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PNPLA7 patatin like phospholipase domain containing 7 [ Homo sapiens (human) ]

Gene ID: 375775, updated on 5-Mar-2024

Summary

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Official Symbol
PNPLA7provided by HGNC
Official Full Name
patatin like phospholipase domain containing 7provided by HGNC
Primary source
HGNC:HGNC:24768
See related
Ensembl:ENSG00000130653 MIM:612122; AllianceGenome:HGNC:24768
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
NTEL1; NTE-R1; C9orf111
Summary
Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]
Expression
Ubiquitous expression in prostate (RPKM 6.3), skin (RPKM 4.2) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
9q34.3
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137459952..137550402, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149710086..149803830, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140354404..140444854, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr9:140330497-140330751 Neighboring gene NADPH oxidase activator 1 Neighboring gene Sharpr-MPRA regulatory region 12030 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 8 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:140343721-140344920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140346657-140347540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140347541-140348422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140349307-140350188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140351970-140352667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20626 Neighboring gene microRNA 7114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140355491-140356424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140356425-140357357 Neighboring gene NMDA receptor synaptonuclear signaling and neuronal migration factor Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:140377541-140378740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140389307-140389807 Neighboring gene 9q34.3 PNPLA7 recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140438353-140438854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140443963-140444464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20628 Neighboring gene uncharacterized LOC124902317 Neighboring gene mitochondrial ribosomal protein L41 Neighboring gene diphthamide biosynthesis 7 Neighboring gene Sharpr-MPRA regulatory region 4489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20629

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The Patatin-Like Phospholipase Domain Containing Protein 7 Regulates Macrophage Classical Activation through SIRT1/NF-κB and p38 MAPK Pathways. Zhao Z, et al. Int J Mol Sci, 2022 Nov 29. PMID 36499308, Free PMC Article
  2. Correlation analysis of the PNPLA7 gene polymorphism and susceptibility to menstrual disorder. Su Y, et al. Genet Mol Res, 2015 Mar 6. PMID 25867316
  3. The Lysophospholipase PNPLA7 Controls Hepatic Choline and Methionine Metabolism. Harada S, et al. Biomolecules, 2023 Mar 3. PMID 36979406, Free PMC Article
  4. Neuropathy Target Esterase Is Degraded by the Ubiquitin-Proteasome Pathway with ARA54 as the Ubiquitin Ligase. Long DX, et al. Biochemistry, 2015 Dec 22. PMID 26606397
  5. The phospholipase PNPLA7 functions as a lysophosphatidylcholine hydrolase and interacts with lipid droplets through its catalytic domain. Heier C, et al. J Biol Chem, 2017 Nov 17. PMID 28887301, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The phospholipase PNPLA7 functions as a positive indicator in human colorectal and gastric cancers.
    Title: The phospholipase PNPLA7 functions as a positive indicator in human colorectal and gastric cancers.
  2. The Lysophospholipase PNPLA7 Controls Hepatic Choline and Methionine Metabolism.
    Title: The Lysophospholipase PNPLA7 Controls Hepatic Choline and Methionine Metabolism.
  3. The Patatin-Like Phospholipase Domain Containing Protein 7 Regulates Macrophage Classical Activation through SIRT1/NF-kappaB and p38 MAPK Pathways.
    Title: The Patatin-Like Phospholipase Domain Containing Protein 7 Regulates Macrophage Classical Activation through SIRT1/NF-κB and p38 MAPK Pathways.
  4. The Patatin-Like Phospholipase Domain Containing Protein 7 Facilitates VLDL Secretion by Modulating ApoE Stability.
    Title: The Patatin-Like Phospholipase Domain Containing Protein 7 Facilitates VLDL Secretion by Modulating ApoE Stability.
  5. PNPLA7 acts as an endoplasmic reticulum -anchored lysophosphatidylcholine hydrolase that is composed of specific functional domains mediating catalytic activity, subcellular positioning, and interactions with cellular organelles.
    Title: The phospholipase PNPLA7 functions as a lysophosphatidylcholine hydrolase and interacts with lipid droplets through its catalytic domain.
  6. We explored Single Nucleotide Polymorphism in the PNPLA7 gene on chromosome 9 and investigated their correlation with the susceptibility to menstrual disorder.
    Title: Correlation analysis of the PNPLA7 gene polymorphism and susceptibility to menstrual disorder.
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)

Genotypes

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

Clone Names

  • FLJ31318, FLJ43070, FLJ44279

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lysophospholipase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidyl phospholipase B activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in phosphatidylcholine catabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in lipid droplet IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
patatin-like phospholipase domain-containing protein 7
NP_001092007.2
NP_689499.4
XP_006717165.1
XP_011516966.1
XP_047279320.1
XP_047279321.1
XP_047279322.1
XP_047279323.1
XP_054218918.1
XP_054218919.1
XP_054218920.1
XP_054218921.1
XP_054218922.1
XP_054218923.1

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_001098537.3 → NP_001092007.2  patatin-like phospholipase domain-containing protein 7 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AK125060, AK126267, AL365502, AL832944, DA963194
    Consensus CDS
    CCDS48070.1
    UniProtKB/Swiss-Prot
    Q6ZV29
    Related
    ENSP00000384610.1, ENST00000406427.6
    Conserved Domains (4) summary
    cd07225
    Location:936 → 1241
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    COG0664
    Location:484 → 613
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    COG1752
    Location:941 → 1242
    RssA; Predicted acylesterase/phospholipase RssA, containd patatin domain [General function prediction only]
    cd00038
    Location:607 → 715
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

  2. NM_152286.5 → NP_689499.4  patatin-like phospholipase domain-containing protein 7 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AK125060, AL365502, AL832944, DA963194
    Consensus CDS
    CCDS7045.1
    UniProtKB/Swiss-Prot
    B5MDD3, Q5T364, Q658X0, Q658Y3, Q6ZTS1, Q6ZV29, Q86YU8, Q8TAY5, Q96N75, Q9H7N5
    Related
    ENSP00000277531.4, ENST00000277531.8
    Conserved Domains (2) summary
    cd07225
    Location:911 → 1216
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:582 → 690
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    137459952..137550402 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423367.1 → XP_047279323.1  patatin-like phospholipase domain-containing protein 7 isoform X4

  2. XM_047423366.1 → XP_047279322.1  patatin-like phospholipase domain-containing protein 7 isoform X4

  3. XM_047423365.1 → XP_047279321.1  patatin-like phospholipase domain-containing protein 7 isoform X2

  4. XM_006717102.2 → XP_006717165.1  patatin-like phospholipase domain-containing protein 7 isoform X3

    Conserved Domains (4) summary
    cd07225
    Location:937 → 1242
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    COG0664
    Location:485 → 614
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    COG1752
    Location:942 → 1243
    RssA; Predicted acylesterase/phospholipase RssA, containd patatin domain [General function prediction only]
    cd00038
    Location:608 → 716
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

  5. XM_047423364.1 → XP_047279320.1  patatin-like phospholipase domain-containing protein 7 isoform X1

  6. XM_011518664.3 → XP_011516966.1  patatin-like phospholipase domain-containing protein 7 isoform X5

    Conserved Domains (2) summary
    COG0664
    Location:485 → 614
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:608 → 716
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

RNA

  1. XR_929794.2 RNA Sequence

  2. XR_929793.2 RNA Sequence

  3. XR_001746292.2 RNA Sequence

  4. XR_929792.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    149710086..149803830 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362947.1 → XP_054218922.1  patatin-like phospholipase domain-containing protein 7 isoform X4

  2. XM_054362946.1 → XP_054218921.1  patatin-like phospholipase domain-containing protein 7 isoform X4

  3. XM_054362944.1 → XP_054218919.1  patatin-like phospholipase domain-containing protein 7 isoform X2

  4. XM_054362945.1 → XP_054218920.1  patatin-like phospholipase domain-containing protein 7 isoform X3

  5. XM_054362943.1 → XP_054218918.1  patatin-like phospholipase domain-containing protein 7 isoform X1

  6. XM_054362948.1 → XP_054218923.1  patatin-like phospholipase domain-containing protein 7 isoform X5

RNA

  1. XR_008488016.1 RNA Sequence

  2. XR_008488015.1 RNA Sequence

  3. XR_008488017.1 RNA Sequence

  4. XR_008488014.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZV29.4 GenPept UniProtKB/Swiss-Prot:Q6ZV29

Gene LinkOut

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