A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefS... See more...

Aliases for DOLPP1 Gene

Aliases for DOLPP1 Gene

  • Dolichyldiphosphatase 1 2 3 4 5
  • Dolichyl Pyrophosphate Phosphatase 1 2 3 4
  • Linked To Surfeit Genes In Fugu Rubripes 2 2 3
  • EC 3.6.1.43 4 52
  • LSFR2 3 4
  • EC 3.6.1 52

External Ids for DOLPP1 Gene

Previous GeneCards Identifiers for DOLPP1 Gene

  • GC09P123489
  • GC09P125297
  • GC09P127219
  • GC09P128923
  • GC09P130883
  • GC09P131844
  • GC09P101450

Summaries for DOLPP1 Gene

Entrez Gene Summary for DOLPP1 Gene

  • A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]

GeneCards Summary for DOLPP1 Gene

DOLPP1 (Dolichyldiphosphatase 1) is a Protein Coding gene. Diseases associated with DOLPP1 include Osebold-Remondini Syndrome and Centronuclear Myopathy. Among its related pathways are Metabolism of proteins and Synthesis of substrates in N-glycan biosythesis. Gene Ontology (GO) annotations related to this gene include dolichyldiphosphatase activity. An important paralog of this gene is PPT2.

UniProtKB/Swiss-Prot Summary for DOLPP1 Gene

  • Required for efficient N-glycosylation. Necessary for maintaining optimal levels of dolichol-linked oligosaccharides. Hydrolyzes dolichyl pyrophosphate at a very high rate and dolichyl monophosphate at a much lower rate. Does not act on phosphatidate (By similarity).

Additional gene information for DOLPP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DOLPP1 Gene

Genomics for DOLPP1 Gene

GeneHancer (GH) Regulatory Elements for DOLPP1 Gene


GeneHancers around DOLPP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DOLPP1

Top Transcription factor binding sites by QIAGEN in the DOLPP1 gene promoter:
  • c-Myb
  • GATA-2
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • Sox5
  • USF-1
  • USF1
  • YY1

Genomic Locations for DOLPP1 Gene

Genomic Locations for DOLPP1 Gene
chr9:129,081,104-129,090,438
(GRCh38/hg38)
Size:
9,335 bases
Orientation:
Plus strand
chr9:131,843,379-131,852,717
(GRCh37/hg19)
Size:
9,339 bases
Orientation:
Plus strand

Genomic View for DOLPP1 Gene

Genes around DOLPP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOLPP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOLPP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOLPP1 Gene

Proteins for DOLPP1 Gene

  • Protein details for DOLPP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YN1-DOPP1_HUMAN
    Recommended name:
    Dolichyldiphosphatase 1
    Protein Accession:
    Q86YN1
    Secondary Accessions:
    • A8K3U8
    • B0QZG4
    • Q96GF8
    • Q9Y3G1

    Protein attributes for DOLPP1 Gene

    Size:
    238 amino acids
    Molecular mass:
    27031 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAB44348.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for DOLPP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DOLPP1 Gene

Selected DME Specific Peptides for DOLPP1 Gene

Q86YN1:
  • YGMPSSHSQFM
  • IVGFVTLIIFKRELHTISFLGGL
  • LVSYSRVY
  • VIQEPRPCGGPH

Post-translational modifications for DOLPP1 Gene

No Post-translational modifications

Other Protein References for DOLPP1 Gene

Domains & Families for DOLPP1 Gene

Gene Families for DOLPP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for DOLPP1 Gene

Blocks:
  • PA-phosphatase related phosphoesterase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DOLPP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60437, highly similar to Dolichyldiphosphatase 1 (EC 3.6.1.43) (B0QZG4_HUMAN)
  • Dolichyl pyrophosphate phosphatase 1 (DOPP1_HUMAN)
  • LSFR2 protein (Q9Y3G1_HUMAN)
  • LSFR2 protein (Q9Y3G2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86YN1

UniProtKB/Swiss-Prot:

DOPP1_HUMAN :
  • Belongs to the dolichyldiphosphatase family.
Family:
  • Belongs to the dolichyldiphosphatase family.
genes like me logo Genes that share domains with DOLPP1: view

Function for DOLPP1 Gene

Molecular function for DOLPP1 Gene

UniProtKB/Swiss-Prot Function:
Required for efficient N-glycosylation. Necessary for maintaining optimal levels of dolichol-linked oligosaccharides. Hydrolyzes dolichyl pyrophosphate at a very high rate and dolichyl monophosphate at a much lower rate. Does not act on phosphatidate (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dolichyl diphosphate + H2O = dolichyl phosphate + H(+) + phosphate; Xref=Rhea:RHEA:14385, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9529, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:43474, ChEBI:CHEBI:57497, ChEBI:CHEBI:57683; EC=3.6.1.43; Evidence=. ;.

Enzyme Numbers (IUBMB) for DOLPP1 Gene

Phenotypes From GWAS Catalog for DOLPP1 Gene

Gene Ontology (GO) - Molecular Function for DOLPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0047874 dolichyldiphosphatase activity TAS --
genes like me logo Genes that share ontologies with DOLPP1: view
genes like me logo Genes that share phenotypes with DOLPP1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for DOLPP1

CRISPR Products

miRNA for DOLPP1 Gene

miRTarBase miRNAs that target DOLPP1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DOLPP1 Gene

Localization for DOLPP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOLPP1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DOLPP1 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
cytoskeleton 3
extracellular 2
endosome 2
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DOLPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane ISS --
genes like me logo Genes that share ontologies with DOLPP1: view

Pathways & Interactions for DOLPP1 Gene

genes like me logo Genes that share pathways with DOLPP1: view

UniProtKB/Swiss-Prot Q86YN1-DOPP1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for DOLPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation ISS --
GO:0006489 dolichyl diphosphate biosynthetic process TAS --
GO:0008610 lipid biosynthetic process IBA 21873635
genes like me logo Genes that share ontologies with DOLPP1: view

No data available for SIGNOR curated interactions for DOLPP1 Gene

Drugs & Compounds for DOLPP1 Gene

(3) Drugs for DOLPP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
dolichol phosphate Pharma Competitive, Inhibitor 0

(3) Additional Compounds for DOLPP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichol-20
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
2067-66-5
Dolichyl diphosphate
37247-98-6
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with DOLPP1: view

Transcripts for DOLPP1 Gene

mRNA/cDNA for DOLPP1 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DOLPP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: -
SP3: - -

Relevant External Links for DOLPP1 Gene

GeneLoc Exon Structure for
DOLPP1

Expression for DOLPP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DOLPP1 Gene

Protein differential expression in normal tissues from HIPED for DOLPP1 Gene

This gene is overexpressed in Fetal Brain (12.3), Ovary (8.3), and Retina (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DOLPP1 Gene



Protein tissue co-expression partners for DOLPP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DOLPP1

SOURCE GeneReport for Unigene cluster for DOLPP1 Gene:

Hs.21701

Evidence on tissue expression from TISSUES for DOLPP1 Gene

  • Nervous system(4.5)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with DOLPP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DOLPP1 Gene

Orthologs for DOLPP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DOLPP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOLPP1 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DOLPP1 31 30
  • 94.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DOLPP1 31 30
  • 93.14 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DOLPP1 31
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dolpp1 30
  • 91.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DOLPP1 31
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dolpp1 17 31 30
  • 90.48 (n)
chicken
(Gallus gallus)
Aves DOLPP1 31 30
  • 78.71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DOLPP1 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dolpp1 30
  • 74.79 (n)
Str.3212 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.14640 30
zebrafish
(Danio rerio)
Actinopterygii dolpp1 31 30
  • 73.14 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002666 30
  • 58.3 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAX4 33 31 30
  • 44.58 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05687g 30
  • 44.13 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL186W 30
  • 42.18 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G03080 30
  • 44.96 (n)
rice
(Oryza sativa)
Liliopsida Os03g0288700 30
  • 49.85 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03718 30
  • 49.16 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11001 31
  • 44 (a)
OneToOne
Species where no ortholog for DOLPP1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DOLPP1 Gene

ENSEMBL:
Gene Tree for DOLPP1 (if available)
TreeFam:
Gene Tree for DOLPP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DOLPP1: view image

Paralogs for DOLPP1 Gene

Paralogs for DOLPP1 Gene

genes like me logo Genes that share paralogs with DOLPP1: view

Variants for DOLPP1 Gene

Additional dbSNP identifiers (rs#s) for DOLPP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DOLPP1 Gene

Variant ID Type Subtype PubMed ID
nsv509323 CNV insertion 20534489
nsv818725 CNV gain 17921354
nsv831729 CNV loss 17160897

Variation tolerance for DOLPP1 Gene

Residual Variation Intolerance Score: 37.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DOLPP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOLPP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DOLPP1 Gene

Disorders for DOLPP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DOLPP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
osebold-remondini syndrome
  • brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities
centronuclear myopathy
  • myotubular myopathy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DOLPP1

genes like me logo Genes that share disorders with DOLPP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DOLPP1 Gene

Publications for DOLPP1 Gene

  1. Extensive gene order differences within regions of conserved synteny between the Fugu and human genomes: implications for chromosomal evolution and the cloning of disease genes. (PMID: 10369878) Gilley J … Fried M (Human molecular genetics 1999) 2 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 54
  4. Identification and characterization of a cDNA encoding a dolichyl pyrophosphate phosphatase located in the endoplasmic reticulum of mammalian cells. (PMID: 12198133) Rush JS … Waechter CJ (The Journal of biological chemistry 2002) 2 3 54
  5. Transmembrane insertases and N-glycosylation critically determine synthesis, trafficking, and activity of the nonselective cation channel TRPC6. (PMID: 31266804) Talbot BE … Schlondorff JS (The Journal of biological chemistry 2019) 3 54

Products for DOLPP1 Gene

Sources for DOLPP1 Gene