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Aliases for PLBD1 Gene

Aliases for PLBD1 Gene

  • Phospholipase B Domain Containing 1 2 3 5
  • Phospholipase B Domain-Containing Protein 1 4
  • PLB Homolog 1 (Dictyostelium) 2
  • Lamina Ancestor Homolog 1 4
  • LAMA-Like Protein 1 4
  • EC 3.1.1.- 4
  • EC 3.1.1 56

External Ids for PLBD1 Gene

Previous GeneCards Identifiers for PLBD1 Gene

  • GC12M014548
  • GC12M014657
  • GC12M014425

Summaries for PLBD1 Gene

GeneCards Summary for PLBD1 Gene

PLBD1 (Phospholipase B Domain Containing 1) is a Protein Coding gene. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is PLBD2.

UniProtKB/Swiss-Prot for PLBD1 Gene

  • In view of the small size of the putative binding pocket, it has been proposed that it may act as an amidase or a peptidase (By similarity). Exhibits a weak phospholipase activity, acting on various phospholipids, including phosphatidylcholine, phosphatidylinositol, phosphatidylethanolamine and lysophospholipids.

Additional gene information for PLBD1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLBD1 Gene

Genomics for PLBD1 Gene

GeneHancer (GH) Regulatory Elements for PLBD1 Gene

Promoters and enhancers for PLBD1 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
GH12I014566 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 556.9 +0.3 308 2.6 USF1 ATF1 MAX YY1 E2F1 POLR2A CREM EZH2 ZNF639 L3MBTL2 PLBD1 PLBD1-AS1 GUCY2C ATF7IP ENSG00000261324 ENSG00000214772 WBP11 HIST4H4
GH12I014613 Enhancer 1 Ensembl ENCODE 16.9 -46.0 -45996 2.3 PKNOX1 BMI1 BATF IRF4 ZNF143 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 PLBD1 PLBD1-AS1 GUCY2C GC12P014627
GH12I014272 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 7 +294.6 294647 1.8 SRF ZNF687 TEAD4 HLF MZF1 CBFA2T3 GABPA OSR2 ZSCAN21 PRDM6 ATF7IP RNU6-491P RPL30P11 PLBD1 GC12P014255 GC12M014297 PIR56629
GH12I014545 Enhancer 0.6 ENCODE dbSUPER 12.3 +22.7 22719 0.9 NFIC NFIB IKZF1 PLBD1 PLBD1-AS1 GUCY2C GC12M014554 RN7SKP134 LOC101928317
GH12I014945 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 2.2 -387.0 -386965 19.1 HDGF PKNOX1 ATF1 FOXA2 SMAD1 YBX1 IRF4 YY1 ZNF766 GATA2 ARHGDIB ERP27 PDE6H WBP11 ART4 H2AFJ HIST4H4 SMCO3 C12orf60 ENSG00000256339
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLBD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLBD1 gene promoter:

Genomic Locations for PLBD1 Gene

Genomic Locations for PLBD1 Gene
chr12:14,503,661-14,568,349
(GRCh38/hg38)
Size:
64,689 bases
Orientation:
Minus strand
chr12:14,656,595-14,721,283
(GRCh37/hg19)

Genomic View for PLBD1 Gene

Genes around PLBD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLBD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLBD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLBD1 Gene

Proteins for PLBD1 Gene

  • Protein details for PLBD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P4A8-PLBL1_HUMAN
    Recommended name:
    Phospholipase B-like 1
    Protein Accession:
    Q6P4A8
    Secondary Accessions:
    • A8K4E9
    • Q9BVV3
    • Q9H625

    Protein attributes for PLBD1 Gene

    Size:
    553 amino acids
    Molecular mass:
    63255 Da
    Quaternary structure:
    • May form a homodimer, each monomer is composed of a chain A and a chain B.
    SequenceCaution:
    • Sequence=AAH00909.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15442.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for PLBD1 Gene

Selected DME Specific Peptides for PLBD1 Gene

Q6P4A8:
  • GYWPSYN
  • KLGLDYSYDLA
  • NSGTYNN
  • TNLYPQLI
  • LSNEIIMF

Post-translational modifications for PLBD1 Gene

  • The maturation cleavages that produces chains A and B are required to open the putative substrate binding pocket. Both chains A and B remain associated in the mature protein.
  • Glycosylation at isoforms=71, isoforms=308, Asn366, Asn411, and Asn526
  • Modification sites at PhosphoSitePlus

Other Protein References for PLBD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PLBD1 Gene

Gene Families for PLBD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for PLBD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PLBD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6P4A8

UniProtKB/Swiss-Prot:

PLBL1_HUMAN :
  • Belongs to the phospholipase B-like family.
Family:
  • Belongs to the phospholipase B-like family.
genes like me logo Genes that share domains with PLBD1: view

Function for PLBD1 Gene

Molecular function for PLBD1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 7.4. {ECO:0000269 PubMed:19019078};
UniProtKB/Swiss-Prot Function:
In view of the small size of the putative binding pocket, it has been proposed that it may act as an amidase or a peptidase (By similarity). Exhibits a weak phospholipase activity, acting on various phospholipids, including phosphatidylcholine, phosphatidylinositol, phosphatidylethanolamine and lysophospholipids.

Enzyme Numbers (IUBMB) for PLBD1 Gene

Phenotypes From GWAS Catalog for PLBD1 Gene

Gene Ontology (GO) - Molecular Function for PLBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004622 lysophospholipase activity TAS --
GO:0004623 phospholipase A2 activity TAS --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PLBD1: view

Phenotypes for PLBD1 Gene

genes like me logo Genes that share phenotypes with PLBD1: view

Animal Models for PLBD1 Gene

MGI Knock Outs for PLBD1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PLBD1

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PLBD1 Gene

Localization for PLBD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLBD1 Gene

Lysosome.

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 PLBD1 gene
Compartment Confidence
extracellular 5
cytosol 4
lysosome 4
golgi apparatus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PLBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 25645918
GO:0005764 lysosome IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PLBD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLBD1 Gene

Pathways & Interactions for PLBD1 Gene

genes like me logo Genes that share pathways with PLBD1: view

Gene Ontology (GO) - Biological Process for PLBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006644 phospholipid metabolic process TAS --
GO:0016042 lipid catabolic process IEA --
GO:0036149 phosphatidylinositol acyl-chain remodeling TAS --
GO:0036151 phosphatidylcholine acyl-chain remodeling TAS --
genes like me logo Genes that share ontologies with PLBD1: view

No data available for SIGNOR curated interactions for PLBD1 Gene

Drugs & Compounds for PLBD1 Gene

No Compound Related Data Available

Transcripts for PLBD1 Gene

Unigene Clusters for PLBD1 Gene

Phospholipase B domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLBD1 Gene

No ASD Table

Relevant External Links for PLBD1 Gene

GeneLoc Exon Structure for
PLBD1
ECgene alternative splicing isoforms for
PLBD1

Expression for PLBD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLBD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLBD1 Gene

This gene is overexpressed in Whole Blood (x30.8).

Protein differential expression in normal tissues from HIPED for PLBD1 Gene

This gene is overexpressed in Neutrophil (24.0), Monocytes (11.5), and Spleen (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PLBD1 Gene



Protein tissue co-expression partners for PLBD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLBD1 Gene:

PLBD1

SOURCE GeneReport for Unigene cluster for PLBD1 Gene:

Hs.131933

mRNA Expression by UniProt/SwissProt for PLBD1 Gene:

Q6P4A8-PLBL1_HUMAN
Tissue specificity: Expressed in neutrophils and monocytes.

Evidence on tissue expression from TISSUES for PLBD1 Gene

  • Blood(4.4)
  • Intestine(4.3)
  • Liver(4.2)
  • Spleen(2.1)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with PLBD1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PLBD1 Gene

Orthologs for PLBD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLBD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLBD1 33 34
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia PLBD1 33 34
  • 89.81 (n)
cow
(Bos Taurus)
Mammalia PLBD1 33 34
  • 88.13 (n)
mouse
(Mus musculus)
Mammalia Plbd1 33 16 34
  • 80.95 (n)
rat
(Rattus norvegicus)
Mammalia Plbd1 33
  • 80.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLBD1 34
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLBD1 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLBD1 33 34
  • 70.84 (n)
lizard
(Anolis carolinensis)
Reptilia PLBD1 34
  • 67 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii plbd1 33 34
  • 60.41 (n)
PLBD1 (2 of 2) 34
  • 54 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.844 33
fruit fly
(Drosophila melanogaster)
Insecta lama 34
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y37D8A.2 34
  • 31 (a)
ManyToMany
F09B12.3 34
  • 29 (a)
ManyToMany
Y54F10AM.8 34
  • 28 (a)
ManyToMany
Species where no ortholog for PLBD1 was found in the sources mined by GeneCards:
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PLBD1 Gene

ENSEMBL:
Gene Tree for PLBD1 (if available)
TreeFam:
Gene Tree for PLBD1 (if available)

Paralogs for PLBD1 Gene

Paralogs for PLBD1 Gene

genes like me logo Genes that share paralogs with PLBD1: view

Variants for PLBD1 Gene

Sequence variations from dbSNP and Humsavar for PLBD1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000014407 -- 14,549,745(-) T/G intron_variant
rs1000031683 -- 14,561,641(-) G/A intron_variant
rs1000043862 -- 14,569,540(-) T/C upstream_transcript_variant
rs1000070114 -- 14,562,805(-) T/G intron_variant
rs1000155075 -- 14,518,607(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PLBD1 Gene

Variant ID Type Subtype PubMed ID
esv3628652 CNV loss 21293372
nsv1159987 CNV deletion 26073780
nsv469119 CNV gain 19166990
nsv470269 CNV gain 18288195
nsv557608 CNV gain 21841781
nsv618 CNV deletion 18451855

Variation tolerance for PLBD1 Gene

Residual Variation Intolerance Score: 74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.99; 80.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLBD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLBD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLBD1 Gene

Disorders for PLBD1 Gene

Additional Disease Information for PLBD1

No disorders were found for PLBD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLBD1 Gene

Publications for PLBD1 Gene

  1. The identification of a phospholipase B precursor in human neutrophils. (PMID: 19019078) Xu S … Venge P (The FEBS journal 2009) 2 3 4 58
  2. Identification of phospholipase B from Dictyostelium discoideum reveals a new lipase family present in mammals, flies and nematodes, but not yeast. (PMID: 15193148) Morgan CP … Cockcroft S (The Biochemical journal 2004) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Human neutrophils secrete bioactive paucimannosidic proteins from azurophilic granules into pathogen-infected sputum. (PMID: 25645918) Thaysen-Andersen M … Packer NH (The Journal of biological chemistry 2015) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for PLBD1 Gene

Sources for PLBD1 Gene

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