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UniProtKB - Q5T2R2 (DPS1_HUMAN)

Entry version 151 (25 May 2022)
Sequence version 1 (21 Dec 2004)
Previous versions | rss
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Protein

All trans-polyprenyl-diphosphate synthase PDSS1

Gene

PDSS1

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

Heterotetrameric enzyme that catalyzes the condensation of farnesyl diphosphate (FPP), which acts as a primer, and isopentenyl diphosphate (IPP) to produce prenyl diphosphates of varying chain lengths and participates in the determination of the side chain of ubiquinone (PubMed:16262699).

Supplies nona and decaprenyl diphosphate, the precursors for the side chain of the isoprenoid quinones ubiquinone-9 (Q9)and ubiquinone-10 (Q10) respectively (PubMed:16262699).

The enzyme adds isopentenyl diphosphate molecules sequentially to farnesyl diphosphate with trans stereochemistry (PubMed:16262699).

1 Publication

<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+By similarityNote: Binds 2 Mg2+ ions per subunit.By similarity

<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: ubiquinone biosynthesis

This protein is involved in the pathway ubiquinone biosynthesis, which is part of Cofactor biosynthesis.
View all proteins of this organism that are known to be involved in the pathway ubiquinone biosynthesis and in Cofactor biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 sitei134Isopentenyl diphosphateBy similarity1
Binding sitei137Isopentenyl diphosphateBy similarity1
Binding sitei173Isopentenyl diphosphateBy similarity1
<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 bindingi180Magnesium 1By similarity1
Metal bindingi180Magnesium 2By similarity1
Metal bindingi184Magnesium 1By similarity1
Metal bindingi184Magnesium 2By similarity1
Binding sitei189Polyprenyl diphosphateBy similarity1
Binding sitei190Isopentenyl diphosphateBy similarity1
Binding sitei266Polyprenyl diphosphateBy similarity1
Binding sitei267Polyprenyl diphosphateBy similarity1
Binding sitei304Polyprenyl diphosphateBy similarity1
Binding sitei321Polyprenyl diphosphateBy similarity1

<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 processIsoprene biosynthesis, Lipid metabolism, Ubiquinone biosynthesis
LigandMagnesium, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.5.1.91, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q5T2R2

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2142789, Ubiquinol biosynthesis

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

More...SignaLinki		Q5T2R2

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

More...UniPathwayi		UPA00232

<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:
All trans-polyprenyl-diphosphate synthase PDSS1Curated
Alternative name(s):
All-trans-decaprenyl-diphosphate synthase subunit 1 (EC:2.5.1.911 Publication)
Decaprenyl pyrophosphate synthase subunit 1
Decaprenyl-diphosphate synthase subunit 1Imported
Solanesyl-diphosphate synthase subunit 1
Trans-prenyltransferase 1
Short name:
TPT 1
<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:PDSS1Imported
Synonyms:DPS11 Publication, TPRT
<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 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:17759, PDSS1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607429, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q5T2R2

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000148459

<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

Mitochondrion

<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

Coenzyme Q10 deficiency, primary, 2 (COQ10D2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive multisystem disorder characterized by early-onset deafness, optic atrophy, mild mental retardation, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy.
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_034879308D → E in COQ10D2. 1 PublicationCorresponds to variant dbSNP:rs119463988EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		23590

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

More...GeneReviewsi		PDSS1

MalaCards human disease database

More...MalaCardsi		PDSS1
MIMi614651, phenotype

Open Targets

More...OpenTargetsi		ENSG00000148459

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

More...Orphaneti		254898, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134982512

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q5T2R2, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PDSS1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74744657

<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_00001239751 – 415All trans-polyprenyl-diphosphate synthase PDSS1Add BLAST415

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q5T2R2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q5T2R2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q5T2R2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q5T2R2

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

More...PaxDbi		Q5T2R2

PeptideAtlas

More...PeptideAtlasi		Q5T2R2

PRoteomics IDEntifications database

More...PRIDEi		Q5T2R2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		64353 [Q5T2R2-1]
64354 [Q5T2R2-2]
64355 [Q5T2R2-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q5T2R2

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

More...PhosphoSitePlusi		Q5T2R2

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000148459, Expressed in mucosa of transverse colon and 195 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q5T2R2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q5T2R2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000148459, Tissue enhanced (intestine, lymphoid tissue)

<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

Heterotetramer composed of 2 PDSS1/DPS1 and 2 PDSS2/DLP1 subunits.

1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		117125, 22 interactors

Protein interaction database and analysis system

More...IntActi		Q5T2R2, 8 interactors

Molecular INTeraction database

More...MINTi		Q5T2R2

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000365388

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q5T2R2, 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

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q5T2R2

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

More...SMRi		Q5T2R2

Database of comparative protein structure models

More...ModBasei		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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni16 – 35DisorderedSequence analysisAdd BLAST20

<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 FPP/GGPP synthase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0776, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153498

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_014015_1_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q5T2R2

Identification of Orthologs from Complete Genome Data

More...OMAi		GKQMRPM

Database of Orthologous Groups

More...OrthoDBi		381154at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q5T2R2

TreeFam database of animal gene trees

More...TreeFami		TF313548

Family and domain databases

Conserved Domains Database

More...CDDi		cd00685, Trans_IPPS_HT, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.600.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008949, Isoprenoid_synthase_dom_sf
IPR000092, Polyprenyl_synt
IPR033749, Polyprenyl_synt_CS

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00348, polyprenyl_synt, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48576, SSF48576, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00723, POLYPRENYL_SYNTHASE_1, 1 hit
PS00444, POLYPRENYL_SYNTHASE_2, 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 (3+)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 3 <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 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5T2R2-1) [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
MASRWWRWRR GCSWKPAARS PGPGSPGRAG PLGPSAAAEV RAQVHRRKGL 
        60         70         80         90        100
DLSQIPYINL VKHLTSACPN VCRISRFHHT TPDSKTHSGE KYTDPFKLGW 
       110        120        130        140        150
RDLKGLYEDI RKELLISTSE LKEMSEYYFD GKGKAFRPII VALMARACNI 
       160        170        180        190        200
HHNNSRHVQA SQRAIALIAE MIHTASLVHD DVIDDASSRR GKHTVNKIWG 
       210        220        230        240        250
EKKAVLAGDL ILSAASIALA RIGNTTVISI LTQVIEDLVR GEFLQLGSKE 
       260        270        280        290        300
NENERFAHYL EKTFKKTASL IANSCKAVSV LGCPDPVVHE IAYQYGKNVG 
       310        320        330        340        350
IAFQLIDDVL DFTSCSDQMG KPTSADLKLG LATGPVLFAC QQFPEMNAMI 
       360        370        380        390        400
MRRFSLPGDV DRARQYVLQS DGVQQTTYLA QQYCHEAIRE ISKLRPSPER 
       410 
DALIQLSEIV LTRDK
Length:415
Mass (Da):46,261
Last modified:December 21, 2004 - v1
<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:iF0B073C75CBD06D2
GO
Isoform 2 (identifier: Q5T2R2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     279-415: SVLGCPDPVV...LSEIVLTRDK → FPRNECYDHATVQFAWRCRQSSTVCTTE

Show »
Length:306
Mass (Da):34,304
Checksum:iD5195700E8AFF902
GO
Isoform 3 (identifier: Q5T2R2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: MASRWWRWRRGCSWKPAARSPGPGSPGRAGPLGPSAAAEVRA → MPA

Show »
Length:376
Mass (Da):42,089
Checksum:iBB32C9961B92ED00
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YEE6H0YEE6_HUMAN
All trans-polyprenyl-diphosphate sy...
PDSS1
158Annotation 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>

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 conflicti30G → V in AAH63635 (PubMed:15489334).Curated1
Sequence conflicti44V → A in AAD28559 (PubMed:10972372).Curated1
Sequence conflicti47R → Q in AAD28559 (PubMed:10972372).Curated1
Sequence conflicti58I → F in AAD28559 (PubMed:10972372).Curated1
Sequence conflicti66S → P in AAD28559 (PubMed:10972372).Curated1
Sequence conflicti72 – 73CR → YS in AAD28559 (PubMed:10972372).Curated2
Sequence conflicti76R → Q in AAD28559 (PubMed:10972372).Curated1
Sequence conflicti83D → Y in AAD28559 (PubMed:10972372).Curated1
Sequence conflicti109D → G in AAD28559 (PubMed:10972372).Curated1
Sequence conflicti114L → P in AAD28559 (PubMed:10972372).Curated1
Sequence conflicti119S → T in AAD28559 (PubMed:10972372).Curated1
Sequence conflicti124M → I in AAD28559 (PubMed:10972372).Curated1
Sequence conflicti131G → V in AAD28559 (PubMed:10972372).Curated1
Sequence conflicti142A → V in AAD28559 (PubMed:10972372).Curated1
Sequence conflicti186A → V in BAD97134 (Ref. 3) Curated1
Sequence conflicti298N → D in BAD97134 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034879308D → E in COQ10D2. 1 PublicationCorresponds to variant dbSNP:rs119463988EnsemblClinVar.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_0171001 – 42MASRW…AEVRA → MPA in isoform 3. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_017101279 – 415SVLGC…LTRDK → FPRNECYDHATVQFAWRCRQ SSTVCTTE in isoform 2. 1 PublicationAdd BLAST137

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
AF118395 mRNA Translation: AAD28559.1
AB210838 mRNA Translation: BAE48216.1
AK223414 mRNA Translation: BAD97134.1
AL390961 Genomic DNA No translation available.
BC049211 mRNA Translation: AAH49211.1
BC063635 mRNA Translation: AAH63635.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31168.1 [Q5T2R2-1]

NCBI Reference Sequences

More...RefSeqi		NP_001308907.1, NM_001321978.1 [Q5T2R2-2]
NP_055132.2, NM_014317.4 [Q5T2R2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000376215.10; ENSP00000365388.5; ENSG00000148459.16

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23590

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23590

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

More...MANE-Selecti		ENST00000376215.10; ENSP00000365388.5; NM_014317.5; NP_055132.2

UCSC genome browser

More...UCSCi		uc001isv.4, human [Q5T2R2-1]

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
AF118395 mRNA Translation: AAD28559.1
AB210838 mRNA Translation: BAE48216.1
AK223414 mRNA Translation: BAD97134.1
AL390961 Genomic DNA No translation available.
BC049211 mRNA Translation: AAH49211.1
BC063635 mRNA Translation: AAH63635.1
CCDSiCCDS31168.1 [Q5T2R2-1]
RefSeqiNP_001308907.1, NM_001321978.1 [Q5T2R2-2]
NP_055132.2, NM_014317.4 [Q5T2R2-1]

3D structure databases

AlphaFoldDBiQ5T2R2
SMRiQ5T2R2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi117125, 22 interactors
IntActiQ5T2R2, 8 interactors
MINTiQ5T2R2
STRINGi9606.ENSP00000365388

PTM databases

iPTMnetiQ5T2R2
PhosphoSitePlusiQ5T2R2

Genetic variation databases

BioMutaiPDSS1
DMDMi74744657

Proteomic databases

EPDiQ5T2R2
jPOSTiQ5T2R2
MassIVEiQ5T2R2
MaxQBiQ5T2R2
PaxDbiQ5T2R2
PeptideAtlasiQ5T2R2
PRIDEiQ5T2R2
ProteomicsDBi64353 [Q5T2R2-1]
64354 [Q5T2R2-2]
64355 [Q5T2R2-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		25917, 61 antibodies from 17 providers

The DNASU plasmid repository

More...DNASUi		23590

Genome annotation databases

EnsembliENST00000376215.10; ENSP00000365388.5; ENSG00000148459.16
GeneIDi23590
KEGGihsa:23590
MANE-SelectiENST00000376215.10; ENSP00000365388.5; NM_014317.5; NP_055132.2
UCSCiuc001isv.4, human [Q5T2R2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		23590
DisGeNETi23590

GeneCards: human genes, protein and diseases

More...GeneCardsi		PDSS1
GeneReviewsiPDSS1
HGNCiHGNC:17759, PDSS1
HPAiENSG00000148459, Tissue enhanced (intestine, lymphoid tissue)
MalaCardsiPDSS1
MIMi607429, gene
614651, phenotype
neXtProtiNX_Q5T2R2
OpenTargetsiENSG00000148459
Orphaneti254898, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
PharmGKBiPA134982512
VEuPathDBiHostDB:ENSG00000148459

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0776, Eukaryota
GeneTreeiENSGT00940000153498
HOGENOMiCLU_014015_1_2_1
InParanoidiQ5T2R2
OMAiGKQMRPM
OrthoDBi381154at2759
PhylomeDBiQ5T2R2
TreeFamiTF313548

Enzyme and pathway databases

UniPathwayiUPA00232
BRENDAi2.5.1.91, 2681
PathwayCommonsiQ5T2R2
ReactomeiR-HSA-2142789, Ubiquinol biosynthesis
SignaLinkiQ5T2R2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		23590, 169 hits in 1076 CRISPR screens

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

More...ChiTaRSi		PDSS1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PDSS1

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

More...GenomeRNAii		23590
PharosiQ5T2R2, Tbio

Protein Ontology

More...PROi		PR:Q5T2R2
RNActiQ5T2R2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000148459, Expressed in mucosa of transverse colon and 195 other tissues
ExpressionAtlasiQ5T2R2, baseline and differential
GenevisibleiQ5T2R2, HS

Family and domain databases

CDDicd00685, Trans_IPPS_HT, 1 hit
Gene3Di1.10.600.10, 1 hit
InterProiView protein in InterPro
IPR008949, Isoprenoid_synthase_dom_sf
IPR000092, Polyprenyl_synt
IPR033749, Polyprenyl_synt_CS
PfamiView protein in Pfam
PF00348, polyprenyl_synt, 1 hit
SUPFAMiSSF48576, SSF48576, 1 hit
PROSITEiView protein in PROSITE
PS00723, POLYPRENYL_SYNTHASE_1, 1 hit
PS00444, POLYPRENYL_SYNTHASE_2, 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 nameiDPS1_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: Q5T2R2
Secondary accession number(s): Q53F75
, Q6P473, Q86WQ8, Q9Y2W5
<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: January 24, 2006
Last sequence update: December 21, 2004
Last modified: May 25, 2022
This is version 151 of the entry and version 1 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

Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: 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. SIMILARITY comments
    Index of protein domains and families
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