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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79947
Gene name Gene Name - the full gene name approved by the HGNC.	Dehydrodolichyl diphosphate synthase subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DHDDS
Synonyms (NCBI Gene) Gene synonyms aliases	CIT, CPT, DEDSM, DS, HDS, RP59, hCIT
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p36.11
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with r

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SNP ID	Visualize variation	Clinical significance	Consequence
rs147394623	A>G	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs754564043	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs764831063	A>G	Pathogenic	Intron variant
rs1229969030	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553121073	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1553121545	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1553122926	G>A	Pathogenic	Coding sequence variant, missense variant
rs1557447255	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1570332505	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant

Show/Hide all(306)

miRTarBase ID	miRNA	Experiments	Reference
MIRT704247	hsa-miR-5008-5p	HITS-CLIP	23313552
MIRT704246	hsa-miR-6089	HITS-CLIP	23313552
MIRT704245	hsa-miR-6804-5p	HITS-CLIP	23313552
MIRT704244	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT704243	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT704242	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT704241	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT704240	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT704239	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT704238	hsa-miR-4710	HITS-CLIP	23313552
MIRT704236	hsa-miR-4316	HITS-CLIP	23313552
MIRT704237	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT704235	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT704233	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT704234	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT704232	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT704231	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT704230	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT704229	hsa-miR-3689c	HITS-CLIP	23313552
MIRT704228	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT704227	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT704226	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT704225	hsa-miR-3122	HITS-CLIP	23313552
MIRT704224	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT704223	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT704222	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT704247	hsa-miR-5008-5p	HITS-CLIP	23313552
MIRT704246	hsa-miR-6089	HITS-CLIP	23313552
MIRT704245	hsa-miR-6804-5p	HITS-CLIP	23313552
MIRT704244	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT704243	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT704242	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT704241	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT704240	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT704239	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT704238	hsa-miR-4710	HITS-CLIP	23313552
MIRT704236	hsa-miR-4316	HITS-CLIP	23313552
MIRT704237	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT704235	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT704233	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT704234	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT704232	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT704231	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT704230	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT704229	hsa-miR-3689c	HITS-CLIP	23313552
MIRT704228	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT704227	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT704226	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT704225	hsa-miR-3122	HITS-CLIP	23313552
MIRT704224	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT704223	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT704222	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT934611	hsa-miR-1236	CLIP-seq
MIRT934612	hsa-miR-125a-5p	CLIP-seq
MIRT934613	hsa-miR-125b	CLIP-seq
MIRT934614	hsa-miR-146a	CLIP-seq
MIRT934615	hsa-miR-146b-5p	CLIP-seq
MIRT934616	hsa-miR-15a	CLIP-seq
MIRT934617	hsa-miR-15b	CLIP-seq
MIRT934618	hsa-miR-16	CLIP-seq
MIRT934619	hsa-miR-1915	CLIP-seq
MIRT934620	hsa-miR-195	CLIP-seq
MIRT934621	hsa-miR-3158-3p	CLIP-seq
MIRT934622	hsa-miR-3194-3p	CLIP-seq
MIRT934623	hsa-miR-3651	CLIP-seq
MIRT934624	hsa-miR-3664-3p	CLIP-seq
MIRT934625	hsa-miR-424	CLIP-seq
MIRT934626	hsa-miR-4300	CLIP-seq
MIRT934627	hsa-miR-4319	CLIP-seq
MIRT934628	hsa-miR-4433	CLIP-seq
MIRT934629	hsa-miR-4446-3p	CLIP-seq
MIRT934630	hsa-miR-4459	CLIP-seq
MIRT934631	hsa-miR-4514	CLIP-seq
MIRT934632	hsa-miR-4528	CLIP-seq
MIRT934633	hsa-miR-4645-5p	CLIP-seq
MIRT934634	hsa-miR-4662a-5p	CLIP-seq
MIRT934635	hsa-miR-4673	CLIP-seq
MIRT934636	hsa-miR-4680-5p	CLIP-seq
MIRT934637	hsa-miR-4692	CLIP-seq
MIRT934638	hsa-miR-4716-3p	CLIP-seq
MIRT934639	hsa-miR-4723-5p	CLIP-seq
MIRT934640	hsa-miR-4726-3p	CLIP-seq
MIRT934641	hsa-miR-4732-3p	CLIP-seq
MIRT934642	hsa-miR-4768-3p	CLIP-seq
MIRT934643	hsa-miR-4778-5p	CLIP-seq
MIRT934644	hsa-miR-497	CLIP-seq
MIRT934645	hsa-miR-670	CLIP-seq
MIRT934646	hsa-miR-760	CLIP-seq
MIRT934647	hsa-miR-765	CLIP-seq
MIRT934648	hsa-miR-920	CLIP-seq
MIRT934649	hsa-miR-922	CLIP-seq
MIRT934650	hsa-miR-1207-5p	CLIP-seq
MIRT934651	hsa-miR-1231	CLIP-seq
MIRT934652	hsa-miR-1273f	CLIP-seq
MIRT934653	hsa-miR-1278	CLIP-seq
MIRT934654	hsa-miR-129-3p	CLIP-seq
MIRT934655	hsa-miR-1301	CLIP-seq
MIRT934656	hsa-miR-143	CLIP-seq
MIRT934657	hsa-miR-147	CLIP-seq
MIRT934658	hsa-miR-187	CLIP-seq
MIRT934659	hsa-miR-2355-5p	CLIP-seq
MIRT934660	hsa-miR-24	CLIP-seq
MIRT934661	hsa-miR-3124-3p	CLIP-seq
MIRT934662	hsa-miR-3128	CLIP-seq
MIRT934663	hsa-miR-3132	CLIP-seq
MIRT934621	hsa-miR-3158-3p	CLIP-seq
MIRT934664	hsa-miR-3183	CLIP-seq
MIRT934622	hsa-miR-3194-3p	CLIP-seq
MIRT934665	hsa-miR-3616-3p	CLIP-seq
MIRT934666	hsa-miR-3622b-5p	CLIP-seq
MIRT934623	hsa-miR-3651	CLIP-seq
MIRT934667	hsa-miR-3692	CLIP-seq
MIRT934668	hsa-miR-3911	CLIP-seq
MIRT934669	hsa-miR-4258	CLIP-seq
MIRT934670	hsa-miR-4276	CLIP-seq
MIRT934671	hsa-miR-4283	CLIP-seq
MIRT934672	hsa-miR-4284	CLIP-seq
MIRT934673	hsa-miR-4318	CLIP-seq
MIRT934628	hsa-miR-4433	CLIP-seq
MIRT934674	hsa-miR-4436a	CLIP-seq
MIRT934675	hsa-miR-4436b-3p	CLIP-seq
MIRT934629	hsa-miR-4446-3p	CLIP-seq
MIRT934676	hsa-miR-4451	CLIP-seq
MIRT934630	hsa-miR-4459	CLIP-seq
MIRT934677	hsa-miR-4486	CLIP-seq
MIRT934678	hsa-miR-450b-5p	CLIP-seq
MIRT934632	hsa-miR-4528	CLIP-seq
MIRT934679	hsa-miR-4649-5p	CLIP-seq
MIRT934680	hsa-miR-4659a-5p	CLIP-seq
MIRT934681	hsa-miR-4659b-5p	CLIP-seq
MIRT934682	hsa-miR-4693-5p	CLIP-seq
MIRT934683	hsa-miR-4708-5p	CLIP-seq
MIRT934684	hsa-miR-4720-5p	CLIP-seq
MIRT934685	hsa-miR-4721	CLIP-seq
MIRT934686	hsa-miR-4723-3p	CLIP-seq
MIRT934687	hsa-miR-4731-3p	CLIP-seq
MIRT934688	hsa-miR-4731-5p	CLIP-seq
MIRT934689	hsa-miR-4749-3p	CLIP-seq
MIRT934690	hsa-miR-4751	CLIP-seq
MIRT934691	hsa-miR-4763-3p	CLIP-seq
MIRT934642	hsa-miR-4768-3p	CLIP-seq
MIRT934692	hsa-miR-4770	CLIP-seq
MIRT934693	hsa-miR-4773	CLIP-seq
MIRT934694	hsa-miR-4776-3p	CLIP-seq
MIRT934695	hsa-miR-4778-3p	CLIP-seq
MIRT934696	hsa-miR-4786-5p	CLIP-seq
MIRT934697	hsa-miR-4792	CLIP-seq
MIRT934698	hsa-miR-4799-3p	CLIP-seq
MIRT934699	hsa-miR-4801	CLIP-seq
MIRT934700	hsa-miR-5047	CLIP-seq
MIRT934701	hsa-miR-507	CLIP-seq
MIRT934702	hsa-miR-513c	CLIP-seq
MIRT934703	hsa-miR-514b-5p	CLIP-seq
MIRT934704	hsa-miR-541	CLIP-seq
MIRT934705	hsa-miR-557	CLIP-seq
MIRT934706	hsa-miR-644	CLIP-seq
MIRT934707	hsa-miR-654-5p	CLIP-seq
MIRT934646	hsa-miR-760	CLIP-seq
MIRT934708	hsa-miR-766	CLIP-seq
MIRT934709	hsa-miR-892a	CLIP-seq
MIRT1976712	hsa-miR-10a	CLIP-seq
MIRT1976713	hsa-miR-10b	CLIP-seq
MIRT1976714	hsa-miR-124	CLIP-seq
MIRT934652	hsa-miR-1273f	CLIP-seq
MIRT1976715	hsa-miR-2467-3p	CLIP-seq
MIRT1976716	hsa-miR-4419a	CLIP-seq
MIRT1976717	hsa-miR-4510	CLIP-seq
MIRT1976718	hsa-miR-500a	CLIP-seq
MIRT1976719	hsa-miR-506	CLIP-seq
MIRT1976720	hsa-miR-548an	CLIP-seq
MIRT934708	hsa-miR-766	CLIP-seq
MIRT2212024	hsa-miR-1197	CLIP-seq
MIRT1976714	hsa-miR-124	CLIP-seq
MIRT2212025	hsa-miR-1321	CLIP-seq
MIRT2212026	hsa-miR-185	CLIP-seq
MIRT934619	hsa-miR-1915	CLIP-seq
MIRT1976715	hsa-miR-2467-3p	CLIP-seq
MIRT934663	hsa-miR-3132	CLIP-seq
MIRT2212027	hsa-miR-3153	CLIP-seq
MIRT2212028	hsa-miR-3190	CLIP-seq
MIRT2212029	hsa-miR-3202	CLIP-seq
MIRT2212030	hsa-miR-3662	CLIP-seq
MIRT2212031	hsa-miR-3927	CLIP-seq
MIRT2212032	hsa-miR-4306	CLIP-seq
MIRT1976716	hsa-miR-4419a	CLIP-seq
MIRT934676	hsa-miR-4451	CLIP-seq
MIRT2212033	hsa-miR-4475	CLIP-seq
MIRT1976717	hsa-miR-4510	CLIP-seq
MIRT934631	hsa-miR-4514	CLIP-seq
MIRT2212034	hsa-miR-4533	CLIP-seq
MIRT2212035	hsa-miR-4644	CLIP-seq
MIRT2212036	hsa-miR-4661-5p	CLIP-seq
MIRT934637	hsa-miR-4692	CLIP-seq
MIRT2212037	hsa-miR-4699-3p	CLIP-seq
MIRT934638	hsa-miR-4716-3p	CLIP-seq
MIRT934639	hsa-miR-4723-5p	CLIP-seq
MIRT934640	hsa-miR-4726-3p	CLIP-seq
MIRT2212038	hsa-miR-4732-5p	CLIP-seq
MIRT2212039	hsa-miR-4739	CLIP-seq
MIRT2212040	hsa-miR-4756-5p	CLIP-seq
MIRT2212041	hsa-miR-4762-5p	CLIP-seq
MIRT1976718	hsa-miR-500a	CLIP-seq
MIRT1976719	hsa-miR-506	CLIP-seq
MIRT934704	hsa-miR-541	CLIP-seq
MIRT1976720	hsa-miR-548an	CLIP-seq
MIRT2212042	hsa-miR-605	CLIP-seq
MIRT934707	hsa-miR-654-5p	CLIP-seq
MIRT934649	hsa-miR-922	CLIP-seq
MIRT934661	hsa-miR-3124-3p	CLIP-seq
MIRT934667	hsa-miR-3692	CLIP-seq
MIRT934695	hsa-miR-4778-3p	CLIP-seq
MIRT2465181	hsa-miR-1252	CLIP-seq
MIRT2465182	hsa-miR-3185	CLIP-seq
MIRT2465183	hsa-miR-4694-3p	CLIP-seq
MIRT2515788	hsa-miR-1282	CLIP-seq
MIRT2515789	hsa-miR-135a	CLIP-seq
MIRT2515790	hsa-miR-135b	CLIP-seq
MIRT2515791	hsa-miR-1468	CLIP-seq
MIRT934619	hsa-miR-1915	CLIP-seq
MIRT934659	hsa-miR-2355-5p	CLIP-seq
MIRT934621	hsa-miR-3158-3p	CLIP-seq
MIRT2515792	hsa-miR-3176	CLIP-seq
MIRT934622	hsa-miR-3194-3p	CLIP-seq
MIRT2515793	hsa-miR-3591-3p	CLIP-seq
MIRT2515794	hsa-miR-3620	CLIP-seq
MIRT934623	hsa-miR-3651	CLIP-seq
MIRT934624	hsa-miR-3664-3p	CLIP-seq
MIRT2515795	hsa-miR-3922-3p	CLIP-seq
MIRT934669	hsa-miR-4258	CLIP-seq
MIRT934671	hsa-miR-4283	CLIP-seq
MIRT934628	hsa-miR-4433	CLIP-seq
MIRT2515796	hsa-miR-4435	CLIP-seq
MIRT934675	hsa-miR-4436b-3p	CLIP-seq
MIRT934629	hsa-miR-4446-3p	CLIP-seq
MIRT934630	hsa-miR-4459	CLIP-seq
MIRT934631	hsa-miR-4514	CLIP-seq
MIRT934632	hsa-miR-4528	CLIP-seq
MIRT934633	hsa-miR-4645-5p	CLIP-seq
MIRT934635	hsa-miR-4673	CLIP-seq
MIRT2515797	hsa-miR-4690-3p	CLIP-seq
MIRT934637	hsa-miR-4692	CLIP-seq
MIRT934640	hsa-miR-4726-3p	CLIP-seq
MIRT934689	hsa-miR-4749-3p	CLIP-seq
MIRT2515798	hsa-miR-4760-3p	CLIP-seq
MIRT2515799	hsa-miR-4761-3p	CLIP-seq
MIRT934642	hsa-miR-4768-3p	CLIP-seq
MIRT2515800	hsa-miR-490-3p	CLIP-seq
MIRT2515801	hsa-miR-5096	CLIP-seq
MIRT2515802	hsa-miR-545	CLIP-seq
MIRT2515803	hsa-miR-548m	CLIP-seq
MIRT2515804	hsa-miR-574-3p	CLIP-seq
MIRT2515805	hsa-miR-637	CLIP-seq
MIRT2515806	hsa-miR-661	CLIP-seq
MIRT2515807	hsa-miR-664	CLIP-seq
MIRT934646	hsa-miR-760	CLIP-seq
MIRT934708	hsa-miR-766	CLIP-seq
MIRT2515808	hsa-miR-944	CLIP-seq
MIRT934652	hsa-miR-1273f	CLIP-seq
MIRT2515788	hsa-miR-1282	CLIP-seq
MIRT2515789	hsa-miR-135a	CLIP-seq
MIRT2515790	hsa-miR-135b	CLIP-seq
MIRT934656	hsa-miR-143	CLIP-seq
MIRT2515791	hsa-miR-1468	CLIP-seq
MIRT934619	hsa-miR-1915	CLIP-seq
MIRT934659	hsa-miR-2355-5p	CLIP-seq
MIRT934621	hsa-miR-3158-3p	CLIP-seq
MIRT2515792	hsa-miR-3176	CLIP-seq
MIRT934622	hsa-miR-3194-3p	CLIP-seq
MIRT2515793	hsa-miR-3591-3p	CLIP-seq
MIRT2679252	hsa-miR-361-5p	CLIP-seq
MIRT2515794	hsa-miR-3620	CLIP-seq
MIRT934623	hsa-miR-3651	CLIP-seq
MIRT934624	hsa-miR-3664-3p	CLIP-seq
MIRT2515795	hsa-miR-3922-3p	CLIP-seq
MIRT934669	hsa-miR-4258	CLIP-seq
MIRT934671	hsa-miR-4283	CLIP-seq
MIRT934628	hsa-miR-4433	CLIP-seq
MIRT2515796	hsa-miR-4435	CLIP-seq
MIRT934675	hsa-miR-4436b-3p	CLIP-seq
MIRT934629	hsa-miR-4446-3p	CLIP-seq
MIRT934630	hsa-miR-4459	CLIP-seq
MIRT934631	hsa-miR-4514	CLIP-seq
MIRT934632	hsa-miR-4528	CLIP-seq
MIRT934633	hsa-miR-4645-5p	CLIP-seq
MIRT934635	hsa-miR-4673	CLIP-seq
MIRT2679253	hsa-miR-4687-3p	CLIP-seq
MIRT2515797	hsa-miR-4690-3p	CLIP-seq
MIRT934637	hsa-miR-4692	CLIP-seq
MIRT934683	hsa-miR-4708-5p	CLIP-seq
MIRT934640	hsa-miR-4726-3p	CLIP-seq
MIRT934689	hsa-miR-4749-3p	CLIP-seq
MIRT2515798	hsa-miR-4760-3p	CLIP-seq
MIRT2515799	hsa-miR-4761-3p	CLIP-seq
MIRT934642	hsa-miR-4768-3p	CLIP-seq
MIRT934692	hsa-miR-4770	CLIP-seq
MIRT2515800	hsa-miR-490-3p	CLIP-seq
MIRT2515801	hsa-miR-5096	CLIP-seq
MIRT2515802	hsa-miR-545	CLIP-seq
MIRT2515803	hsa-miR-548m	CLIP-seq
MIRT2515804	hsa-miR-574-3p	CLIP-seq
MIRT2515805	hsa-miR-637	CLIP-seq
MIRT2515806	hsa-miR-661	CLIP-seq
MIRT2515807	hsa-miR-664	CLIP-seq
MIRT934646	hsa-miR-760	CLIP-seq
MIRT934708	hsa-miR-766	CLIP-seq
MIRT2515808	hsa-miR-944	CLIP-seq

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004659	Function	Prenyltransferase activity	IDA	25066056
GO:0005515	Function	Protein binding	IPI	15110773, 32817466, 33961781
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	14652022
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	32817466
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0006489	Process	Dolichyl diphosphate biosynthetic process	IDA	28842490, 32817466, 33077723
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016094	Process	Polyprenol biosynthetic process	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0016765	Function	Transferase activity, transferring alkyl or aryl (other than methyl) groups	IEA
GO:0043048	Process	Dolichyl monophosphate biosynthetic process	IDA	28842490
GO:0045547	Function	Ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	IBA
GO:0045547	Function	Ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	IDA	28842490
GO:0045547	Function	Ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	IDA	33077723
GO:0045547	Function	Ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1904423	Component	Dehydrodolichyl diphosphate synthase complex	IBA
GO:1904423	Component	Dehydrodolichyl diphosphate synthase complex	IDA	28842490
GO:1904423	Component	Dehydrodolichyl diphosphate synthase complex	IPI	32817466

MIM	HGNC	e!Ensembl
608172	20603	ENSG00000117682

Protein

UniProt ID

Q86SQ9

Protein name

Dehydrodolichyl diphosphate synthase complex subunit DHDDS (EC 2.5.1.87) (Cis-isoprenyltransferase) (CIT) (Cis-IPTase) (Cis-prenyltransferase subunit hCIT) (Epididymis tissue protein Li 189m)

Protein function

With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery (PubMed:25066056, PubMed:28842490, PubMed:32817466, PubMed:33077723). Both subunits cont

PDB

6W2L , 6Z1N , 7PAX , 7PAY , 7PB0 , 7PB1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01255	Prenyltransf	32 → 255	Putative undecaprenyl diphosphate synthase	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous (PubMed:21295282). Expressed at high levels in testis and kidney (PubMed:20736409). Expressed in epididymis (at protein level) (PubMed:20736409). {ECO:0000269|PubMed:20736409, ECO:0000269|PubMed:21295282}.

Sequence

MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAE
TLRWCLNLGILEVTVYAFSIENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRV
LGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDP
SDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNL
FEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLLREGLQASGDAQLRRTRLH
KLSARREERVQGFLQALELKRADWLARLGTASA

Sequence length

333

Interactions

View interactions

	KEGG		Reactome
	Terpenoid backbone biosynthesis		Synthesis of Dolichyl-phosphate Defective DHDDS causes retinitis pigmentosa 59

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental delay	developmental delay and seizures with or without movement abnormalities	rs1557447255, rs1570332505, rs1553121073, rs1553122926	N/A
Retinitis Pigmentosa	retinitis pigmentosa 59, retinitis pigmentosa	rs1553122926, rs764831063, rs1557447255, rs147394623, rs1553121073	N/A
Congenital disorder of glycosylation	Congenital disorder of glycosylation, type Ibb	rs1553121545, rs764831063	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Epileptic encephalopathy	undetermined early-onset epileptic encephalopathy	N/A	N/A	GenCC
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Ataxia	Associate	34275143, 34382076
Blindness	Associate	28809830
Cognition Disorders	Associate	34382076
Cone Dystrophy	Associate	38256083
Congenital Disorders of Glycosylation	Associate	37356182
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	40003936
Developmental Disabilities	Associate	34275143, 34382076, 37356182, 40003936
Dysarthria	Associate	34382076
Dyskinesia Drug Induced	Associate	37356182
Epilepsies Myoclonic	Associate	37356182
Epilepsy	Associate	34382076, 37356182, 40003936
Epilepsy Generalized	Associate	34382076
Epilepsy Myoclonic Benign Adult Familial Type 1	Associate	34382076
Hyperkinesis	Associate	34382076
Intellectual Disability	Associate	34275143, 37356182
Lysosomal Storage Diseases	Associate	34382076
Mental Disorders	Associate	34382076
Motor Disorders	Associate	37356182, 40003936
Movement Disorders	Associate	34382076
Muscle Hypertonia	Associate	34275143
Myoclonic Epilepsies Progressive	Associate	34382076
Myoclonus	Associate	34382076, 37356182
Myopathies Nemaline	Associate	38256083
Nerve Degeneration	Associate	28130426
Neurodegenerative Diseases	Associate	34382076
Neurologic Manifestations	Associate	34382076
Neuronal Ceroid Lipofuscinoses	Associate	34382076
Niemann Pick Disease Type C	Associate	40003936
Refsum Disease Infantile	Associate	38256083
Retinal Degeneration	Associate	28130426, 38256083
Retinitis Pigmentosa	Associate	24078709, 25255364, 28809830, 34382076, 37356182
Seizures	Associate	34275143, 37356182
Status Epilepticus	Associate	34275143
Tremor	Associate	34275143

DHDDS (dehydrodolichyl diphosphate synthase subunit)