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DOLPP1 dolichyldiphosphatase 1 [ Homo sapiens (human) ]

Gene ID: 57171, updated on 10-Dec-2024

Summary

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Official Symbol
DOLPP1provided by HGNC
Official Full Name
dolichyldiphosphatase 1provided by HGNC
Primary source
HGNC:HGNC:29565
See related
Ensembl:ENSG00000167130 MIM:614516; AllianceGenome:HGNC:29565
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
LSFR2
Summary
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]
Expression
Ubiquitous expression in duodenum (RPKM 12.5), small intestine (RPKM 11.5) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See DOLPP1 in Genome Data Viewer
Location:
9q34.11
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (129081111..129090438)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (141284575..141293902)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131843390..131852717)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene nucleoporin 188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131773679-131774589 Neighboring gene SH3 domain containing GRB2 like, endophilin B2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131784821-131785628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131785629-131786436 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr9:131788471-131789034 and GRCh37_chr9:131789035-131789598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131789599-131790162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131790847-131791586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131791587-131792326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29101 Neighboring gene mitoguardin 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:131821359-131822558 Neighboring gene uncharacterized LOC124902334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29102 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131833123-131834072 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131834073-131835022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131864095-131864840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20360 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:131873890-131874430 Neighboring gene carnitine O-acetyltransferase Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131889125-131890047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131893809-131894363 Neighboring gene protein phosphatase 2 phosphatase activator Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131895457-131895957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131900767-131901394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29104 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131902025-131902652 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131902653-131903282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29107 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131905799-131906426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131907685-131908314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131910837-131911337

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dolichyldiphosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dolichyldiphosphatase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables dolichyldiphosphatase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in dolichyl diphosphate biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in protein N-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein N-linked glycosylation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
dolichyldiphosphatase 1
Names
dolichyl pyrophosphate phosphatase 1
linked to Surfeit genes in Fugu rubripes 2
NP_001129389.1
NP_065171.2

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.

mRNA and Protein(s)

  1. NM_001135917.2 → NP_001129389.1  dolichyldiphosphatase 1 isoform b

    See identical proteins and their annotated locations for NP_001129389.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform b which is shorter compared to isoform a.
    Source sequence(s)
    BC009493, BC033686, DA590931
    Consensus CDS
    CCDS48039.1
    UniProtKB/Swiss-Prot
    Q86YN1
    Related
    ENSP00000384043.3, ENST00000406974.7
    Conserved Domains (1) summary
    cd03382
    Location:16 → 154
    PAP2_dolichyldiphosphatase; PAP2_like proteins, dolichyldiphosphatase subfamily. Dolichyldiphosphatase is a membrane-associated protein located in the endoplasmic reticulum and hydrolyzes dolichyl pyrophosphate, as well as dolichylmonophosphate at a low rate. The enzyme is ...

  2. NM_020438.5 → NP_065171.2  dolichyldiphosphatase 1 isoform a

    See identical proteins and their annotated locations for NP_065171.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC009493, BC033686, DA590931
    Consensus CDS
    CCDS6918.1
    UniProtKB/Swiss-Prot
    A8K3U8, B0QZG4, Q86YN1, Q96GF8, Q9Y3G1
    Related
    ENSP00000361625.4, ENST00000372546.9
    Conserved Domains (1) summary
    cd03382
    Location:16 → 180
    PAP2_dolichyldiphosphatase; PAP2_like proteins, dolichyldiphosphatase subfamily. Dolichyldiphosphatase is a membrane-associated protein located in the endoplasmic reticulum and hydrolyzes dolichyl pyrophosphate, as well as dolichylmonophosphate at a low rate. The enzyme is ...

RNA

  1. NR_072983.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK290713, BC033686, BC040152, BC067858
    Related
    ENST00000327812.12

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    129081111..129090438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    141284575..141293902
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86YN1.1 GenPept UniProtKB/Swiss-Prot:Q86YN1

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