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Aliases for PNPLA7 Gene

Aliases for PNPLA7 Gene

  • Patatin Like Phospholipase Domain Containing 7 2 3 5
  • Patatin-Like Phospholipase Domain Containing 7 2 3
  • C9orf111 3 4
  • Chromosome 9 Open Reading Frame 111 2
  • EC 3.1.1.5 63
  • 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. Among its related pathways are Metabolism and PI Metabolism. GO annotations related to this gene include lysophospholipase activity. An important paralog of this gene is PNPLA6.

UniProtKB/Swiss-Prot for PNPLA7 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNPLA7 Gene

Genomics for PNPLA7 Gene

Regulatory Elements for PNPLA7 Gene

Enhancers for PNPLA7 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PNPLA7 on UCSC Golden Path with GeneCards custom track

Promoters for PNPLA7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PNPLA7 on UCSC Golden Path with GeneCards custom track

Genomic Location for PNPLA7 Gene

Chromosome:
9
Start:
137,459,472 bp from pter
End:
137,550,895 bp from pter
Size:
91,424 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:
    145733 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71033.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI14579.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PNPLA7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNPLA7 Gene

Proteomics data for PNPLA7 Gene at MOPED

Selected DME Specific Peptides for PNPLA7 Gene

Post-translational modifications for PNPLA7 Gene

  • Glycosylation at Asn 728, Asn 975, Asn 1014, and Asn 1233
  • Modification sites at PhosphoSitePlus

Other Protein References for PNPLA7 Gene

Domains & Families for PNPLA7 Gene

Gene Families for PNPLA7 Gene

Suggested Antigen Peptide Sequences for PNPLA7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZV29

UniProtKB/Swiss-Prot:

PLPL7_HUMAN :
  • Contains 3 cyclic nucleotide-binding domains.
  • Belongs to the NTE family.
Domain:
  • Contains 3 cyclic nucleotide-binding domains.
  • Contains 1 patatin domain.
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

Gene Ontology (GO) - Molecular Function for PNPLA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0052689 carboxylic ester hydrolase activity IEA --
genes like me logo Genes that share ontologies with PNPLA7: view

Phenotypes for PNPLA7 Gene

GenomeRNAi human phenotypes for PNPLA7:
genes like me logo Genes that share phenotypes with PNPLA7: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PNPLA7

No data available for Human Phenotype Ontology , Animal Models , miRNA , 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
Jensen Localization Image for PNPLA7 Gene COMPARTMENTS Subcellular localization image for PNPLA7 gene
Compartment Confidence
endoplasmic reticulum 4
mitochondrion 4
nucleus 4
cytosol 3
lysosome 3
vacuole 3
cytoskeleton 2
golgi apparatus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PNPLA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IEA --
GO:0031966 mitochondrial membrane IEA --
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

Interacting Proteins 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 --
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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glycerophosphocholine
  • 2-[[(2,3-Dihydroxypropoxy)hydroxyphosphinyl]oxy]-N,N,N-trimethyl-Ethanaminium inner salt
  • a-Glycerophosphorylcholine
  • a-Glycerylphosphorylcholine
  • alpha-Glycerophosphorylcholine
  • alpha-Glycerylphosphorylcholine
28319-77-9
sn-glycero-3-Phosphoethanolamine
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with PNPLA7: view

Transcripts for PNPLA7 Gene

Unigene Clusters for PNPLA7 Gene

Patatin-like phospholipase domain containing 7:
Representative Sequences:

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
ECgene alternative splicing isoforms for
PNPLA7

Expression for PNPLA7 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for PNPLA7 Gene



SOURCE GeneReport for Unigene cluster for PNPLA7 Gene Hs.294147

genes like me logo Genes that share expression patterns with PNPLA7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia PNPLA7 35
  • 84.13 (n)
  • 82.08 (a)
PNPLA7 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PNPLA7 35
  • 84.66 (n)
  • 85.19 (a)
PNPLA7 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pnpla7 35
  • 80.73 (n)
  • 82.53 (a)
Pnpla7 16
Pnpla7 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnpla7 35
  • 81.09 (n)
  • 82.79 (a)
oppossum
(Monodelphis domestica)
Mammalia PNPLA7 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNPLA7 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PNPLA7 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNPLA7 35
  • 72.01 (n)
  • 76.6 (a)
PNPLA7 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNPLA7 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnpla6 35
  • 72.61 (n)
  • 74.87 (a)
Str.17512 35
zebrafish
(Danio rerio)
Actinopterygii pnpla7b 35
  • 66.31 (n)
  • 69.37 (a)
pnpla7a 36
  • 67 (a)
OneToMany
pnpla7b 36
  • 65 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8816 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000467 35
  • 57 (n)
  • 48.55 (a)
fruit fly
(Drosophila melanogaster)
Insecta sws 35
  • 53.47 (n)
  • 47.81 (a)
sws 36
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK370.4 35
  • 48.27 (n)
  • 44.92 (a)
M110.7 36
  • 33 (a)
ManyToMany
ZK370.4 36
  • 33 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NTE1 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for PNPLA7:
  • 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)

Paralogs for PNPLA7 Gene

Paralogs for PNPLA7 Gene

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

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

Variants for PNPLA7 Gene

Sequence variations from dbSNP and Humsavar for PNPLA7 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs11137410 - 137,519,958(+) TAAGC(C/T)GCTCT nc-transcript-variant, reference, missense
rs3750378 - 137,515,439(-) GCAAA(C/G/T)AGATC nc-transcript-variant, reference, missense
rs3750379 - 137,515,425(-) GAGGA(G/T)CTGGA nc-transcript-variant, reference, missense
rs1891630 - 137,480,409(-) CCAGG(C/T)AGATG nc-transcript-variant, reference, missense
rs34938599 - 137,480,347(+) GCCCA(C/T)GATGA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv894387 CNV Gain 21882294
dgv8412n71 CNV Loss 21882294
dgv8416n71 CNV Loss 21882294
nsv524322 CNV Loss 19592680
dgv8423n71 CNV Loss 21882294
nsv894502 CNV Loss 21882294
dgv8445n71 CNV Loss 21882294
dgv8454n71 CNV Gain 21882294
dgv8455n71 CNV Gain+Loss 21882294
nsv894645 CNV Loss 21882294
dgv8460n71 CNV Loss 21882294
nsv894659 CNV Loss 21882294
nsv894660 CNV Loss 21882294
dgv8461n71 CNV Loss 21882294
nsv831762 CNV Loss 17160897
esv1920878 CNV Deletion 18987734
esv2739454 CNV Deletion 23290073
dgv1388e199 CNV Deletion 23128226
dgv1248n67 CNV Gain 20364138
esv2007027 CNV Deletion 18987734
nsv894663 CNV Loss 21882294
nsv6772 CNV Insertion 18451855
esv992019 CNV Insertion 20482838
dgv1249n67 CNV Gain 20364138
esv2739455 CNV Deletion 23290073
esv1491510 CNV Deletion 17803354
esv2739456 CNV Deletion 23290073
esv2739457 CNV Deletion 23290073
nsv831763 CNV Loss 17160897
nsv894664 CNV Loss 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PNPLA7 Gene

Disorders for PNPLA7 Gene

Relevant External Links for PNPLA7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PNPLA7

No disorders were found for PNPLA7 Gene.

No data available for MalaCards , 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 P.C. … Zechner R. (J. Lipid Res. 2009) 2 3 67
  2. Characterization of the human patatin-like phospholipase family. (PMID: 16799181) Wilson P.A. … Crowther D.J. (J. Lipid Res. 2006) 2 3
  3. Loss of neuropathy target esterase in mice links organophosphate exposure to hyperactivity. (PMID: 12640454) Winrow C.J. … Barlow C. (Nat. Genet. 2003) 2 3
  4. Correlation analysis of the PNPLA7 gene polymorphism and susceptibility to menstrual disorder. (PMID: 25867316) Su Y. … Zhao Z.G. (Genet. Mol. Res. 2015) 3
  5. Neuropathy Target Esterase Is Degraded by the Ubiquitin-Proteasome Pathway with ARA54 as the Ubiquitin Ligase. (PMID: 26606397) Long D.X. … Wu Y.J. (Biochemistry 2015) 3

Products for PNPLA7 Gene

Sources for PNPLA7 Gene

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