DHDDS - dehydrodolichyl diphosphate synthase subunit Gene

Also Known as DS; CIT; CPT; HDS; RP59; hCIT; DEDSM

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79947

About DHDDS

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:26,432,321-26,471,306 (from NCBI)

This gene has 34 transcripts (splice variants), 211 orthologues and is associated with 6 phenotypes. Ubiquitous expression in fat (RPKM 22.0), colon (RPKM 11.7) and 24 other tissues.

Summary

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 retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

DHDDS Products (5)

mRNA	Protein	Name
NM_001243564.2	NP_001230493.1	dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 3
NM_001243565.2	NP_001230494.1	dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 4
NM_001319959.2	NP_001306888.1	dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 5
NM_024887.4	NP_079163.2	dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 2
NM_205861.3	NP_995583.1	dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
contributes to dehydrodolichyl diphosphate synthase activity	IDA IDA: Inferred from direct assay	28842490	GOA
enables dehydrodolichyl diphosphate synthase activity	IDA IDA: Inferred from direct assay	33077723	GOA
contributes to polyprenyltransferase activity	IDA IDA: Inferred from direct assay	25066056	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15110773	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in dolichyl diphosphate biosynthetic process	IDA IDA: Inferred from direct assay	28842490	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of dehydrodolichyl diphosphate synthase complex	IDA IDA: Inferred from direct assay	28842490	GOA
part of dehydrodolichyl diphosphate synthase complex	IPI IPI: Inferred from physical interaction	32817466	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DHDDS Protein Structure

Prenyltransf

0
100
200
300
333 a.a.

Protein Preferred Names	Protein Names
dehydrodolichyl diphosphate synthase complex subunit DHDDS	cis-IPTase

DHDDS Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	DHDDS	Q86SQ9	NUS1	Homo sapiens	Q96E22	Anti Tag CoIP	33961781
Intra	DHDDS	Q86SQ9	NUS1	Homo sapiens	Q96E22	X-Ray Diffraction	32817466
Intra	DHDDS	Q86SQ9	NUS1	Homo sapiens	Q96E22	GMS	32817466
Intra	DHDDS	Q86SQ9	NUS1	Homo sapiens	Q96E22	Anti Tag CoIP	32817466

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 59	RP59 Congenital Disorder Of Glycosylation, Type 1bb Congenital Disorder Of Glycosylation 1bb CDG1BB Retinitis Pigmentosa, Type 59
Developmental Delay And Seizures With Or Without Movement Abnormalities	DEDSM Developmental Delay And Seizures, With/Without Movement Abnormalities
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Non-Specific Early-Onset Epileptic Encephalopathy	Undetermined Early-Onset Epileptic Encephalopathy Non-Specific Eoee Undetermined Eoee
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Congenital Disorder Of Glycosylation, Type Im	Dolichol Kinase Deficiency CDG1M Dk1 Deficiency Cdg Im Cdgim Congenital Disorder Of Glycosylation Im Congenital Disorder Of Glycosylation 1m Dolk-Congenital Disorder Of Glycosylation Dk1-Cdg Cdg-Im Congenital Disorder Of Glycosylation Type Im Cdg Syndrome Type Im Carbohydrate Deficient Glycoprotein Syndrome Type Im Congenital Disorder Of Glycosylation Type 1m Hypotonia And Ichthyosis Due To Dolichol Phosphate Deficiency Glycosylation, Congenital Disorder Of, Type Im
Phosphoglycerate Dehydrogenase Deficiency	Phgdh Deficiency 3-Phosphoglycerate Dehydrogenase Deficiency PHGDHD 3-Pgdh Deficiency 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form Phgdh Deficiency, Infantile/Juvenile Form Deficiency, Phosphoglycerate Dehydrogenase
Coenzyme Q10 Deficiency, Primary, 9	COQ10D9 Primary Coenzyme Q10 Deficiency 9
Congenital Disorder Of Glycosylation, Type Iin	CDG2N Slc39a8-Cdg Cdg Iin Congenital Disorder Of Glycosylation Type Iin Cdgiin Carbohydrate Deficient Glycoprotein Syndrome Type Iin Cdg Syndrome Type Iin Congenital Disorder Of Glycosylation Type 2n Cdg-Iin Cdgiidn Slc39a8 Deficiency Congenital Disorder Of Glycosylation 2n Glycosylation, Congenital Disorder Of, Type Iin
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS03728	DHDDS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	DHDDS	VGNC	VGNC:39928
Felis catus	DHDDS	VGNC	VGNC:61467
Macaca mulatta	DHDDS	VGNC	VGNC:71686
Mus musculus	DHDDS	MGD	MGI:1914672
Rattus norvegicus	DHDDS	RGD	RGD:1311560
Bos taurus	DHDDS	VGNC	VGNC:28035
Others	DHDDS	NCBI