Aliases for PBLD Gene

Aliases for PBLD Gene

  • Phenazine Biosynthesis Like Protein Domain Containing 2 3 5
  • MAWDBP 2 3 4
  • MAWBP 2 3 4
  • Phenazine Biosynthesis-Like Domain-Containing Protein 3 4
  • MAWD-Binding Protein 3 4
  • Phenazine Biosynthesis-Like Protein Domain Containing 2
  • Unknown Protein 32 From 2D-Page Of Liver Tissue 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Epididymis Secretory Protein Li 306 3
  • EC 5.1.-.- 4
  • HEL-S-306 3
  • FLJ14767 2
  • PBLD 5

External Ids for PBLD Gene

Previous GeneCards Identifiers for PBLD Gene

  • GC10M069713
  • GC10M070042
  • GC10M064042

Summaries for PBLD Gene

CIViC Summary for PBLD Gene

GeneCards Summary for PBLD Gene

PBLD (Phenazine Biosynthesis Like Protein Domain Containing) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include isomerase activity.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PBLD Gene

Genomics for PBLD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PBLD 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
GH10J068327 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 252.7 +0.6 584 9.5 BCLAF1 SP1 ZNF207 NCOR1 ZNF600 IKZF1 MYC ZNF580 ZNF592 KLF9 HNRNPH3 PBLD HSALNG0078513 CCAR1 HERC4 DDX50 SIRT1 DNA2 RPL26P27 TET1
GH10J068303 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 261.6 +27.4 27350 3.6 YY1 FOXA2 RXRA RARA ZBTB33 JUND HNF4A HMG20A FOXA1 RAD21 PBLD HSALNG0078512 LINC02640 SIRT1 ATOH7 HNRNPH3 CCAR1 DNA2 RUFY2 piR-50437-061
GH10J068230 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 9.9 +101.6 101648 1.6 MYC ZNF600 ZNF580 ZNF10 POLR2A ZIC2 ZBTB10 BHLHE40 ZEB1 MAX ATOH7 PBLD HSALNG0078504 MYPN
GH10J068261 Enhancer 0.6 ENCODE 21 +71.6 71573 0.8 NFIC ZIC2 FEZF1 SMAD4 THRB GLIS1 NFIA KLF1 ZBTB8A EGR2 HSALNG0078509 KRT19P4 RF00989-001 lnc-MYPN-2 PBLD ATOH7 LINC02640 HNRNPH3 HSALNG0078508
GH10J069085 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.8 -757.1 -757077 9 BCLAF1 SP1 ZNF207 MYC NCOR1 ZNF654 IKZF1 ZNF592 ZMYM3 POLR2A SRGN DDX21 SUPV3L1 HKDC1 PBLD LOC101928994 TACR2 VPS26A NONHSAG006100.2 lnc-TACR2-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the PBLD gene promoter:
  • AML1a
  • Evi-1
  • HOXA3
  • MZF-1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Pbx1a

Genomic Locations for PBLD Gene

Latest Assembly
chr10:68,282,660-68,333,049
(GRCh38/hg38)
Size:
50,390 bases
Orientation:
Minus strand

Previous Assembly
chr10:70,042,417-70,092,685
(GRCh37/hg19 by Entrez Gene)
Size:
50,269 bases
Orientation:
Minus strand

chr10:70,042,417-70,092,806
(GRCh37/hg19 by Ensembl)
Size:
50,390 bases
Orientation:
Minus strand

Genomic View for PBLD Gene

Genes around PBLD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PBLD Gene

Proteins for PBLD Gene

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

    Protein Symbol:
    P30039-PBLD_HUMAN
    Recommended name:
    Phenazine biosynthesis-like domain-containing protein
    Protein Accession:
    P30039
    Secondary Accessions:
    • A8MZJ3
    • C9JIM0
    • Q9HCC2

    Protein attributes for PBLD Gene

    Size:
    288 amino acids
    Molecular mass:
    31785 Da
    Quaternary structure:
    • Interacts with UNRIP/MAWD.
    SequenceCaution:
    • Sequence=BAB55285.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for PBLD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PBLD Gene

Post-translational modifications for PBLD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PBLD Gene

Domains & Families for PBLD Gene

Gene Families for PBLD Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PBLD Gene

InterPro:
Blocks:
  • Phenazine biosynthesis PhzC/PhzF protein

Suggested Antigen Peptide Sequences for PBLD Gene

GenScript: Design optimal peptide antigens:
  • Unknown protein 32 from 2D-page of liver tissue (PBLD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30039

UniProtKB/Swiss-Prot:

PBLD_HUMAN :
  • Belongs to the PhzF family.
Family:
  • Belongs to the PhzF family.
genes like me logo Genes that share domains with PBLD: view

Function for PBLD Gene

Enzyme Numbers (IUBMB) for PBLD Gene

Phenotypes From GWAS Catalog for PBLD Gene

Gene Ontology (GO) - Molecular Function for PBLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0016853 isomerase activity IBA 21873635
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with PBLD: view

Phenotypes for PBLD Gene

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

Inhibitory RNAs for research

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

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PBLD Gene

Localization for PBLD Gene

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 PBLD gene
Compartment Confidence
extracellular 4
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PBLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 17929853
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with PBLD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PBLD Gene

Pathways & Interactions for PBLD Gene

PathCards logo

SuperPathways for PBLD Gene

No Data Available

Gene Ontology (GO) - Biological Process for PBLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009058 biosynthetic process IEA --
GO:0010633 negative regulation of epithelial cell migration IMP 23687415
GO:0010719 negative regulation of epithelial to mesenchymal transition IMP 23687415
GO:0030277 maintenance of gastrointestinal epithelium IMP 17929853
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IMP 23687415
genes like me logo Genes that share ontologies with PBLD: view

No data available for Pathways by source and SIGNOR curated interactions for PBLD Gene

Drugs & Compounds for PBLD Gene

No Compound Related Data Available

Transcripts for PBLD Gene

mRNA/cDNA for PBLD Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10
SP1: - - -
SP2: - -
SP3: - -
SP4:

Relevant External Links for PBLD Gene

GeneLoc Exon Structure for
PBLD

Expression for PBLD Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x15.1) and Kidney - Cortex (x6.4).

Protein differential expression in normal tissues from HIPED for PBLD Gene

This gene is overexpressed in Kidney (15.2), Liver, secretome (14.0), Liver (10.5), Fetal Liver (9.0), and Fetal gut (8.1).

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



Protein tissue co-expression partners for PBLD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PBLD

SOURCE GeneReport for Unigene cluster for PBLD Gene:

Hs.198158

Evidence on tissue expression from TISSUES for PBLD Gene

  • Liver(4.5)
  • Lung(4.1)
  • Kidney(2.9)
genes like me logo Genes that share expression patterns with PBLD: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PBLD Gene

Orthologs for PBLD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PBLD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PBLD 29 30
  • 99.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PBLD 29 30
  • 88.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PBLD 29 30
  • 86.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pbld2 30
  • 81 (a)
OneToMany
Pbld1 29 16 30
  • 80.32 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Pbld1 29
  • 80.56 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PBLD 30
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PBLD 30
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PBLD 29 30
  • 71.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 70 (a)
OneToMany
-- 30
  • 48 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii zgc:112210 29
  • 61.03 (n)
PBLD (1 of 2) 30
  • 56 (a)
OneToMany
PBLD (2 of 2) 30
  • 56 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9410 29
Worm
(Caenorhabditis elegans)
Secernentea CELE_T04A11.2 29
  • 51.35 (n)
T04A11.5 30
  • 38 (a)
OneToMany
T04A11.2 30
  • 38 (a)
OneToMany
T04A11.1 30
  • 36 (a)
OneToMany
T04A11.4 30
  • 36 (a)
OneToMany
R02D1.2 30
  • 35 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YHI9 30 32
  • 27 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G02860 29
  • 48.54 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0266500 29
  • 48.63 (n)
Species where no ortholog for PBLD 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for PBLD Gene

ENSEMBL:
Gene Tree for PBLD (if available)
TreeFam:
Gene Tree for PBLD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PBLD: view image
Alliance of Genome Resources:
Additional Orthologs for PBLD

Paralogs for PBLD Gene

Pseudogenes.org Pseudogenes for PBLD Gene

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

No data available for Paralogs for PBLD Gene

Variants for PBLD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PBLD Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs12359690 -- p.Arg17Cys
rs4142048 -- p.His257Arg
rs756247151 -- p.Ser62Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PBLD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv150e199 CNV deletion 23128226
dgv158n67 CNV loss 20364138
esv2738017 CNV deletion 23290073
esv3546453 CNV deletion 23714750
esv3623705 CNV gain 21293372
esv3623707 CNV gain 21293372
esv3623712 CNV loss 21293372
esv3623713 CNV loss 21293372
nsv1127117 CNV deletion 24896259
nsv437125 CNV loss 16327808
nsv517615 CNV loss 19592680

Variation tolerance for PBLD Gene

Residual Variation Intolerance Score: 39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.85; 58.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PBLD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PBLD
Leiden Open Variation Database (LOVD)
PBLD

SNP Genotyping and Copy Number Assays for research

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

Disorders for PBLD Gene

Additional Disease Information for PBLD

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for PBLD Gene.

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

Publications for PBLD Gene

  1. Cloning and sequencing of a novel human gene which encodes a putative hydroxylase. (PMID: 11355021) Iriyama C … Hamaguchi M (Journal of human genetics 2001) 2 3 4
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 40
  3. Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family. (PMID: 15806103) van Dijk M … Oudejans CB (Nature genetics 2005) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for PBLD Gene

Sources for PBLD Gene