669	hsa-miR-1275	CLIP-seq
MIRT2616986	hsa-miR-1285	CLIP-seq
MIRT2458801	hsa-miR-1322	CLIP-seq
MIRT2616987	hsa-miR-150	CLIP-seq
MIRT2466000	hsa-miR-1915	CLIP-seq
MIRT2616988	hsa-miR-1972	CLIP-seq
MIRT1325672	hsa-miR-2114	CLIP-seq
MIRT2616989	hsa-miR-2278	CLIP-seq
MIRT2616990	hsa-miR-2355-5p	CLIP-seq
MIRT2458802	hsa-miR-28-5p	CLIP-seq
MIRT2616991	hsa-miR-3127-5p	CLIP-seq
MIRT2458803	hsa-miR-3139	CLIP-seq
MIRT2321012	hsa-miR-3142	CLIP-seq
MIRT2458804	hsa-miR-3150b-3p	CLIP-seq
MIRT2096593	hsa-miR-3154	CLIP-seq
MIRT2616992	hsa-miR-3174	CLIP-seq
MIRT2616993	hsa-miR-3176	CLIP-seq
MIRT2394027	hsa-miR-3184	CLIP-seq
MIRT2616994	hsa-miR-3187-3p	CLIP-seq
MIRT2616995	hsa-miR-3187-5p	CLIP-seq
MIRT2616996	hsa-miR-34a	CLIP-seq
MIRT2616997	hsa-miR-34c-5p	CLIP-seq
MIRT2458805	hsa-miR-3605-5p	CLIP-seq
MIRT2616998	hsa-miR-3612	CLIP-seq
MIRT2458806	hsa-miR-3679-5p	CLIP-seq
MIRT2394028	hsa-miR-3689d	CLIP-seq
MIRT2616999	hsa-miR-378	CLIP-seq
MIRT2617000	hsa-miR-378b	CLIP-seq
MIRT2617001	hsa-miR-378c	CLIP-seq
MIRT2617002	hsa-miR-378d	CLIP-seq
MIRT2617003	hsa-miR-378e	CLIP-seq
MIRT2617004	hsa-miR-378f	CLIP-seq
MIRT2617005	hsa-miR-378h	CLIP-seq
MIRT2617006	hsa-miR-378i	CLIP-seq
MIRT2458807	hsa-miR-3921	CLIP-seq
MIRT2617007	hsa-miR-3922-3p	CLIP-seq
MIRT2321014	hsa-miR-3925-3p	CLIP-seq
MIRT2617008	hsa-miR-422a	CLIP-seq
MIRT2394029	hsa-miR-423-5p	CLIP-seq
MIRT2321015	hsa-miR-4255	CLIP-seq
MIRT2617009	hsa-miR-4260	CLIP-seq
MIRT2617010	hsa-miR-4267	CLIP-seq
MIRT2096596	hsa-miR-4278	CLIP-seq
MIRT2617011	hsa-miR-4330	CLIP-seq
MIRT2617012	hsa-miR-4435	CLIP-seq
MIRT2617013	hsa-miR-4436b-5p	CLIP-seq
MIRT2617014	hsa-miR-4443	CLIP-seq
MIRT2617015	hsa-miR-4450	CLIP-seq
MIRT2096599	hsa-miR-4489	CLIP-seq
MIRT2617016	hsa-miR-4493	CLIP-seq
MIRT2617017	hsa-miR-449a	CLIP-seq
MIRT2617018	hsa-miR-449b	CLIP-seq
MIRT2617019	hsa-miR-4505	CLIP-seq
MIRT2617020	hsa-miR-4525	CLIP-seq
MIRT2617021	hsa-miR-4529-5p	CLIP-seq
MIRT1325679	hsa-miR-4540	CLIP-seq
MIRT2617022	hsa-miR-4638-3p	CLIP-seq
MIRT2321016	hsa-miR-4645-5p	CLIP-seq
MIRT1325680	hsa-miR-4649-3p	CLIP-seq
MIRT2617023	hsa-miR-4650-5p	CLIP-seq
MIRT2458808	hsa-miR-4653-5p	CLIP-seq
MIRT2617024	hsa-miR-4655-5p	CLIP-seq
MIRT2617025	hsa-miR-4661-3p	CLIP-seq
MIRT1325682	hsa-miR-4665-5p	CLIP-seq
MIRT2321017	hsa-miR-4673	CLIP-seq
MIRT2617026	hsa-miR-4679	CLIP-seq
MIRT2617027	hsa-miR-4685-5p	CLIP-seq
MIRT2458809	hsa-miR-4689	CLIP-seq
MIRT2394030	hsa-miR-4710	CLIP-seq
MIRT2096601	hsa-miR-4711-3p	CLIP-seq
MIRT2617028	hsa-miR-4713-5p	CLIP-seq
MIRT2096602	hsa-miR-4716-3p	CLIP-seq
MIRT2617029	hsa-miR-4717-5p	CLIP-seq
MIRT2617030	hsa-miR-4723-5p	CLIP-seq
MIRT2466001	hsa-miR-4726-3p	CLIP-seq
MIRT2617031	hsa-miR-4733-3p	CLIP-seq
MIRT2617032	hsa-miR-4747-5p	CLIP-seq
MIRT2617033	hsa-miR-4757-5p	CLIP-seq
MIRT2458810	hsa-miR-4784	CLIP-seq
MIRT1325684	hsa-miR-4794	CLIP-seq
MIRT2617034	hsa-miR-4798-3p	CLIP-seq
MIRT2617035	hsa-miR-483-3p	CLIP-seq
MIRT2617036	hsa-miR-496	CLIP-seq
MIRT2617037	hsa-miR-506	CLIP-seq
MIRT2096608	hsa-miR-511	CLIP-seq
MIRT2321020	hsa-miR-515-5p	CLIP-seq
MIRT2617038	hsa-miR-516b	CLIP-seq
MIRT2617039	hsa-miR-532-3p	CLIP-seq
MIRT2321021	hsa-miR-545	CLIP-seq
MIRT2617040	hsa-miR-548an	CLIP-seq
MIRT2321022	hsa-miR-548p	CLIP-seq
MIRT2617041	hsa-miR-612	CLIP-seq
MIRT2617042	hsa-miR-625	CLIP-seq
MIRT2321023	hsa-miR-634	CLIP-seq
MIRT2617043	hsa-miR-650	CLIP-seq
MIRT2617044	hsa-miR-665	CLIP-seq
MIRT2617045	hsa-miR-668	CLIP-seq
MIRT2458811	hsa-miR-708	CLIP-seq
MIRT2321024	hsa-miR-766	CLIP-seq
MIRT2617046	hsa-miR-941	CLIP-seq

Show/Hide all (56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	28834754, 29670289
GO:0002376	Process	Immune system process	IEA
GO:0003676	Function	Nucleic acid binding	IDA	22461318
GO:0003697	Function	Single-stranded DNA binding	IDA	29670289
GO:0003723	Function	RNA binding	IDA	22461318
GO:0003824	Function	Catalytic activity	IEA
GO:0004540	Function	RNA nuclease activity	IDA	29670289
GO:0004540	Function	RNA nuclease activity	IDA	25038827
GO:0005515	Function	Protein binding	IPI	21903422, 23601106, 28834754, 28871089, 29670289, 30833792
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19525956
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006203	Process	DGTP catabolic process	IBA
GO:0006203	Process	DGTP catabolic process	IDA	24217394
GO:0006260	Process	DNA replication	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006955	Process	Immune response	NAS	11064105
GO:0006974	Process	DNA damage response	IDA	28834754, 29670289
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IDA	24217394
GO:0008832	Function	DGTPase activity	IBA
GO:0008832	Function	DGTPase activity	IDA	23601106, 24217394, 26294762
GO:0008832	Function	DGTPase activity	IEA
GO:0009264	Process	Deoxyribonucleotide catabolic process	IDA	23601106, 26294762
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IEA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016793	Function	Triphosphoric monoester hydrolase activity	IEA
GO:0032567	Function	DGTP binding	IDA	24141705
GO:0035861	Component	Site of double-strand break	IDA	28834754, 29670289
GO:0042802	Function	Identical protein binding	IPI	22056990, 24141705
GO:0045087	Process	Innate immune response	IEA
GO:0045088	Process	Regulation of innate immune response	IBA
GO:0045088	Process	Regulation of innate immune response	IDA	29670289
GO:0045088	Process	Regulation of innate immune response	IMP	19525956
GO:0046061	Process	DATP catabolic process	IDA	24141705
GO:0046061	Process	DATP catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051289	Process	Protein homotetramerization	IDA	23601106, 24217394, 26294762
GO:0051289	Process	Protein homotetramerization	IEA
GO:0051607	Process	Defense response to virus	IBA
GO:0051607	Process	Defense response to virus	IDA	23601106, 26294762
GO:0051607	Process	Defense response to virus	IEA
GO:0051607	Process	Defense response to virus	IMP	19525956
GO:0060339	Process	Negative regulation of type I interferon-mediated signaling pathway	IDA	29670289
GO:0060339	Process	Negative regulation of type I interferon-mediated signaling pathway	IEA
GO:0097197	Component	Tetraspanin-enriched microdomain	IDA	28871089
GO:0106375	Function	Deoxynucleoside triphosphate hydrolase activity	IDA	23601106, 26294762
GO:0106375	Function	Deoxynucleoside triphosphate hydrolase activity	IEA
GO:0110025	Process	DNA strand resection involved in replication fork processing	IDA	28834754, 29670289

MIM	HGNC	e!Ensembl
606754	15925	ENSG00000101347

Q9Y3Z3

Protein name

Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 (dNTPase) (EC 3.1.5.-) (Dendritic cell-derived IFNG-induced protein) (DCIP) (Monocyte protein 5) (MOP-5) (SAM domain and HD domain-containing protein 1) (hSAMHD1)

Protein function

Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks (PubMed:19525956, PubMed:21613998, PubMed:21720370, PubMed:22056990, PubMed:23601106,

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 , 6CM2 , 6DW3 , 6DW4 , 6DW5 , 6DW7 , 6DWD , 6DWJ , 6DWK , 6TX0 , 6TXA , 6TXC , 6TXE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07647	SAM_2	42 → 108	SAM domain (Sterile alpha motif)	Domain
PF01966	HD	164 → 319	HD domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in heart, skeletal muscle, spleen, liver, small intestine, placenta, lung and peripheral blood leukocytes (PubMed:11064105). No expression is seen in brain and thymus (PubMed:11064105). {ECO:0000269|PubMed:11064105}.

Sequence

MQRADSEQPSKRPRCDDSPRTPSNTPSAEADWSPGLELHPDYKTWGPEQVCSFLRRGGFE
EPVLLKNIRENEITGALLPCLDESRFENLGVSSLGERKKLLSYIQRLVQIHVDTMKVIND
PIHGHIELHPLLVRIIDTPQFQRLRYIKQLGGGYYVFPGASHNRFEHSLGVGYLAGCLVH
ALGEKQPELQISERDVLCVQIAGLCHDLGHGPFSHMFDGRFIPLARPEVKWTHEQGSVMM
FEHLINSNGIKPVMEQYGLIPEEDICFIKEQIVGPLESPVEDSLWPYKGRPENKSFLYEI
VSNKRNGIDVDKWDYFARDCHHLGIQNNFDYKRFIKFARVCEVDNELRICARDKEVGNLY
DMFHTRNSLHRRAYQHKVGNIIDTMITDAFLKADDYIEITGAGGKKYRISTAIDDMEAYT
KLTDNIFLEILYSTDPKLKDAREILKQIEYRNLFKYVGETQPTGQIKIKREDYESLPKEV
ASAKPKVLLDVKLKAEDFIVDVINMDYGMQEKNPIDHVSFYCKTAPNRAIRITKNQVSQL
LPEKFAEQLIRVYCKKVDRKSLYAARQYFVQWCADRNFTKPQDGDVIAPLITPQKKEWND
STSVQNPTRLREASKSRVQLFKDDPM

Sequence length

626

Interactions

View interactions

	KEGG		Reactome
	Viral life cycle - HIV-1 Cytosolic DNA-sensing pathway Human immunodeficiency virus 1 infection		Nucleobase catabolism Interferon alpha/beta signaling

1010

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aicardi Goutieres syndrome	Likely pathogenic; Pathogenic	rs1192315307, rs2148355967, rs773852483, rs121434517, rs267607027, rs559553527, rs2515229076, rs138603088, rs774964432, rs768409471, rs149846637	RCV001831349 RCV005607044 RCV002282901 RCV001826413 RCV001831512 RCV003226811 RCV003226812 RCV000825545 RCV003323661 RCV001830789 RCV002509198
Aicardi-Goutieres syndrome 5	Likely pathogenic; Pathogenic	rs1990238054, rs515726143, rs2146117027, rs1192315307, rs1601113209, rs2148359769, rs2148360598, rs2063399418, rs1328663348, rs759706198, rs139804668, rs369587937, rs515726141, rs369035155, rs515726146 View all (90 more)	RCV001324379 RCV001334862 RCV001378132 RCV001378011 RCV001384083 RCV001381077 RCV001383684 RCV001389856 RCV001384991 RCV001387841 RCV001389810 RCV000114347 RCV000114348 RCV000114352 RCV000114354 RCV002008088 RCV001897829 RCV001985834 RCV001948050 RCV001976447 RCV002013399 RCV001976673 RCV002000228 RCV001942134 RCV001942237 RCV001995733 RCV001943029 RCV001990395 RCV001915500 RCV002037938 RCV001972486 RCV001942326 RCV001942341 RCV001872377 RCV001951300 RCV001959037 RCV001963130 RCV001920261 RCV003502616 RCV003041386 RCV000004281 RCV000004282 RCV000004284 RCV000004285 RCV000004286 RCV000004287 RCV002663454 RCV002856939 RCV002875869 RCV002889278 RCV002914469 RCV002914843 RCV002942877 RCV002928779 RCV003021567 RCV003021649 RCV003043708 RCV003053578 RCV003044059 RCV005099800 RCV003225620 RCV003502795 RCV003503754 RCV003502285 RCV003503054 RCV003503046 RCV003503121 RCV003503209 RCV003503997 RCV003609306 RCV003609556 RCV003610141 RCV003610377 RCV003608672 RCV003608734 RCV003608848 RCV003608987 RCV003609056 RCV003609021 RCV003610505 RCV003821001 RCV003820382 RCV003839493 RCV003855638 RCV003866958 RCV003867172 RCV000023577 RCV000023578 RCV001242221 RCV000705432 RCV000723336 RCV000816971 RCV000791952 RCV000816561 RCV000791724 RCV000799060 RCV000985137 RCV000985138 RCV001051042 RCV001042421 RCV001067942 RCV001064679 RCV001389675 RCV001217916 RCV001213659 RCV001245426
Cerebral palsy	Pathogenic	rs1684124082	RCV001293275
Chilblain lupus 2	Likely pathogenic; Pathogenic	rs139804668, rs515726141, rs2146127849, rs750807433, rs773852483, rs121434517, rs267607027, rs121434519, rs2515244609, rs138603088, rs774964432, rs768409471, rs1335417539, rs752442185, rs768019897, rs1300333132 View all (1 more)	RCV002499817 RCV005031599 RCV005025623 RCV005025518 RCV005025761 RCV002476923 RCV005025003 RCV005031386 RCV005030194 RCV000023579 RCV005034227 RCV002495159 RCV002478901 RCV005029464 RCV005029544 RCV005029660
Melanoma	Likely pathogenic	rs1990238054, rs764423616	RCV005911047 RCV005934640
Multiple myeloma	Likely pathogenic	rs1600394490	RCV000984113
SAMHD1-related disorder	Pathogenic; Likely pathogenic	rs515726141, rs2515258417, rs2515286035	RCV004739368 RCV003335964 RCV004552452

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Uncertain significance	rs765062025	RCV005930396
See cases	Uncertain significance	rs1443109791	RCV002252958

Show/Hide Text Mining Associations (95)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acquired Immunodeficiency Syndrome	Associate	35610016
Acute Retroviral Syndrome	Associate	23880768, 27566548, 29321329
Acute Retroviral Syndrome	Inhibit	30305425
Aicardi Goutieres syndrome	Associate	19525956, 20131292, 20653736, 20842748, 21102625, 21613998, 22174685, 22530776, 22972397, 23092122, 23364794, 23592335, 24035396, 24183309, 24335234 View all (25 more)
Aicardi Goutieres syndrome 5	Associate	30275001, 36115319, 36311265
Aicardi Syndrome	Associate	40442339
AIDS Arteritis Central Nervous System	Associate	20653736
Aneurysm	Associate	20653736
Arthritis	Associate	21402907
Atherosclerosis	Associate	26504826
Autoimmune Diseases	Associate	22174685, 24335234, 27775344, 27909056, 32576829
Autoimmune Diseases	Inhibit	23364794, 24445253
Brain Diseases	Associate	21613998, 24989684, 28229507, 36311265
Breast Neoplasms	Associate	35023831
Carcinogenesis	Associate	39245738
Carcinoma Hepatocellular	Associate	29782647
Carcinoma Renal Cell	Associate	37009792
Carotid Stenosis	Associate	20653736
Cerebral Hemorrhage	Associate	20653736
Cerebrovascular Disorders	Associate	38041217
Chemical and Drug Induced Liver Injury	Associate	33445189
Chilblain lupus 1	Associate	32293470
Chilblains	Associate	20653736
Classical Lissencephalies and Subcortical Band Heterotopias	Associate	26121641
Cognition Disorders	Associate	35666053
Colorectal Neoplasms	Associate	34492268
Constriction Pathologic	Associate	20842748, 40442339
COVID 19	Associate	34824360
Cytokine Release Syndrome	Inhibit	36845138
De Lange Syndrome	Associate	39871364
Deoxyguanosine Kinase Deficiency	Associate	26342080
Drug Related Side Effects and Adverse Reactions	Associate	34641952
Endometrial Neoplasms	Associate	39394602
Genetic Diseases Inborn	Associate	22530776
Glucosephosphate Dehydrogenase Deficiency	Inhibit	28053103
Glutamate Monosodium Sensitivity	Associate	35610016
Hereditary Autoinflammatory Diseases	Associate	29959219, 30275001, 36115319
Hereditary Sensory and Autonomic Neuropathies	Associate	30273369
HIV Infections	Associate	22589553, 23092122, 23497283, 23880768, 25038827, 26559763, 27183329, 29515139, 30355686, 31867020, 32828803, 33563288, 35412343, 35610016, 36114511
HIV Infections	Inhibit	25890101
HTLV I Infections	Associate	22174685, 27922067
HTLV I Infections	Inhibit	25392215
Huntington Disease	Associate	23364794, 31914403
Hypersensitivity Immediate	Associate	25278816
Immune System Diseases	Associate	21402907
Infections	Associate	21613998, 24554663, 25038827, 29515139, 35412343, 37009792
Infections	Inhibit	23158101
Inflammation	Associate	20653736, 20842748, 21402907, 24445253, 31914403, 33177202, 37328105
Intracranial Arteriosclerosis	Associate	26504826
Leukemia	Associate	24335234, 34492268, 35439288
Leukemia B Cell	Associate	32581304
Leukemia Lymphocytic Chronic B Cell	Associate	24335234, 26294762, 27060156
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	32828803
Leukemia Myeloid Acute	Associate	30305425, 30341277, 32708452, 35803902, 36689724
Leukemia Plasma Cell	Associate	35770320
Leukemia Prolymphocytic T Cell	Associate	28584254, 29352181
Leukemia T Cell	Associate	34641952
Lupus Erythematosus Systemic	Associate	24445253, 37213666
Lupus Nephritis	Associate	37213666
Lymphoma Large B Cell Diffuse	Associate	37781035
Lymphoma Mantle Cell	Associate	32584970, 34738194
Lymphoma T Cell Cutaneous	Inhibit	27929746
Melanoma Cutaneous Malignant	Associate	32639949
Migraine Disorders	Associate	21402907
Mitral Valve Insufficiency	Associate	38041217
Mitral Valve Stenosis	Associate	38041217
Mouth Neoplasms	Stimulate	39245738
Moyamoya Disease	Associate	20653736, 38041217, 40442339
Neonatal herpes	Inhibit	30305425
Neoplasms	Associate	27775344, 28834754, 29970450, 30305425, 32511795, 32576829, 32639949, 34492268, 34738194, 35670736, 36845138, 37009792, 39194246, 39261734, 39394602
Neoplasms	Inhibit	29352181, 33857133, 35770320
Neoplasms	Stimulate	37781035
Neoplastic Syndromes Hereditary	Associate	32511795
Neurodegenerative Diseases	Associate	30275001, 35666053, 36115319
Neurologic Manifestations	Associate	28229507
Optic Neuropathy Ischemic	Associate	40442339
Ovarian Diseases	Associate	39261734
Ovarian Neoplasms	Associate	36845138
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	32581304, 34641952
Renal Artery Obstruction	Associate	20842748
Rupture	Associate	38041217
Seizures	Associate	38368708
Sezary Syndrome	Inhibit	27889686
Simian Acquired Immunodeficiency Syndrome	Associate	23880768
Splenic Neoplasms	Associate	35610016
Stomach Neoplasms	Inhibit	35670736
Stroke	Associate	20842748, 21402907, 26504826
Systemic Inflammatory Response Syndrome	Associate	36311265
Ulcer	Associate	20653736
Vasculitis	Associate	20842748
Vasculopathy Retinal With Cerebral Leukodystrophy	Associate	20653736, 21402907
Virus Diseases	Associate	21613998, 31914403, 33177202, 37328105
Virus Diseases	Inhibit	32576829
Visceral myopathy familial external ophthalmoplegia	Associate	26342080, 35023831
Werner Syndrome	Associate	24989684

SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)