GenTIGS

Dehydrodolichyl diphosphate synthase subunit (DHDDS) Associated conditions: 1. Retinitis pigmentosa 2. Congenital disorder of glycosylation

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001243564.2	NP_001230493.1	NC_000001.11	(26432320..26471305)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001243565.2	NP_001230494.1	NC_000001.11	(26432320..26471305)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_001319959.2	NP_001306888.1	NC_000001.11	(26432320..26471305)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NM_024887.4	NP_079163.2	NC_000001.11	(26432320..26471305)	Reference GRCh38.p14 Primary Assembly	-
5	REVIEWED	NM_205861.3	NP_995583.1	NC_000001.11	(26432320..26471305)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 138 reference articles

Variant Information Dehydrodolichyl diphosphate synthase subunit (DHDDS) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Dehydrodolichyl diphosphate synthase subunit (DHDDS)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	contributes_to	prenyltransferase activity	Function	25066056
2	Homo sapiens	IPI	enables	protein binding	Function	15110773 32817466 33961781
3	Homo sapiens	IBA	is_active_in	endoplasmic reticulum	Component	-
4	Homo sapiens	IDA	is_active_in	endoplasmic reticulum membrane	Component	14652022
5	Homo sapiens	IEA	located_in	endoplasmic reticulum membrane	Component	-
6	Homo sapiens	NAS	located_in	endoplasmic reticulum membrane	Component	32817466
7	Homo sapiens	TAS	located_in	endoplasmic reticulum membrane	Component	-
8	Homo sapiens	IDA	involved_in	dolichyl diphosphate biosynthetic process	Process	32817466
9	Homo sapiens	IEA	involved_in	lipid metabolic process	Process	-
10	Homo sapiens	IBA	involved_in	polyprenol biosynthetic process	Process	-
11	Homo sapiens	IEA	enables	transferase activity	Function	-
12	Homo sapiens	IEA	enables	transferase activity, transferring alkyl or aryl (other than methyl) groups	Function	-
13	Homo sapiens	IDA	involved_in	dolichyl monophosphate biosynthetic process	Process	28842490 33077723
14	Homo sapiens	IBA	contributes_to	ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	Function	-
15	Homo sapiens	IDA	contributes_to	ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	Function	28842490
16	Homo sapiens	IDA	enables	ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	Function	33077723
17	Homo sapiens	IEA	enables	ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	Function	-
18	Homo sapiens	IEA	enables	metal ion binding	Function	-
19	Homo sapiens	IBA	part_of	dehydrodolichyl diphosphate synthase complex	Component	-
20	Homo sapiens	IDA	part_of	dehydrodolichyl diphosphate synthase complex	Component	28842490