Aliases for PLBD1 Gene

Aliases for PLBD1 Gene

  • Phospholipase B Domain Containing 1 2 3 5
  • Phospholipase B Domain-Containing Protein 1 3 4
  • Lamina Ancestor Homolog 1 3 4
  • Phospholipase B-Like 1 3 4
  • LAMA-Like Protein 1 3 4
  • Putative Phospholipase B-Like 1 3
  • PLB Homolog 1 (Dictyostelium) 2
  • PLB Homolog 1 3
  • EC 3.1.1.- 4
  • FLJ22662 2
  • EC 3.1.1 51
  • PLBD1 5

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. Diseases associated with PLBD1 include 45,X/46,Xy Mixed Gonadal Dysgenesis. Among its related pathways are Acyl chain remodelling of PE and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is PLBD2.

UniProtKB/Swiss-Prot Summary 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.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLBD1 Gene

Genomics for PLBD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLBD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLBD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLBD1

Top Transcription factor binding sites by QIAGEN in the PLBD1 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for PLBD1 Gene

Genomic Locations for PLBD1 Gene
chr12:14,503,661-14,567,883
(GRCh38/hg38)
Size:
64,223 bases
Orientation:
Minus strand
chr12:14,656,595-14,721,283
(GRCh37/hg19)
Size:
64,689 bases
Orientation:
Minus strand

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 Asn71, Asn308, Asn366, Asn411, and Asn526
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PLBL1_HUMAN (1603)

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

Protein Domains for PLBD1 Gene

Suggested Antigen Peptide Sequences for PLBD1 Gene

GenScript: Design optimal peptide antigens:
  • Phospholipase B domain-containing protein 1 (PLBL1_HUMAN)

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 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.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 7.4. {ECO:0000269|PubMed:19019078};

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:0004620 phospholipase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PLBD1: view
genes like me logo Genes that share phenotypes with PLBD1: view

Animal Models for PLBD1 Gene

MGI Knock Outs for PLBD1:
  • Plbd1 Plbd1<tm1a(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for PLBD1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLBD1

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 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
golgi apparatus 1
endoplasmic reticulum 0

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

mRNA/cDNA for PLBD1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 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 PLBD1

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

No ASD Table

Relevant External Links for PLBD1 Gene

GeneLoc Exon Structure for
PLBD1

Expression for PLBD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PLBD1 Gene



Protein tissue co-expression partners for PLBD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Intestine(4.3)
  • Liver(4.2)
  • Spleen(2.4)
  • Bone marrow(2.3)
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 30 31
  • 99.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLBD1 30 31
  • 89.81 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLBD1 30 31
  • 88.13 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Plbd1 30 17 31
  • 80.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plbd1 30
  • 80.18 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PLBD1 31
  • 63 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PLBD1 31
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLBD1 30 31
  • 70.84 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLBD1 31
  • 67 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii plbd1 30 31
  • 60.41 (n)
OneToMany
PLBD1 (2 of 2) 31
  • 54 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.844 30
Fruit Fly
(Drosophila melanogaster)
Insecta lama 31
  • 16 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y37D8A.2 31
  • 31 (a)
ManyToMany
F09B12.3 31
  • 29 (a)
ManyToMany
Y54F10AM.8 31
  • 28 (a)
ManyToMany
Species where no ortholog for PLBD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PLBD1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLBD1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs1600 - p.Pro534Ala
rs2287541 - p.Val377Ala
rs7957558 - p.Val265Ile

Additional dbSNP identifiers (rs#s) for PLBD1 Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for PLBD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
45,x/46,xy mixed gonadal dysgenesis
  • 45,x/46,xy mgd
- elite association - COSMIC cancer census association via MalaCards
Search PLBD1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with PLBD1: view

No data available for 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
  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
  3. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3

Products for PLBD1 Gene

Sources for PLBD1 Gene