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Aliases for PPAPDC3 Gene

Aliases for PPAPDC3 Gene

  • Phosphatidic Acid Phosphatase Type 2 Domain Containing 3 2 3
  • Phosphatidic Acid Phosphatase Type 2 Domain-Containing Protein 3 3 4
  • C9orf67 3 4
  • Probable Lipid Phosphate Phosphatase PPAPDC3 3
  • Chromosome 9 Open Reading Frame 67 2
  • EC 3.1.3.- 4
  • EC 3.1.3 63
  • NET39 3

External Ids for PPAPDC3 Gene

Previous HGNC Symbols for PPAPDC3 Gene

  • C9orf67

Previous GeneCards Identifiers for PPAPDC3 Gene

  • GC09P131195
  • GC09P133154
  • GC09P134165
  • GC09P103655

Summaries for PPAPDC3 Gene

GeneCards Summary for PPAPDC3 Gene

PPAPDC3 (Phosphatidic Acid Phosphatase Type 2 Domain Containing 3) is a Protein Coding gene. GO annotations related to this gene include hydrolase activity. An important paralog of this gene is PPAPDC2.

UniProtKB/Swiss-Prot for PPAPDC3 Gene

  • Plays a role as negative regulator of myoblast differentiation, in part through effects on MTOR signaling. Has no detectable enzymatic activity (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPAPDC3 Gene

Genomics for PPAPDC3 Gene

Regulatory Elements for PPAPDC3 Gene

Genomic Location for PPAPDC3 Gene

Start:
131,289,682 bp from pter
End:
131,309,262 bp from pter
Size:
19,581 bases
Orientation:
Plus strand

Genomic View for PPAPDC3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PPAPDC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPAPDC3 Gene

Proteins for PPAPDC3 Gene

  • Protein details for PPAPDC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBV4-PPAC3_HUMAN
    Recommended name:
    Probable lipid phosphate phosphatase PPAPDC3
    Protein Accession:
    Q8NBV4
    Secondary Accessions:
    • Q5T6P0
    • Q96SS7
    • Q9BRC3

    Protein attributes for PPAPDC3 Gene

    Size:
    271 amino acids
    Molecular mass:
    29448 Da
    Quaternary structure:
    • Homo and heterooligomer. Interacts with MTOR; controls MTOR-dependent IGF2 expression during myoblast differentiation (By similarity).
    SequenceCaution:
    • Sequence=CAI16274.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for PPAPDC3 Gene

Proteomics data for PPAPDC3 Gene at MOPED

Selected DME Specific Peptides for PPAPDC3 Gene

Post-translational modifications for PPAPDC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPAPDC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for PPAPDC3 Gene

Protein Domains for PPAPDC3 Gene

Suggested Antigen Peptide Sequences for PPAPDC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NBV4

UniProtKB/Swiss-Prot:

PPAC3_HUMAN :
  • Q8NBV4
Family:
  • Belongs to the PA-phosphatase related phosphoesterase family.
genes like me logo Genes that share domains with PPAPDC3: view

No data available for Gene Families for PPAPDC3 Gene

Function for PPAPDC3 Gene

Molecular function for PPAPDC3 Gene

UniProtKB/Swiss-Prot Function: Plays a role as negative regulator of myoblast differentiation, in part through effects on MTOR signaling. Has no detectable enzymatic activity (By similarity).

Enzyme Numbers (IUBMB) for PPAPDC3 Gene

Gene Ontology (GO) - Molecular Function for PPAPDC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PPAPDC3: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for PPAPDC3 Gene

Localization for PPAPDC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPAPDC3 Gene

Nucleus envelope. Endoplasmic reticulum membrane. Membrane; Multi-pass membrane protein. Note=Both the N- and C-terminal are exposed to the cytoplasm/nucleoplasm. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPAPDC3 Gene COMPARTMENTS Subcellular localization image for PPAPDC3 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
plasma membrane 3
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PPAPDC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IEA --
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PPAPDC3: view

Pathways for PPAPDC3 Gene

SuperPathways for PPAPDC3 Gene

No Data Available

Interacting Proteins for PPAPDC3 Gene

Gene Ontology (GO) - Biological Process for PPAPDC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0010832 negative regulation of myotube differentiation IEA --
genes like me logo Genes that share ontologies with PPAPDC3: view

No data available for Pathways by source for PPAPDC3 Gene

Compounds for PPAPDC3 Gene

(12) HMDB Compounds for PPAPDC3 Gene

Compound Synonyms Cas Number PubMed IDs
PA(16:0/16:0)
  • Dipalmitoylphosphatidic acid
7091-44-3
PA(16:0/18:1(11Z))
  • PA(16:0/18:1n7)
Not Available
PA(16:0/18:1(9Z))
  • PA(16:0/18:1n9)
Not Available
PA(16:0/18:2(9Z,12Z))
  • PA(34:2)
Not Available
PA(16:0e/18:0)
  • 2-octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
Not Available
genes like me logo Genes that share compounds with PPAPDC3: view

Transcripts for PPAPDC3 Gene

mRNA/cDNA for PPAPDC3 Gene

Unigene Clusters for PPAPDC3 Gene

Phosphatidic acid phosphatase type 2 domain containing 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PPAPDC3 Gene

No ASD Table

Relevant External Links for PPAPDC3 Gene

GeneLoc Exon Structure for
PPAPDC3
ECgene alternative splicing isoforms for
PPAPDC3

Expression for PPAPDC3 Gene

mRNA expression in normal human tissues for PPAPDC3 Gene

mRNA differential expression in normal tissues according to GTEx for PPAPDC3 Gene

This gene is overexpressed in Muscle - Skeletal (11.4), Heart - Left Ventricle (8.4), and Heart - Atrial Appendage (6.8).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for PPAPDC3 Gene

SOURCE GeneReport for Unigene cluster for PPAPDC3 Gene Hs.134292

genes like me logo Genes that share expressions with PPAPDC3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for PPAPDC3 Gene

Orthologs for PPAPDC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PPAPDC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPAPDC3 35
  • 94.65 (n)
  • 91.42 (a)
PPAPDC3 36
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PPAPDC3 35
  • 91.64 (n)
  • 94.46 (a)
PPAPDC3 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPAPDC3 35
  • 92.37 (n)
  • 94.1 (a)
PPAPDC3 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppapdc3 35
  • 89.42 (n)
  • 94.83 (a)
Ppapdc3 16
Ppapdc3 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPAPDC3 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPAPDC3 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppapdc3 35
  • 88.93 (n)
  • 94.1 (a)
chicken
(Gallus gallus)
Aves PPAPDC3 35
  • 78.97 (n)
  • 81.92 (a)
PPAPDC3 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppapdc3 35
  • 68.4 (n)
  • 73.61 (a)
zebrafish
(Danio rerio)
Actinopterygii ppapdc3 35
  • 68.03 (n)
  • 68.03 (a)
ppapdc3 36
  • 63 (a)
OneToMany
PPAPDC3 (1 of 2) 36
  • 58 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG31717 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T13C5.6 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for PPAPDC3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 PPAPDC3 Gene

ENSEMBL:
Gene Tree for PPAPDC3 (if available)
TreeFam:
Gene Tree for PPAPDC3 (if available)

Paralogs for PPAPDC3 Gene

Paralogs for PPAPDC3 Gene

Selected SIMAP similar genes for PPAPDC3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PPAPDC3: view

Variants for PPAPDC3 Gene

Sequence variations from dbSNP and Humsavar for PPAPDC3 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs485314 -- 131,300,271(+) CATAA(A/G)GGGAG intron-variant
rs485766 -- 131,300,261(+) TTCAT(C/T)CATTC intron-variant
rs527765 -- 131,304,042(+) AGGGG(C/T)ACGGG intron-variant
rs532700 -- 131,304,153(+) GGGTG(C/T)GGAGG intron-variant
rs537066 -- 131,306,805(+) gggta(C/T)ggggc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PPAPDC3 Gene

Variant ID Type Subtype PubMed ID
dgv8310n71 CNV Loss 21882294
nsv831739 CNV Loss 17160897
dgv8311n71 CNV Loss 21882294
nsv893979 CNV Loss 21882294
nsv509327 CNV Insertion 20534489
nsv893983 CNV Loss 21882294
nsv893984 CNV Gain 21882294
dgv8312n71 CNV Loss 21882294
nsv893987 CNV Loss 21882294
nsv466602 CNV Loss 19166990
nsv893988 CNV Gain 21882294

Relevant External Links for PPAPDC3 Gene

HapMap Linkage Disequilibrium report
PPAPDC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPAPDC3 Gene

Disorders for PPAPDC3 Gene

Relevant External Links for PPAPDC3

Genetic Association Database (GAD)
PPAPDC3
genes like me logo Genes that share disorders with PPAPDC3: view

No data available for UniProtKB/Swiss-Prot for PPAPDC3 Gene

Publications for PPAPDC3 Gene

  1. Nuclear membrane proteins with potential disease links found by subtractive proteomics. (PMID: 12958361) Schirmer E.C. … Gerace L. (Science 2003) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3 4

Products for PPAPDC3 Gene

Sources for PPAPDC3 Gene

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