PLPP7 phospholipid phosphatase 7 (inactive) [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLPP7provided by HGNC
Official Full Name: phospholipid phosphatase 7 (inactive)provided by HGNC
Primary source: HGNC:HGNC:28174
See related: Ensembl:ENSG00000160539 MIM:618743; AllianceGenome:HGNC:28174
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NET39; C9orf67; PPAPDC3
Summary: Predicted to enable sphingosine-1-phosphate phosphatase activity. Predicted to act upstream of or within negative regulation of myotube differentiation. Predicted to be located in endoplasmic reticulum membrane and nucleus. Predicted to be active in membrane and nuclear envelope. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in heart (RPKM 14.9), brain (RPKM 2.9) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (131289723..131309261)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (143498005..143517537)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (134165110..134184648)

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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The nuclear envelope protein Net39 is essential for muscle nuclear integrity and chromatin organization.
Title: The nuclear envelope protein Net39 is essential for muscle nuclear integrity and chromatin organization.
NET39 is a muscle-enriched nuclear envelope transmembrane protein, which regulates initiation of myogenic differentiation via affecting mTOR-IGF-II pathway.
Title: Regulation of myoblast differentiation by the nuclear envelope protein NET39.

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

A008J42 (e-PCR)
- UniSTS:39946

RH41777 (e-PCR)
- UniSTS:63659

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables sphingosine-1-phosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in negative regulation of myotube differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nuclear envelope	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: inactive phospholipid phosphatase 7

Names: epididymis secretory sperm binding protein; nuclear envelope transmembrane protein NET39; phosphatidic acid phosphatase type 2 domain containing 3; phosphatidic acid phosphatase type 2 domain-containing protein 3; probable lipid phosphate phosphatase PPAPDC3

NP_001397950.1

EC 3.1.3.-

NP_116117.3

EC 3.1.3.-

XP_005272287.1

EC 3.1.3.-

XP_054219999.1

EC 3.1.3.-

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_001411021.1 → NP_001397950.1 inactive phospholipid phosphatase 7 isoform 2

Status: VALIDATED

Source sequence(s)

AL354855

Consensus CDS

CCDS94515.1

UniProtKB/TrEMBL

X6R886

Related

ENSP00000361335.1, ENST00000372261.1
NM_032728.4 → NP_116117.3 inactive phospholipid phosphatase 7 isoform 1

See identical proteins and their annotated locations for NP_116117.3

Status: VALIDATED

Source sequence(s)

AK075207, AL354855, BC006362

Consensus CDS

CCDS6942.1

UniProtKB/Swiss-Prot

Q5T6P0, Q8NBV4, Q96SS7, Q9BRC3

UniProtKB/TrEMBL

A0A384NPM3

Related

ENSP00000361338.3, ENST00000372264.4

Conserved Domains (1) summary

cd03391
Location:97 → 255

PAP2_containing_2_like; PAP2, subfamily similar to human phosphatidic_acid_phosphatase_type_2_domain_containing_2. PAP2 is a super-family of phosphatases and haloperoxidases. This subgroup, which is specific to eukaryota, lacks functional characterization and may act as a ...

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_000009.12 Reference GRCh38.p14 Primary Assembly

Range

131289723..131309261

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005272230.5 → XP_005272287.1 inactive phospholipid phosphatase 7 isoform X1

Conserved Domains (1) summary

cl00474
Location:97 → 152

PAP2_like; PAP2_like proteins, a super-family of histidine phosphatases and vanadium haloperoxidases, includes type 2 phosphatidic acid phosphatase or lipid phosphate phosphatase (LPP), Glucose-6-phosphatase, Phosphatidylglycerophosphatase B and bacterial acid ...