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

    Gene ID: 375775, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See PNPLA7 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137459952..137550402, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149710086..149803830, complement)
    RS_2024_09 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 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 phospholipase PNPLA7 functions as a positive indicator in human colorectal and gastric cancers. Bai Y, et al. Medicine (Baltimore), 2023 Oct 20. PMID 37861523, Free PMC Article
    2. 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
    3. Correlation analysis of the PNPLA7 gene polymorphism and susceptibility to menstrual disorder. Su Y, et al. Genet Mol Res, 2015 Mar 6. PMID 25867316
    4. The Lysophospholipase PNPLA7 Controls Hepatic Choline and Methionine Metabolism. Harada S, et al. Biomolecules, 2023 Mar 3. PMID 36979406, Free PMC Article
    5. 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

    See all (18) 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
    		  
    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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    NEW Try the new Transcript table

    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_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
      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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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