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UniProtKB - Q86SQ9 (DHDDS_HUMAN)

Entry version 163 (23 Feb 2022)
Sequence version 3 (17 Oct 2006)
Previous versions | rss
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Protein

Dehydrodolichyl diphosphate synthase complex subunit DHDDS

Gene

DHDDS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) (PubMed:25066056, PubMed:28842490, PubMed:32817466).

Synthesizes long-chain polyprenols, mostly of C95 and C100 chain length (PubMed:32817466).

Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol (PubMed:21572394).

4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+2 PublicationsNote: Binds 1 magnesium ion per subunit.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by phospholipids including cardiolipin, phosphatidylcholine, phosphatidylethanolamine, phosphatidylinositol and phosphatidylserine.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

Values were measured with the heterodimer. kcat is 0.58 sec(-1) with (2E,6E)-farnesyl diphosphate and isopentenyl diphosphate as substrate.1 Publication
  1. KM=11.1 µM for isopentenyl diphosphate1 Publication
  2. KM=0.68 µM for (2E,6E)-farnesyl diphosphate1 Publication

pH dependencei

Optimum pH is 8-9. Active from pH 5.5 to 9.3.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.1 Publication
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

Pathwayi: Lipid metabolism

This protein is involved in Lipid metabolism.1 Publication
View all proteins of this organism that are known to be involved in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi34Magnesium1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei38Isopentenyl diphosphate1 Publication1
Binding sitei85Isopentenyl diphosphate1 Publication1
Binding sitei205Isopentenyl diphosphate1 Publication1
Binding sitei211Isopentenyl diphosphate1 Publication1
Binding sitei213Isopentenyl diphosphate1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase
Biological processLipid metabolism
LigandMagnesium, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.5.1.87, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q86SQ9

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-446199, Synthesis of Dolichyl-phosphate
R-HSA-4755609, Defective DHDDS causes retinitis pigmentosa 59

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q86SQ9

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00378

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Dehydrodolichyl diphosphate synthase complex subunit DHDDSCurated (EC:2.5.1.872 Publications)
Alternative name(s):
Cis-isoprenyltransferase1 Publication
Short name:
CIT1 Publication
Short name:
Cis-IPTase1 Publication
Cis-prenyltransferase subunit hCIT1 Publication
Epididymis tissue protein Li 189m
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DHDDS1 PublicationImported
Synonyms:HDS
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:20603, DHDDS

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608172, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q86SQ9

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000117682

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 59 (RP59)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06535642K → E in RP59; 5-fold reduction in catalytic activity and reduced affinity for FPP but not for IPP.. 2 PublicationsCorresponds to variant dbSNP:rs147394623EnsemblClinVar.1
Developmental delay and seizures with or without movement abnormalities (DEDSM)1 Publication
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08070837R → H in DEDSM; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553121073EnsemblClinVar.1
Natural variantiVAR_080709211R → Q in DEDSM; also found in a patient with progressive myoclonus epilepsy and developmental delay; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs1553122926EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi12W → A: Markedly decreases phosphatidylinositol-mediated activation of cis-prenyltransferase activity resulting in products with longer chain length; when associated with A-15 and A-19. 1 Publication1
Mutagenesisi15F → A: Markedly decreases phosphatidylinositol-mediated activation of cis-prenyltransferase activity resulting in products with longer chain length; when associated with A-12 and A-19. 1 Publication1
Mutagenesisi19I → A: Markedly decreases phosphatidylinositol-mediated activation of cis-prenyltransferase activity resulting in products with longer chain length; when associated with A-12 and A-15. 1 Publication1
Mutagenesisi106 – 109Missing : Affects chain elongation resulting in shorter products. 1 Publication4
Mutagenesisi306R → A: Delays cell growth; when associated with A-313 and A-317. 1 Publication1
Mutagenesisi313F → A: Delays cell growth; when associated with A-306 and A-317. 1 Publication1
Mutagenesisi317L → A: Delays cell growth; when associated with A-306 and A-313. 1 Publication1

Keywords - Diseasei

Disease variant, Epilepsy, Mental retardation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...DisGeNETi		79947

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		DHDDS

MalaCards human disease database

More...MalaCardsi		DHDDS
MIMi613861, phenotype
617836, phenotype

Open Targets

More...OpenTargetsi		ENSG00000117682

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		442835, Non-specific early-onset epileptic encephalopathy
791, Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134867119

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q86SQ9, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DHDDS

Domain mapping of disease mutations (DMDM)

More...DMDMi		116241329

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001237491 – 333Dehydrodolichyl diphosphate synthase complex subunit DHDDSAdd BLAST333

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q86SQ9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q86SQ9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q86SQ9

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q86SQ9

PeptideAtlas

More...PeptideAtlasi		Q86SQ9

PRoteomics IDEntifications database

More...PRIDEi		Q86SQ9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		6588
69620 [Q86SQ9-1]
69621 [Q86SQ9-2]
69622 [Q86SQ9-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q86SQ9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q86SQ9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed at high levels in testis and kidney. Expressed in epididymis (at protein level). Slightly expressed in heart, spleen and thymus.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000117682, Expressed in right hemisphere of cerebellum and 213 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q86SQ9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q86SQ9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000117682, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms an active dehydrodolichyl diphosphate synthase complex with NUS1 (PubMed:25066056, PubMed:28842490, PubMed:32817466).

Interacts with NPC2 (PubMed:21572394).

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123018, 10 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-6701, Dehydrodolichyl diphosphate synthase complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q86SQ9

Protein interaction database and analysis system

More...IntActi		Q86SQ9, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000353104

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q86SQ9, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1333
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Small Angle Scattering Biological Data Bank

More...SASBDBi		Q86SQ9

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q86SQ9

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The catalytic site at NUS1-DHDDS interface accomodates both the allylic and the homoallylic IPP substrates to the S1 and S2 pockets respectively. The beta-phosphate groups of IPP substrates form hydrogen bonds with the RXG motif of NUS1 and four conserved residues of DHDDS (Arg-85, Arg-205, Arg-211 and Ser-213), while the allylic isopentenyl group is pointed toward the hydrophobic tunnel of the S1 pocket where the product elongation occurs.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the UPP synthase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1602, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000007879

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q86SQ9

Identification of Orthologs from Complete Genome Data

More...OMAi		PRTEGHK

Database of Orthologous Groups

More...OrthoDBi		1362420at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q86SQ9

TreeFam database of animal gene trees

More...TreeFami		TF323753

Family and domain databases

Conserved Domains Database

More...CDDi		cd00475, Cis_IPPS, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.1180.10, 1 hit

HAMAP database of protein families

More...HAMAPi		MF_01139, ISPT, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001441, UPP_synth-like
IPR018520, UPP_synth-like_CS
IPR036424, UPP_synth-like_sf

The PANTHER Classification System

More...PANTHERi		PTHR10291, PTHR10291, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01255, Prenyltransf, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF64005, SSF64005, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00055, uppS, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01066, UPP_SYNTHASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q86SQ9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSWIKEGELS LWERFCANII KAGPMPKHIA FIMDGNRRYA KKCQVERQEG 
        60         70         80         90        100
HSQGFNKLAE TLRWCLNLGI LEVTVYAFSI ENFKRSKSEV DGLMDLARQK 
       110        120        130        140        150
FSRLMEEKEK LQKHGVCIRV LGDLHLLPLD LQELIAQAVQ ATKNYNKCFL 
       160        170        180        190        200
NVCFAYTSRH EISNAVREMA WGVEQGLLDP SDISESLLDK CLYTNRSPHP 
       210        220        230        240        250
DILIRTSGEV RLSDFLLWQT SHSCLVFQPV LWPEYTFWNL FEAILQFQMN 
       260        270        280        290        300
HSVLQKARDM YAEERKRQQL ERDQATVTEQ LLREGLQASG DAQLRRTRLH 
       310        320        330 
KLSARREERV QGFLQALELK RADWLARLGT ASA
Length:333
Mass (Da):38,657
Last modified:October 17, 2006 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i12EF3A15437A2583
GO
Isoform 2 (identifier: Q86SQ9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-255: Q → QQ

Show »
Length:334
Mass (Da):38,786
Checksum:i8B91F530F1E538E2
GO
Isoform 3 (identifier: Q86SQ9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     109-147: Missing.

Note: May be due to exon skipping.Curated
Show »
Length:294
Mass (Da):34,264
Checksum:i1EF92BC4658FFDF9
GO
Isoform 4 (identifier: Q86SQ9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     147-181: KCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPS → N

Show »
Length:299
Mass (Da):34,817
Checksum:i55AE4DA2A326CA58
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T0A2Q5T0A2_HUMAN
Alkyl transferase
DHDDS
173Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PI09E9PI09_HUMAN
Alkyl transferase
DHDDS
198Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PRS7E9PRS7_HUMAN
Alkyl transferase
DHDDS
122Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5T0A1Q5T0A1_HUMAN
Alkyl transferase
DHDDS
209Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PI64E9PI64_HUMAN
Alkyl transferase
DHDDS
130Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PR24E9PR24_HUMAN
Alkyl transferase
DHDDS
165Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5T0A3Q5T0A3_HUMAN
Alkyl transferase
DHDDS
216Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y4T1H0Y4T1_HUMAN
Alkyl transferase
DHDDS
162Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PSH7E9PSH7_HUMAN
Ditrans,polycis-polyprenyl diphosph...
DHDDS
85Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5T0A6Q5T0A6_HUMAN
Ditrans,polycis-polyprenyl diphosph...
DHDDS
169Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti151N → Y in BAB14439 (PubMed:14702039).Curated1
Sequence conflicti277V → E in AAH34152 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08070837R → H in DEDSM; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553121073EnsemblClinVar.1
Natural variantiVAR_06535642K → E in RP59; 5-fold reduction in catalytic activity and reduced affinity for FPP but not for IPP.. 2 PublicationsCorresponds to variant dbSNP:rs147394623EnsemblClinVar.1
Natural variantiVAR_08503495D → N Found in a patient with progressive myoclonus epilepsy; unknown pathological significance. 1 Publication1
Natural variantiVAR_085035205R → Q Found in a patient with progressive myoclonus epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1557447255EnsemblClinVar.1
Natural variantiVAR_080709211R → Q in DEDSM; also found in a patient with progressive myoclonus epilepsy and developmental delay; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs1553122926EnsemblClinVar.1
Natural variantiVAR_028088253V → M3 PublicationsCorresponds to variant dbSNP:rs3816539EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_010030109 – 147Missing in isoform 3. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_045007147 – 181KCFLN…LLDPS → N in isoform 4. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_010031255Q → QQ in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB090852 mRNA Translation: BAC57588.1
GU727641 mRNA Translation: ADU87642.1
AK023164 mRNA Translation: BAB14439.1
AK297134 mRNA Translation: BAH12505.1
AK316485 mRNA Translation: BAH14856.1
AL513365 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07806.1
CH471059 Genomic DNA Translation: EAX07808.1
CH471059 Genomic DNA Translation: EAX07809.1
CH471059 Genomic DNA Translation: EAX07810.1
CH471059 Genomic DNA Translation: EAX07811.1
CH471059 Genomic DNA Translation: EAX07812.1
BC003643 mRNA Translation: AAH03643.1
BC004117 mRNA Translation: AAH04117.1
BC034152 mRNA Translation: AAH34152.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS281.1 [Q86SQ9-2]
CCDS282.1 [Q86SQ9-1]
CCDS57983.1 [Q86SQ9-4]
CCDS57984.1 [Q86SQ9-3]

NCBI Reference Sequences

More...RefSeqi		NP_001230493.1, NM_001243564.1 [Q86SQ9-4]
NP_001230494.1, NM_001243565.1 [Q86SQ9-3]
NP_079163.2, NM_024887.3 [Q86SQ9-2]
NP_995583.1, NM_205861.2 [Q86SQ9-1]
XP_006710975.1, XM_006710912.2
XP_006710976.1, XM_006710913.2
XP_006710977.1, XM_006710914.2
XP_011540485.1, XM_011542183.2
XP_011540486.1, XM_011542184.2
XP_011540488.1, XM_011542186.2
XP_016857868.1, XM_017002379.1
XP_016857869.1, XM_017002380.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000236342; ENSP00000236342; ENSG00000117682
ENST00000360009; ENSP00000353104; ENSG00000117682 [Q86SQ9-2]
ENST00000525682; ENSP00000434984; ENSG00000117682 [Q86SQ9-4]
ENST00000526219; ENSP00000434219; ENSG00000117682 [Q86SQ9-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79947

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79947

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000236342.12; ENSP00000236342.7; NM_205861.3; NP_995583.1

UCSC genome browser

More...UCSCi		uc001bmk.4, human [Q86SQ9-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB090852 mRNA Translation: BAC57588.1
GU727641 mRNA Translation: ADU87642.1
AK023164 mRNA Translation: BAB14439.1
AK297134 mRNA Translation: BAH12505.1
AK316485 mRNA Translation: BAH14856.1
AL513365 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07806.1
CH471059 Genomic DNA Translation: EAX07808.1
CH471059 Genomic DNA Translation: EAX07809.1
CH471059 Genomic DNA Translation: EAX07810.1
CH471059 Genomic DNA Translation: EAX07811.1
CH471059 Genomic DNA Translation: EAX07812.1
BC003643 mRNA Translation: AAH03643.1
BC004117 mRNA Translation: AAH04117.1
BC034152 mRNA Translation: AAH34152.1
CCDSiCCDS281.1 [Q86SQ9-2]
CCDS282.1 [Q86SQ9-1]
CCDS57983.1 [Q86SQ9-4]
CCDS57984.1 [Q86SQ9-3]
RefSeqiNP_001230493.1, NM_001243564.1 [Q86SQ9-4]
NP_001230494.1, NM_001243565.1 [Q86SQ9-3]
NP_079163.2, NM_024887.3 [Q86SQ9-2]
NP_995583.1, NM_205861.2 [Q86SQ9-1]
XP_006710975.1, XM_006710912.2
XP_006710976.1, XM_006710913.2
XP_006710977.1, XM_006710914.2
XP_011540485.1, XM_011542183.2
XP_011540486.1, XM_011542184.2
XP_011540488.1, XM_011542186.2
XP_016857868.1, XM_017002379.1
XP_016857869.1, XM_017002380.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6W2LX-ray2.31A2-330[»]
6Z1NX-ray2.30A1-333[»]
SASBDBiQ86SQ9
SMRiQ86SQ9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi123018, 10 interactors
ComplexPortaliCPX-6701, Dehydrodolichyl diphosphate synthase complex
CORUMiQ86SQ9
IntActiQ86SQ9, 2 interactors
STRINGi9606.ENSP00000353104

PTM databases

iPTMnetiQ86SQ9
PhosphoSitePlusiQ86SQ9

Genetic variation databases

BioMutaiDHDDS
DMDMi116241329

Proteomic databases

jPOSTiQ86SQ9
MassIVEiQ86SQ9
MaxQBiQ86SQ9
PaxDbiQ86SQ9
PeptideAtlasiQ86SQ9
PRIDEiQ86SQ9
ProteomicsDBi6588
69620 [Q86SQ9-1]
69621 [Q86SQ9-2]
69622 [Q86SQ9-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		16091, 111 antibodies from 22 providers

The DNASU plasmid repository

More...DNASUi		79947

Genome annotation databases

EnsembliENST00000236342; ENSP00000236342; ENSG00000117682
ENST00000360009; ENSP00000353104; ENSG00000117682 [Q86SQ9-2]
ENST00000525682; ENSP00000434984; ENSG00000117682 [Q86SQ9-4]
ENST00000526219; ENSP00000434219; ENSG00000117682 [Q86SQ9-3]
GeneIDi79947
KEGGihsa:79947
MANE-SelectiENST00000236342.12; ENSP00000236342.7; NM_205861.3; NP_995583.1
UCSCiuc001bmk.4, human [Q86SQ9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79947
DisGeNETi79947

GeneCards: human genes, protein and diseases

More...GeneCardsi		DHDDS
GeneReviewsiDHDDS
HGNCiHGNC:20603, DHDDS
HPAiENSG00000117682, Low tissue specificity
MalaCardsiDHDDS
MIMi608172, gene
613861, phenotype
617836, phenotype
neXtProtiNX_Q86SQ9
OpenTargetsiENSG00000117682
Orphaneti442835, Non-specific early-onset epileptic encephalopathy
791, Retinitis pigmentosa
PharmGKBiPA134867119
VEuPathDBiHostDB:ENSG00000117682

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1602, Eukaryota
GeneTreeiENSGT00390000007879
InParanoidiQ86SQ9
OMAiPRTEGHK
OrthoDBi1362420at2759
PhylomeDBiQ86SQ9
TreeFamiTF323753

Enzyme and pathway databases

UniPathwayiUPA00378
BRENDAi2.5.1.87, 2681
PathwayCommonsiQ86SQ9
ReactomeiR-HSA-446199, Synthesis of Dolichyl-phosphate
R-HSA-4755609, Defective DHDDS causes retinitis pigmentosa 59
SignaLinkiQ86SQ9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		79947, 802 hits in 1044 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		DHDDS, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Dehydrodolichyl_diphosphate_synthase
DHDDS

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		79947
PharosiQ86SQ9, Tbio

Protein Ontology

More...PROi		PR:Q86SQ9
RNActiQ86SQ9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000117682, Expressed in right hemisphere of cerebellum and 213 other tissues
ExpressionAtlasiQ86SQ9, baseline and differential
GenevisibleiQ86SQ9, HS

Family and domain databases

CDDicd00475, Cis_IPPS, 1 hit
Gene3Di3.40.1180.10, 1 hit
HAMAPiMF_01139, ISPT, 1 hit
InterProiView protein in InterPro
IPR001441, UPP_synth-like
IPR018520, UPP_synth-like_CS
IPR036424, UPP_synth-like_sf
PANTHERiPTHR10291, PTHR10291, 1 hit
PfamiView protein in Pfam
PF01255, Prenyltransf, 1 hit
SUPFAMiSSF64005, SSF64005, 1 hit
TIGRFAMsiTIGR00055, uppS, 1 hit
PROSITEiView protein in PROSITE
PS01066, UPP_SYNTHASE, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDHDDS_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q86SQ9
Secondary accession number(s): B7Z4B9
, B7ZB20, D3DPK7, D3DPK8, D3DPK9, E9KL43, Q5T0A4, Q8NE90, Q9BTG5, Q9BTK3, Q9H905
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: October 17, 2006
Last modified: February 23, 2022
This is version 163 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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