PLPPR5 phospholipid phosphatase related 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLPPR5provided by HGNC
Official Full Name: phospholipid phosphatase related 5provided by HGNC
Primary source: HGNC:HGNC:31703
See related: Ensembl:ENSG00000117598 MIM:617287; AllianceGenome:HGNC:31703
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: PAP2; PRG5; LPPR5; PAP2D
Summary: The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 3.8), testis (RPKM 1.2) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 1p21.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (98890245..99005786, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (98738338..98856692, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (99355801..99470417, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

What's a GeneRIF?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
A novel human phosphatidic acid phosphatase type 2 isoform cDNAs (PAP2d) from the fetal brain cDNA library was cloned and characterized.
Title: Cloning and characterization of a novel human phosphatidic acid phosphatase type 2, PAP2d, with two different transcripts PAP2d_v1 and PAP2d_v2.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide association scan of dental caries in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of dental caries patterns in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of a genetic variant at 2q12.1 associated with blood pressure in East-Asians by genome-wide scan including gene-environment interactions. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

STS-T87228 (e-PCR)
- UniSTS:25641

SHGC-75188 (e-PCR)
- UniSTS:26950

AL009347 (e-PCR)
- UniSTS:5461

RH36855 (e-PCR)
- UniSTS:87383

RH64658 (e-PCR)
- UniSTS:22706

RH79763 (e-PCR)
- UniSTS:83694

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in phospholipid dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: phospholipid phosphatase-related protein type 5

Names: PRG-5; lipid phosphate phosphatase-related protein type 5; phosphatidic acid phosphatase 2d; phosphatidic acid phosphatase type 2; phosphatidic acid phosphatase type 2d; plasticity-related gene 5 protein; plasticity-related protein 5

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)

NM_001010861.3 → NP_001010861.1 phospholipid phosphatase-related protein type 5 isoform 2

See identical proteins and their annotated locations for NP_001010861.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as PAP2d_v2, uses an alternate in-frame splice site in the coding region, compared to variant 1, resulting in a protein (isoform 2) that is shorter than isoform 1.

Source sequence(s)

AF131783, AY634620, BC040174, BF514931, R37934

Consensus CDS

CCDS30779.1

UniProtKB/TrEMBL

B4DIM8

Related

ENSP00000359207.3, ENST00000370188.7

Conserved Domains (1) summary

cd03384
Location:118 → 267

PAP2_wunen; PAP2, wunen subfamily. Most likely a family of membrane associated phosphatidic acid phosphatases. Wunen is a drosophila protein expressed in the central nervous system, which provides repellent activity towards primordial germ cells (PGCs), controls the ...
NM_001037317.2 → NP_001032394.1 phospholipid phosphatase-related protein type 5 isoform 1

See identical proteins and their annotated locations for NP_001032394.1

Status: REVIEWED

Description

Transcript Variant: This variant (1), also known as PAP2d_v1, represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF131783, AY574039, BC040174, DR001828, R37934

Consensus CDS

CCDS30778.1

UniProtKB/Swiss-Prot

A8MPX4, B7UCH3, Q32ZD0, Q32ZL2, Q3ZCU7

UniProtKB/TrEMBL

B4DIM8

Related

ENSP00000263177.4, ENST00000263177.5

Conserved Domains (1) summary

cd03384
Location:118 → 267

PAP2_wunen; PAP2, wunen subfamily. Most likely a family of membrane associated phosphatidic acid phosphatases. Wunen is a drosophila protein expressed in the central nervous system, which provides repellent activity towards primordial germ cells (PGCs), controls the ...

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

98890245..99005786 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011540838.4 → XP_011539140.1 phospholipid phosphatase-related protein type 5 isoform X1

See identical proteins and their annotated locations for XP_011539140.1

UniProtKB/TrEMBL

B4DIM8

Conserved Domains (1) summary

cd03384
Location:102 → 251

PAP2_wunen; PAP2, wunen subfamily. Most likely a family of membrane associated phosphatidic acid phosphatases. Wunen is a drosophila protein expressed in the central nervous system, which provides repellent activity towards primordial germ cells (PGCs), controls the ...