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PDSS2 decaprenyl diphosphate synthase subunit 2 [ Homo sapiens (human) ]

Gene ID: 57107, updated on 8-Jul-2021

Summary

Official Symbol
PDSS2provided by HGNC
Official Full Name
decaprenyl diphosphate synthase subunit 2provided by HGNC
Primary source
HGNC:HGNC:23041
See related
Ensembl:ENSG00000164494 MIM:610564
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DLP1; COQ1B; hDLP1; COQ10D3; C6orf210; bA59I9.3
Summary
The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in kidney (RPKM 6.5), adrenal (RPKM 5.0) and 25 other tissues See more
Orthologs
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Genomic context

See PDSS2 in Genome Data Viewer
Location:
6q21
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (107152557..107459681, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (107473766..107780768, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene BEN domain containing 3 Neighboring gene RNA, U6 small nuclear 1299, pseudogene Neighboring gene ribosomal protein S24 pseudogene 12 Neighboring gene sine oculis binding protein homolog Neighboring gene Scm polycomb group protein like 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Coenzyme Q10 deficiency, primary, 3 Compare labs
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables all-trans-decaprenyl-diphosphate synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables prenyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
contributes_to trans-hexaprenyltranstransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables trans-octaprenyltranstransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cerebellum development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in isoprenoid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in isoprenoid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of body fluid levels IEA
Inferred from Electronic Annotation
more info
 
involved_in ubiquinone biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ubiquinone biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ubiquinone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
part_of transferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of transferase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
all trans-polyprenyl-diphosphate synthase PDSS2
Names
all-trans-decaprenyl-diphosphate synthase subunit 2
decaprenyl pyrophosphate synthase subunit 2
decaprenyl pyrophosphate synthetase subunit 2
prenyl (decaprenyl) diphosphate synthase, subunit 2
solanesyl-diphosphate synthase subunit 2
subunit 2 of decaprenyl diphosphate synthase
NP_065114.3
XP_011534258.1
XP_011534259.1
XP_011534260.1
XP_011534261.1
XP_011534262.1
XP_011534263.1
XP_011534264.1
XP_011534265.1
XP_016866571.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013033.1 RefSeqGene

    Range
    5012..312014
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020381.4NP_065114.3  all trans-polyprenyl-diphosphate synthase PDSS2

    See identical proteins and their annotated locations for NP_065114.3

    Status: REVIEWED

    Source sequence(s)
    AL832290, BC039906, DC341808
    Consensus CDS
    CCDS5059.1
    UniProtKB/Swiss-Prot
    Q86YH6
    Related
    ENSP00000358033.4, ENST00000369037.9
    Conserved Domains (1) summary
    cl00210
    Location:68399
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    107152557..107459681 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535962.2XP_011534264.1  all trans-polyprenyl-diphosphate synthase PDSS2 isoform X8

    See identical proteins and their annotated locations for XP_011534264.1

    UniProtKB/TrEMBL
    B4DWD3
    Conserved Domains (1) summary
    cl00210
    Location:9263
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  2. XM_011535960.3XP_011534262.1  all trans-polyprenyl-diphosphate synthase PDSS2 isoform X6

    Conserved Domains (1) summary
    cl00210
    Location:5329
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  3. XM_011535958.3XP_011534260.1  all trans-polyprenyl-diphosphate synthase PDSS2 isoform X3

    Conserved Domains (1) summary
    cl00210
    Location:64420
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  4. XM_011535961.3XP_011534263.1  all trans-polyprenyl-diphosphate synthase PDSS2 isoform X7

    See identical proteins and their annotated locations for XP_011534263.1

    UniProtKB/TrEMBL
    B4DKU5
    Conserved Domains (1) summary
    cl00210
    Location:64225
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  5. XM_011535959.3XP_011534261.1  all trans-polyprenyl-diphosphate synthase PDSS2 isoform X5

    Conserved Domains (1) summary
    cl00210
    Location:68355
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  6. XM_011535957.3XP_011534259.1  all trans-polyprenyl-diphosphate synthase PDSS2 isoform X2

    Conserved Domains (1) summary
    cl00210
    Location:68421
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  7. XM_011535956.3XP_011534258.1  all trans-polyprenyl-diphosphate synthase PDSS2 isoform X1

    Conserved Domains (1) summary
    cl00210
    Location:68465
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  8. XM_017011082.2XP_016866571.1  all trans-polyprenyl-diphosphate synthase PDSS2 isoform X4

  9. XM_011535963.3XP_011534265.1  all trans-polyprenyl-diphosphate synthase PDSS2 isoform X9

    UniProtKB/Swiss-Prot
    Q86YH6
    Related
    ENSP00000358027.4, ENST00000369031.4
    Conserved Domains (1) summary
    cl00210
    Location:68208
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
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