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Aliases for PLPBP Gene

Aliases for PLPBP Gene

  • Pyridoxal Phosphate Binding Protein 2 3 5
  • Proline Synthase Co-Transcribed Bacterial Homolog Protein 3 4
  • PLP Homeostasis Protein 3 4
  • PROSC 3 4
  • Proline Synthetase Co-Transcribed Bacterial Homolog Protein 3
  • Proline Synthetase Co-Transcribed (Bacterial Homolog) 2
  • Proline Synthetase Cotranscribed Homolog (Bacterial) 2
  • Pyridoxal Phosphate Homeostasis Protein 3
  • Pyridoxal Phosphate-Binding Protein 4
  • EPVB6D 3

External Ids for PLPBP Gene

Previous HGNC Symbols for PLPBP Gene

  • PROSC

Summaries for PLPBP Gene

Entrez Gene Summary for PLPBP Gene

  • This gene encodes a pyridoxal 5'-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5'-phosphate. This gene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial origin. Naturally occurring mutations in this gene are associated with a pyridoxine-dependent epilepsy. [provided by RefSeq, Mar 2017]

GeneCards Summary for PLPBP Gene

PLPBP (Pyridoxal Phosphate Binding Protein) is a Protein Coding gene. Diseases associated with PLPBP include Epilepsy, Early-Onset, Vitamin B6-Dependent and Epilepsy, Pyridoxine-Dependent.

UniProtKB/Swiss-Prot for PLPBP Gene

  • Pyridoxal 5-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5-phosphate (PLP), the active form of vitamin B6.

Gene Wiki entry for PLPBP Gene

Additional gene information for PLPBP Gene

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

Genomics for PLPBP Gene

GeneHancer (GH) Regulatory Elements for PLPBP Gene

Promoters and enhancers for PLPBP 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
GH08I037761 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 555.4 +0.3 304 2.2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 ZNF143 PLPBP DDHD2 ERLIN2 ADGRA2 ASH2L ENSG00000255201 BRF2 LOC728024 LOC102723701 RAB11FIP1
GH08I037796 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8 +38.2 38196 9.3 PKNOX1 ATF1 ARNT ZNF133 SIN3A ZNF2 ZNF213 ZNF143 ATF7 TSHZ1 ADGRA2 GOT1L1 RAB11FIP1 PLPBP GC08M037706 GC08P037815
GH08I037915 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +153.5 153515 1.8 ARID4B SIN3A ZNF2 IRF4 ARID2 ZNF143 RUNX3 DEK NCOA1 REST GOT1L1 PLPBP RNU6-323P RN7SL709P PIR49654
GH08I037869 Enhancer 1.3 Ensembl ENCODE dbSUPER 11 +110.2 110167 6.1 HDGF PKNOX1 BMI1 BATF IRF4 ZNF366 ZNF143 ATF7 RCOR1 ETV6 RAB11FIP1 ADGRA2 GOT1L1 EIF4EBP1 PLPBP ENSG00000280064
GH08I037720 Enhancer 0.4 ENCODE 10.3 -41.6 -41638 0.7 SP1 POLR2A NFE2 ZNF703 ENSG00000253344 PLPBP LOC105379379 ENSG00000253414 LOC101929622 ERLIN2 GC08M037706
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLPBP on UCSC Golden Path with GeneCards custom track

Genomic Locations for PLPBP Gene

Genomic Locations for PLPBP Gene
chr8:37,762,583-37,779,768
(GRCh38/hg38)
Size:
17,186 bases
Orientation:
Plus strand
chr8:37,620,101-37,637,286
(GRCh37/hg19)

Genomic View for PLPBP Gene

Genes around PLPBP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PLPBP Gene

Proteins for PLPBP Gene

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

    Protein Symbol:
    O94903-PLPHP_HUMAN
    Recommended name:
    Pyridoxal phosphate homeostasis protein
    Protein Accession:
    O94903
    Secondary Accessions:
    • Q6FI94

    Protein attributes for PLPBP Gene

    Size:
    275 amino acids
    Molecular mass:
    30344 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PLPBP Gene

Post-translational modifications for PLPBP Gene

No Post-translational modifications

No data available for DME Specific Peptides for PLPBP Gene

Domains & Families for PLPBP Gene

Gene Families for PLPBP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O94903

UniProtKB/Swiss-Prot:

PLPHP_HUMAN :
  • Belongs to the pyridoxal phosphate-binding protein YggS/PROSC family.
Family:
  • Belongs to the pyridoxal phosphate-binding protein YggS/PROSC family.
genes like me logo Genes that share domains with PLPBP: view

Function for PLPBP Gene

Molecular function for PLPBP Gene

UniProtKB/Swiss-Prot Function:
Pyridoxal 5-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5-phosphate (PLP), the active form of vitamin B6.

Phenotypes From GWAS Catalog for PLPBP Gene

Gene Ontology (GO) - Molecular Function for PLPBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030170 pyridoxal phosphate binding IEA,IBA --
genes like me logo Genes that share ontologies with PLPBP: view
genes like me logo Genes that share phenotypes with PLPBP: view

Human Phenotype Ontology for PLPBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PLPBP Gene

Localization for PLPBP 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 PLPBP gene
Compartment Confidence
extracellular 5
cytosol 4
mitochondrion 3
nucleus 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLPBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005737 cytoplasm NAS 10496079
GO:0005739 mitochondrion IEA --
GO:0070062 extracellular exosome HDA,IDA 23376485
genes like me logo Genes that share ontologies with PLPBP: view

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

Pathways & Interactions for PLPBP Gene

SuperPathways for PLPBP Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLPBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with PLPBP: view

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

Drugs & Compounds for PLPBP Gene

(2) Drugs for PLPBP Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Proline Approved Nutra Target 0
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 17
genes like me logo Genes that share compounds with PLPBP: view

Transcripts for PLPBP Gene

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for PLPBP Gene

GeneLoc Exon Structure for
PLPBP
ECgene alternative splicing isoforms for
PLPBP

Expression for PLPBP Gene

NURSA nuclear receptor signaling pathways regulating expression of PLPBP Gene:

PLPBP

mRNA Expression by UniProt/SwissProt for PLPBP Gene:

O94903-PLPHP_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PLPBP Gene

  • Nervous system(4.7)
  • Liver(4.4)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLPBP Gene

Orthologs for PLPBP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLPBP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PROSC 34 33
  • 99.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PROSC 33
  • 89.94 (n)
-- 34
  • 86 (a)
OneToMany
-- 34
  • 81 (a)
OneToMany
cow
(Bos Taurus)
Mammalia PROSC 33 34
  • 86.57 (n)
mouse
(Mus musculus)
Mammalia Prosc 34 33
  • 84.55 (n)
OneToOne
Plpbp 16
rat
(Rattus norvegicus)
Mammalia Prosc 33
  • 83.88 (n)
oppossum
(Monodelphis domestica)
Mammalia PROSC 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PROSC 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves PROSC 33 34
  • 74.66 (n)
lizard
(Anolis carolinensis)
Reptilia PROSC 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prosc 33
  • 67.81 (n)
Str.18617 33
zebrafish
(Danio rerio)
Actinopterygii prosc 33 34
  • 67.71 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3436 33
fruit fly
(Drosophila melanogaster)
Insecta CG1983 33 34
  • 56.34 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001621 33
  • 55.33 (n)
worm
(Caenorhabditis elegans)
Secernentea F09E5.8 33 34
  • 53.08 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YBL036C 33
  • 50.51 (n)
-- 34
  • 38 (a)
OneToOne
-- 36
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B12265g 33
  • 47.92 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL301C 33
  • 47.17 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G11930 33
  • 56.93 (n)
rice
(Oryza sativa)
Liliopsida Os05g0150000 33
  • 57.65 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC644.09 33
  • 51.56 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03579 33
  • 49.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToOne
Species where no ortholog for PLPBP was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for PLPBP Gene

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

Paralogs for PLPBP Gene

No data available for Paralogs for PLPBP Gene

Variants for PLPBP Gene

Sequence variations from dbSNP and Humsavar for PLPBP Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1057519273 pathogenic, Epilepsy, early-onset, vitamin b6-dependent 37,765,736(+) C/G coding_sequence_variant, stop_gained
rs1057519424 pathogenic, Epilepsy, early-onset, vitamin b6-dependent 37,772,753(+) A/G genic_downstream_transcript_variant, splice_acceptor_variant
rs752753379 pathogenic, Epilepsy, early-onset, vitamin b6-dependent, Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) [MIM:617290] 37,775,408(+) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs755946598 pathogenic, Epilepsy, early-onset, vitamin b6-dependent, Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) [MIM:617290] 37,766,296(+) C/T coding_sequence_variant, missense_variant
rs760609867 pathogenic, Epilepsy, early-onset, vitamin b6-dependent, Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) [MIM:617290] 37,777,998(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv509261 CNV insertion 20534489

Variation tolerance for PLPBP Gene

Residual Variation Intolerance Score: 40.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLPBP Gene

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

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

Disorders for PLPBP Gene

MalaCards: The human disease database

(3) MalaCards diseases for PLPBP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, early-onset, vitamin b6-dependent
  • epvb6d
epilepsy, pyridoxine-dependent
  • epd
epilepsy
  • epilepsy syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PLPBP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLPHP_HUMAN
  • Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) [MIM:617290]: An autosomal recessive neurologic disorder characterized by seizures responsive to treatment with activated vitamin B6 and/or pyridoxine. Most patients show delayed psychomotor development, mental retardation and learning disability. Seizures onset is in the first days or months of life. {ECO:0000269 PubMed:27912044}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with PLPBP: view

No data available for Genatlas for PLPBP Gene

Publications for PLPBP Gene

  1. Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. (PMID: 27912044) Darin N … Clayton PT (American journal of human genetics 2016) 2 3 4 58
  2. Cloning and characterization of human and mouse PROSC (proline synthetase co-transcribed) genes. (PMID: 10496079) Ikegawa S … Nakamura Y (Journal of human genetics 1999) 3 4 22 58
  3. 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 58
  4. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for PLPBP Gene

Sources for PLPBP Gene

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