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] See more...

Aliases for PNPLA7 Gene

Aliases for PNPLA7 Gene

  • Patatin Like Phospholipase Domain Containing 7 2 3 5
  • Patatin-Like Phospholipase Domain-Containing Protein 7 3 4
  • C9orf111 3 4
  • Patatin-Like Phospholipase Domain Containing 7 2
  • Chromosome 9 Open Reading Frame 111 2
  • EC 3.1.1.5 52
  • EC 3.1.1.- 4
  • NTE-R1 3
  • NTEL1 3

External Ids for PNPLA7 Gene

Previous HGNC Symbols for PNPLA7 Gene

  • C9orf111

Previous GeneCards Identifiers for PNPLA7 Gene

  • GC09M139474
  • GC09M140354
  • GC09M109818

Summaries for PNPLA7 Gene

Entrez Gene Summary for PNPLA7 Gene

  • 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]

GeneCards Summary for PNPLA7 Gene

PNPLA7 (Patatin Like Phospholipase Domain Containing 7) is a Protein Coding gene. Diseases associated with PNPLA7 include Charcot-Marie-Tooth Disease, Axonal, Type 2P and Chanarin-Dorfman Syndrome. Among its related pathways are PI Metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include lysophospholipase activity. An important paralog of this gene is PNPLA6.

UniProtKB/Swiss-Prot Summary for PNPLA7 Gene

  • Serine hydrolase, whose specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.

Additional gene information for PNPLA7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PNPLA7 Gene

Genomics for PNPLA7 Gene

GeneHancer (GH) Regulatory Elements for PNPLA7 Gene

Promoters and enhancers for PNPLA7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J137549 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 526.8 -0.4 -361 3.5 FOXK2 HNRNPK ZNF217 CTCF SIN3A NRF1 POLR2G USF1 SP1 PHF8 PNPLA7 MRPL41 EHMT1 EXD3 DPH7 NPDC1 ZMYND19
GH09J137548 Enhancer 0.3 ENCODE 500.7 +2.0 1953 0.3 MYC PNPLA7 piR-38005-067
GH09J137592 Enhancer 1 FANTOM5 ENCODE dbSUPER 16.3 -42.4 -42403 2 ZNF623 FOXA2 ESRRA SPI1 MYC MAZ GLIS1 NFIL3 KLF1 NR3C1 piR-55905-013 EHMT1 PNPLA7 GRIN1 RNF208 CACNA1B TPRN lnc-ARRDC1-2
GH09J137682 Enhancer 0.8 ENCODE dbSUPER 14.6 -131.8 -131814 0.5 ZIC2 ZNF423 CTCF OSR2 SP2 ZBTB17 MEF2B ZFHX2 EBF1 GLIS1 piR-48759-316 PNPLA7 ARRDC1-AS1 EHMT1 ARRDC1 ZMYND19 EXD3 NOXA1 SETP5 ENSG00000283411
GH09J137233 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 3.8 +311.7 311685 11.7 HNRNPK ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 POLR2G USF1 SP1 TUBB4B INPP5E ANAPC2 EHMT1 DPH7 ENTR1 ENSG00000255585 SNHG7 SNAPC4 NDOR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PNPLA7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PNPLA7

Top Transcription factor binding sites by QIAGEN in the PNPLA7 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • E47
  • Nkx2-5
  • NRF-2
  • Tal-1

Genomic Locations for PNPLA7 Gene

Genomic Locations for PNPLA7 Gene
chr9:137,459,472-137,550,895
(GRCh38/hg38)
Size:
91,424 bases
Orientation:
Minus strand
chr9:140,354,404-140,444,986
(GRCh37/hg19)
Size:
90,583 bases
Orientation:
Minus strand

Genomic View for PNPLA7 Gene

Genes around PNPLA7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNPLA7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNPLA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNPLA7 Gene

Proteins for PNPLA7 Gene

  • Protein details for PNPLA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZV29-PLPL7_HUMAN
    Recommended name:
    Patatin-like phospholipase domain-containing protein 7
    Protein Accession:
    Q6ZV29
    Secondary Accessions:
    • B5MDD3
    • Q5T364
    • Q658X0
    • Q658Y3
    • Q6ZTS1
    • Q86YU8
    • Q8TAY5
    • Q96N75
    • Q9H7N5

    Protein attributes for PNPLA7 Gene

    Size:
    1317 amino acids
    Molecular mass:
    145705 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71033.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for PNPLA7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNPLA7 Gene

Selected DME Specific Peptides for PNPLA7 Gene

Q6ZV29:
  • RQADCILIVGLGDQEP
  • WRYVRASM
  • LVLGGGGARG
  • DRHSDFSRLARVLTGN
  • CVRQLEVVKSS

Post-translational modifications for PNPLA7 Gene

  • Glycosylation at Asn728, Asn975, Asn1014, and Asn1233
  • Modification sites at PhosphoSitePlus

Other Protein References for PNPLA7 Gene

Domains & Families for PNPLA7 Gene

Gene Families for PNPLA7 Gene

Protein Domains for PNPLA7 Gene

Blocks:
  • Cyclic nucleotide-binding domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PNPLA7 Gene

GenScript: Design optimal peptide antigens:
  • Patatin-like phospholipase domain-containing protein 7 (PLPL7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZV29

UniProtKB/Swiss-Prot:

PLPL7_HUMAN :
  • Belongs to the NTE family.
Family:
  • Belongs to the NTE family.
genes like me logo Genes that share domains with PNPLA7: view

Function for PNPLA7 Gene

Molecular function for PNPLA7 Gene

UniProtKB/Swiss-Prot Function:
Serine hydrolase, whose specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.

Enzyme Numbers (IUBMB) for PNPLA7 Gene

Phenotypes From GWAS Catalog for PNPLA7 Gene

Gene Ontology (GO) - Molecular Function for PNPLA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004622 lysophospholipase activity IBA 21873635
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PNPLA7: view
genes like me logo Genes that share phenotypes with PNPLA7: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PNPLA7

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNPLA7

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PNPLA7 Gene

Localization for PNPLA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNPLA7 Gene

Membrane; Single-pass membrane protein. Nucleus membrane; Single-pass membrane protein. Mitochondrion membrane; Single-pass membrane protein. Lysosome membrane; Single-pass membrane protein. Microsome membrane; Single-pass membrane protein. Note=Found in the nuclear, mitochondrial, lysosomal, and microsomal fractions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PNPLA7 gene
Compartment Confidence
endoplasmic reticulum 4
mitochondrion 3
nucleus 3
cytosol 3
lysosome 3
cytoskeleton 2
plasma membrane 1
extracellular 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (1)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PNPLA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion IEA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005783 endoplasmic reticulum IBA 21873635
genes like me logo Genes that share ontologies with PNPLA7: view

Pathways & Interactions for PNPLA7 Gene

genes like me logo Genes that share pathways with PNPLA7: view

Pathways by source for PNPLA7 Gene

Gene Ontology (GO) - Biological Process for PNPLA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0016042 lipid catabolic process IEA --
genes like me logo Genes that share ontologies with PNPLA7: view

No data available for SIGNOR curated interactions for PNPLA7 Gene

Drugs & Compounds for PNPLA7 Gene

(2) Drugs for PNPLA7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Choline alfoscerate Experimental, Investigational Pharma 0

(1) Additional Compounds for PNPLA7 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sn-glycero-3-Phosphoethanolamine
  • Glycerophosphoethanolamine
genes like me logo Genes that share compounds with PNPLA7: view

Transcripts for PNPLA7 Gene

mRNA/cDNA for PNPLA7 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNPLA7

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PNPLA7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for PNPLA7 Gene

GeneLoc Exon Structure for
PNPLA7

Expression for PNPLA7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PNPLA7 Gene

Protein differential expression in normal tissues from HIPED for PNPLA7 Gene

This gene is overexpressed in Liver, secretome (22.0), Peripheral blood mononuclear cells (15.4), Pancreatic juice (13.5), and Platelet (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PNPLA7 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PNPLA7

SOURCE GeneReport for Unigene cluster for PNPLA7 Gene:

Hs.294147

Evidence on tissue expression from TISSUES for PNPLA7 Gene

  • Nervous system(4.3)
  • Liver(4.1)
  • Lymph node(4.1)
  • Spleen(4.1)
  • Stomach(4.1)
genes like me logo Genes that share expression patterns with PNPLA7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PNPLA7 Gene

Orthologs for PNPLA7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PNPLA7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PNPLA7 31
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PNPLA7 31 30
  • 84.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PNPLA7 31 30
  • 84.13 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnpla7 30
  • 81.09 (n)
mouse
(Mus musculus)
Mammalia Pnpla7 17 31 30
  • 80.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PNPLA7 31
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PNPLA7 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNPLA7 31 30
  • 72.01 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNPLA7 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnpla6 30
  • 72.61 (n)
Str.17512 30
zebrafish
(Danio rerio)
Actinopterygii pnpla7a 31
  • 67 (a)
OneToMany
pnpla7b 31 30
  • 66.31 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8816 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000467 30
  • 57 (n)
fruit fly
(Drosophila melanogaster)
Insecta sws 31 30
  • 53.47 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK370.4 31 30
  • 48.27 (n)
ManyToMany
M110.7 31
  • 33 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NTE1 31
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
OneToMany
Species where no ortholog for PNPLA7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PNPLA7 Gene

ENSEMBL:
Gene Tree for PNPLA7 (if available)
TreeFam:
Gene Tree for PNPLA7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PNPLA7: view image

Paralogs for PNPLA7 Gene

Paralogs for PNPLA7 Gene

(1) SIMAP similar genes for PNPLA7 Gene using alignment to 3 proteins:

  • PLPL7_HUMAN
  • F2Z2D4_HUMAN
  • Q5T362_HUMAN
genes like me logo Genes that share paralogs with PNPLA7: view

Variants for PNPLA7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PNPLA7 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
768342 Benign: not provided 137,495,086(-) A/G SYNONYMOUS_VARIANT
rs11137410 - p.Arg323Gln
rs11791683 - p.Gly387Ser
rs12788 - p.Arg236His
rs1891630 - p.Ala803Val

Additional dbSNP identifiers (rs#s) for PNPLA7 Gene

Structural Variations from Database of Genomic Variants (DGV) for PNPLA7 Gene

Variant ID Type Subtype PubMed ID
dgv1248n67 CNV gain 20364138
dgv1249n67 CNV gain 20364138
dgv13012n54 CNV loss 21841781
dgv1388e199 CNV deletion 23128226
dgv4179n106 CNV duplication 24896259
esv1491510 CNV deletion 17803354
esv1920878 CNV deletion 18987734
esv2007027 CNV deletion 18987734
esv2739454 CNV deletion 23290073
esv2739455 CNV deletion 23290073
esv2739456 CNV deletion 23290073
esv2739457 CNV deletion 23290073
esv2739458 CNV deletion 23290073
esv3369955 CNV duplication 20981092
esv3418530 CNV duplication 20981092
esv3545667 CNV deletion 23714750
esv3573432 CNV loss 25503493
esv3622035 CNV loss 21293372
esv3622037 CNV loss 21293372
esv992019 CNV insertion 20482838
nsv1075701 CNV deletion 25765185
nsv1078658 CNV duplication 25765185
nsv1119621 CNV deletion 24896259
nsv1126933 CNV deletion 24896259
nsv1142715 CNV deletion 24896259
nsv1152315 CNV duplication 26484159
nsv524322 CNV loss 19592680
nsv616023 CNV loss 21841781
nsv6772 CNV insertion 18451855
nsv831762 CNV loss 17160897
nsv831763 CNV loss 17160897
nsv951208 CNV deletion 24416366
nsv951209 CNV deletion 24416366
nsv951210 CNV deletion 24416366

Variation tolerance for PNPLA7 Gene

Residual Variation Intolerance Score: 99.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.63; 89.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PNPLA7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNPLA7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNPLA7 Gene

Disorders for PNPLA7 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PNPLA7 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PNPLA7

genes like me logo Genes that share disorders with PNPLA7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PNPLA7 Gene

Publications for PNPLA7 Gene

  1. Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. (PMID: 19029121) Kienesberger PC … Zechner R (Journal of lipid research 2009) 2 3 54
  2. Characterization of the human patatin-like phospholipase family. (PMID: 16799181) Wilson PA … Crowther DJ (Journal of lipid research 2006) 2 3 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Loss of neuropathy target esterase in mice links organophosphate exposure to hyperactivity. (PMID: 12640454) Winrow CJ … Barlow C (Nature genetics 2003) 2 3 54
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 54

Products for PNPLA7 Gene

Sources for PNPLA7 Gene