PLPPR1 phospholipid phosphatase related 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLPPR1provided by HGNC
Official Full Name: phospholipid phosphatase related 1provided by HGNC
Primary source: HGNC:HGNC:25993
See related: Ensembl:ENSG00000148123 MIM:619590; AllianceGenome:HGNC:25993
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: PRG3; LPPR1; PRG-3
Summary: This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 18.9), kidney (RPKM 12.9) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q31.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (101028727..101325135)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (113200691..113497101)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (103791009..104087417)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NIB1507 (e-PCR)
- UniSTS:29

RH123745 (e-PCR)
- UniSTS:137768

STS-M78268 (e-PCR)
- UniSTS:57408

WI-13839 (e-PCR)
- UniSTS:69975

A008T08 (e-PCR)
- UniSTS:79966

D9S2013 (e-PCR)
- UniSTS:56172

RH118897 (e-PCR)
- UniSTS:138888

SHGC-83014 (e-PCR)
- UniSTS:101282

SHGC-105095 (e-PCR)
- UniSTS:169144

SHGC-24321 (e-PCR)
- UniSTS:442

G20345 (e-PCR)
- UniSTS:63965

A005N10 (e-PCR)
- UniSTS:63966

1638 (e-PCR)
- UniSTS:55276

SHGC-143704 (e-PCR)
- UniSTS:172019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables lysophosphatidic acid phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in phospholipid dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in phospholipid dephosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in phospholipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
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 1

Names: inactive 2-lysophosphatidate phosphatase PLPPR1; lipid phosphate phosphatase-related protein type 1; plasticity related gene 3; plasticity-related gene 3 protein

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_017753.3 → NP_060223.2 phospholipid phosphatase-related protein type 1

See identical proteins and their annotated locations for NP_060223.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternative exon at the 5' end compared to variant 1. Both variants encode the same protein.

Source sequence(s)

AL161631, AL359893

Consensus CDS

CCDS6751.1

UniProtKB/Swiss-Prot

Q5VX23, Q8TBJ4, Q9NXE2

UniProtKB/TrEMBL

B7Z8P4

Related

ENSP00000378496.1, ENST00000395056.2

Conserved Domains (1) summary

cd03384
Location:123 → 272

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_207299.2 → NP_997182.1 phospholipid phosphatase-related protein type 1

See identical proteins and their annotated locations for NP_997182.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants encode the same protein.

Source sequence(s)

AK000307, AL357935, BC022465, BI601921, BI914341

Consensus CDS

CCDS6751.1

UniProtKB/Swiss-Prot

Q5VX23, Q8TBJ4, Q9NXE2

UniProtKB/TrEMBL

B7Z8P4

Related

ENSP00000364008.3, ENST00000374874.8

Conserved Domains (1) summary

cd03384
Location:123 → 272

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 ...