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Aliases for PLB1 Gene

Aliases for PLB1 Gene

  • Phospholipase B1 2 3 5
  • Phospholipase B/Lipase 3 4
  • PLB/LIP 3 4
  • PLB 3 4
  • Phospholipase B1, Membrane-Associated 3
  • Lysophospholipase 3
  • Phospholipase A2 3
  • Phospholipase B 4
  • HPLB 4

External Ids for PLB1 Gene

Previous GeneCards Identifiers for PLB1 Gene

  • GC02P028764
  • GC02P028796
  • GC02P028732
  • GC02P028572

Summaries for PLB1 Gene

Entrez Gene Summary for PLB1 Gene

  • This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]

GeneCards Summary for PLB1 Gene

PLB1 (Phospholipase B1) is a Protein Coding gene. Diseases associated with PLB1 include Amyotrophic Lateral Sclerosis 3 and Cryptococcosis. Among its related pathways are Linoleic acid metabolism and Metabolism of fat-soluble vitamins. GO annotations related to this gene include hydrolase activity, acting on ester bonds and lysophospholipase activity.

UniProtKB/Swiss-Prot for PLB1 Gene

  • Membrane-associated phospholipase. Exhibits a calcium-independent broad substrate specificity including phospholipase A2/lysophospholipase activity. Preferential hydrolysis at the sn-2 position of diacylphospholipids and diacyglycerol, whereas it shows no positional specificity toward triacylglycerol. Exhibits also esterase activity toward p-nitrophenyl. May act on the brush border membrane to facilitate the absorption of digested lipids (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLB1 Gene

Genomics for PLB1 Gene

Regulatory Elements for PLB1 Gene

Enhancers for PLB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G028389 1.8 FANTOM5 ENCODE dbSUPER 16.8 -61.8 -61786 12.5 MLX DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 SSRP1 ZNF610 ZNF512 FOSL2 PLB1 GPN1 ENSG00000270210 ENSG00000235267 LOC102723530 SNRPGP7 NRBP1 PPP1CB
GH02G028404 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -48.7 -48669 7.2 ELF3 PKNOX1 FOXA2 ARID4B KLF17 RAD21 RARA YY1 GATA2 FOS FOSL2 LOC102723530 PLB1 SNRPGP7 ENSG00000270210 PPP1CB ENSG00000270640
GH02G027734 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -720.0 -720042 4.3 FOXA2 ATF1 MLX ARID4B SIN3A ZNF48 YY1 ZNF766 ELK1 GATA2 MRPL33 LINC01460 PLB1 SNRPGP7 LOC102723530 FLJ31356 FOSL2 FNDC4 RBKS
GH02G027794 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -658.9 -658892 6.6 ATF1 SIN3A DMAP1 BRCA1 ZNF2 FOS SP3 SP5 MXD4 TSHZ1 MRPL33 FNDC4 LOC102723530 PLB1 SNRPGP7 SNX17 RBKS ATRAID GC02P027841
GH02G028617 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +166.1 166110 11.2 ATF1 FOXA2 MLX ARID4B YY1 ZNF766 GATA2 ZNF143 FOS SP5 ENSG00000230730 PPP1CB LOC100505774 PLB1 TRMT61B FOSL2 SNRPGP7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PLB1 Gene

Chromosome:
2
Start:
28,457,145 bp from pter
End:
28,643,788 bp from pter
Size:
186,644 bases
Orientation:
Plus strand

Genomic View for PLB1 Gene

Genes around PLB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLB1 Gene

Proteins for PLB1 Gene

  • Protein details for PLB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P1J6-PLB1_HUMAN
    Recommended name:
    Phospholipase B1, membrane-associated
    Protein Accession:
    Q6P1J6
    Secondary Accessions:
    • A8KAX2
    • Q53S03
    • Q8IUP7
    • Q96DP9

    Protein attributes for PLB1 Gene

    Size:
    1458 amino acids
    Molecular mass:
    163081 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB70920.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PLB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLB1 Gene

Post-translational modifications for PLB1 Gene

  • Undergoes proteolytic cleavage in the ileum.
  • Glycosylation at posLast=240240, posLast=493493, Asn529, Asn797, and Asn1055
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PLB1 Gene

Domains & Families for PLB1 Gene

Gene Families for PLB1 Gene

Protein Domains for PLB1 Gene

Suggested Antigen Peptide Sequences for PLB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6P1J6

UniProtKB/Swiss-Prot:

PLB1_HUMAN :
  • Repeat 2 contains the catalytic domain.
  • Belongs to the GDSL lipolytic enzyme family. Phospholipase B1 subfamily.
Domain:
  • Repeat 2 contains the catalytic domain.
Family:
  • Belongs to the GDSL lipolytic enzyme family. Phospholipase B1 subfamily.
genes like me logo Genes that share domains with PLB1: view

Function for PLB1 Gene

Molecular function for PLB1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate.
UniProtKB/Swiss-Prot CatalyticActivity:
Phosphatidylcholine + H(2)O = 1-acylglycerophosphocholine + a carboxylate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by diisopropyl fluorophosphate.
UniProtKB/Swiss-Prot Function:
Membrane-associated phospholipase. Exhibits a calcium-independent broad substrate specificity including phospholipase A2/lysophospholipase activity. Preferential hydrolysis at the sn-2 position of diacylphospholipids and diacyglycerol, whereas it shows no positional specificity toward triacylglycerol. Exhibits also esterase activity toward p-nitrophenyl. May act on the brush border membrane to facilitate the absorption of digested lipids (By similarity).

Gene Ontology (GO) - Molecular Function for PLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004622 lysophospholipase activity IEA --
GO:0004623 phospholipase A2 activity TAS --
GO:0016298 lipase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds IEA --
genes like me logo Genes that share ontologies with PLB1: view
genes like me logo Genes that share phenotypes with PLB1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PLB1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLB1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PLB1 Gene

Localization for PLB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLB1 Gene

Apical cell membrane; Single-pass type I membrane protein. Note=Present in the intestinal brush border membranes. {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 PLB1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 2
mitochondrion 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with PLB1: view

Pathways & Interactions for PLB1 Gene

genes like me logo Genes that share pathways with PLB1: view

Gene Ontology (GO) - Biological Process for PLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006629 lipid metabolic process IEA --
GO:0016042 lipid catabolic process IEA --
GO:0036151 phosphatidylcholine acyl-chain remodeling TAS --
GO:0042572 retinol metabolic process IEA --
genes like me logo Genes that share ontologies with PLB1: view

No data available for SIGNOR curated interactions for PLB1 Gene

Drugs & Compounds for PLB1 Gene

(11) Drugs for PLB1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
alpha-linolenic acid Approved Nutra Full agonist, Agonist 0
Choline alfoscerate Experimental Pharma 0
MYRISTIC ACID Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 22

(49) Additional Compounds for PLB1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
506-30-9
Heptadecanoic acid
  • Heptadecanoate
  • Heptadecanoic acid
  • Margarate
  • Margaric acid
  • Margarinate
506-12-7
Heptadecanoyl CoA
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid coa
  • Heptadecanoyl coenzyme A
  • Heptadecanoyl-coA
3546-17-6
LysoPC(0:0/18:0)
  • 1-Hydroxy-2-Octadecanoyl-sn-glycero-3-phosphocholine
  • 1-Hydroxy-2-stearoyl-sn-glycero-3-phosphocholine
  • Lysophosphatidylcholine
  • Stearoyl lysophosphatidylcholine
LysoPC(10:0)
  • 1-Capryl-2-lysophosphatidylcholine
  • 1-Capryl-L-alpha-phosphorylcholine
  • 1-Decanoyl-sn-glycero-3-phosphocholine
  • 1-Decanoyl-sn-glycerol-3-phosphorylcholine
  • 1-Decanoyllysolecithin
22248-63-1
genes like me logo Genes that share compounds with PLB1: view

Transcripts for PLB1 Gene

Unigene Clusters for PLB1 Gene

Phospholipase B1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLB1

Alternative Splicing Database (ASD) splice patterns (SP) for PLB1 Gene

No ASD Table

Relevant External Links for PLB1 Gene

GeneLoc Exon Structure for
PLB1
ECgene alternative splicing isoforms for
PLB1

Expression for PLB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLB1 Gene

This gene is overexpressed in Whole Blood (x18.7) and Small Intestine - Terminal Ileum (x6.5).

Protein differential expression in normal tissues from HIPED for PLB1 Gene

This gene is overexpressed in Cervix (54.5) and Spinal cord (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PLB1 Gene



Protein tissue co-expression partners for PLB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLB1 Gene:

PLB1

SOURCE GeneReport for Unigene cluster for PLB1 Gene:

Hs.444933

mRNA Expression by UniProt/SwissProt for PLB1 Gene:

Q6P1J6-PLB1_HUMAN
Tissue specificity: Expressed in the epidermis (at protein level).

Evidence on tissue expression from TISSUES for PLB1 Gene

  • Nervous system(4.3)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with PLB1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PLB1 Gene

Orthologs for PLB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLB1 34 35
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia PLB1 34 35
  • 84.17 (n)
cow
(Bos Taurus)
Mammalia PLB1 34 35
  • 82.54 (n)
rat
(Rattus norvegicus)
Mammalia Plb1 34
  • 77.46 (n)
mouse
(Mus musculus)
Mammalia Plb1 34 16 35
  • 76.9 (n)
oppossum
(Monodelphis domestica)
Mammalia PLN 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLB1 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLB1 34 35
  • 61.5 (n)
lizard
(Anolis carolinensis)
Reptilia PLB1 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495859 34
  • 59.05 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-214p16.3 34
  • 55.85 (n)
PLB1 35
  • 42 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011511 34
  • 50.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7365 35
  • 33 (a)
OneToMany
CG11029 35
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F09C8.1 35
  • 36 (a)
OneToMany
Y73B6BL.37 35
  • 36 (a)
OneToMany
W02B12.1 35
  • 35 (a)
OneToMany
Y65B4BR.1 35
  • 35 (a)
OneToMany
F13H8.11 35
  • 26 (a)
OneToMany
R07B7.8 35
  • 26 (a)
OneToMany
R07B7.9 35
  • 24 (a)
OneToMany
T19D7.7 35
  • 23 (a)
OneToMany
F36A2.9 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToOne
Species where no ortholog for PLB1 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)
  • 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)
  • 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 PLB1 Gene

ENSEMBL:
Gene Tree for PLB1 (if available)
TreeFam:
Gene Tree for PLB1 (if available)

Paralogs for PLB1 Gene

No data available for Paralogs for PLB1 Gene

Variants for PLB1 Gene

Sequence variations from dbSNP and Humsavar for PLB1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs193921064 Uncertain significance 28,614,103(+) TAACC(A/C)CTGAC intron-variant
rs1000002857 -- 28,586,524(+) CTAGA(C/G)TAGGC intron-variant
rs1000008645 -- 28,643,154(+) CTTCA(A/G)TGCCT nc-transcript-variant, utr-variant-3-prime
rs1000024147 -- 28,588,134(+) TTTCT(A/G)TTAAT intron-variant
rs1000049857 -- 28,572,668(+) GGGGT(A/G)TGTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLB1 Gene

Variant ID Type Subtype PubMed ID
dgv1105e212 CNV loss 25503493
dgv1106e212 CNV loss 25503493
dgv3745n100 CNV loss 25217958
dgv6745n54 CNV gain 21841781
esv2662457 CNV deletion 23128226
esv2762434 CNV loss 21179565
esv3554278 CNV deletion 23714750
esv3583688 CNV loss 25503493
esv3590161 CNV loss 21293372
nsv1109240 CNV deletion 24896259
nsv455985 CNV gain 19166990
nsv470446 CNV gain 18288195
nsv517970 CNV loss 19592680
nsv521405 CNV loss 19592680

Variation tolerance for PLB1 Gene

Residual Variation Intolerance Score: 99.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.53; 92.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLB1 Gene

Human Gene Mutation Database (HGMD)
PLB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLB1 Gene

Disorders for PLB1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PLB1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 3
  • amyotrophic lateral sclerosis type 3
cryptococcosis
  • busse-buschke's disease
opportunistic mycosis
  • opportunistic mycoses
- elite association - COSMIC cancer census association via MalaCards
Search PLB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PLB1

Genetic Association Database (GAD)
PLB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLB1
genes like me logo Genes that share disorders with PLB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLB1 Gene

Publications for PLB1 Gene

  1. Human epidermis is a novel site of phospholipase B expression. (PMID: 12150957) Maury E. … Gassama-Diagne A. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3 64
  4. Novel interactive partners of neuroligin 3: new aspects for pathogenesis of autism. (PMID: 25464930) Shen C. … Zhong N. (J. Mol. Neurosci. 2015) 3 64
  5. Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene. (PMID: 24520335) Okada Y. … Plenge R.M. (PLoS ONE 2014) 3 64

Products for PLB1 Gene

Sources for PLB1 Gene

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