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Aliases for PLPBP Gene

Aliases for PLPBP Gene

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

Gene Wiki entry for PLPBP Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLPBP Gene

Genomics for PLPBP Gene

Regulatory Elements for PLPBP Gene

Enhancers for PLPBP 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
GH08G037915 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +153.5 153515 1.8 HDAC1 RB1 ARID4B KLF17 ZNF2 RAD21 ZNF366 ZNF143 CREM DEK GOT1L1 PLPBP RNU6-323P RN7SL709P PIR49654
GH08G037869 1.4 Ensembl ENCODE dbSUPER 11 +110.2 110168 6.1 HDGF PKNOX1 SIN3A FEZF1 ZNF143 FOS JUNB TBX21 ZSCAN16 GLIS1 RAB11FIP1 DDHD2 ADGRA2 GOT1L1 EIF4EBP1 PLPBP LOC102723716 ENSG00000280064
GH08G037796 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8 +38.2 38196 9.3 PKNOX1 ATF1 ARNT ZNF133 SIN3A ZNF2 ZNF143 ZNF263 TSHZ1 REST GOT1L1 RAB11FIP1 PLPBP ADGRA2 GC08M037706 GC08P037815
GH08G037720 0.6 ENCODE 10.3 -41.6 -41639 0.7 ZNF664 TEAD4 NR3C1 NFE2 RBBP5 MAFK ZNF703 ENSG00000253344 PLPBP LOC105379379 ENSG00000253414 LOC101929622 ERLIN2
GH08G037761 1.1 ENCODE 5.3 +0.3 340 2.1 PKNOX1 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 DDHD2 BRF2 ADGRA2 ERLIN2 LOC102723701 RAB11FIP1 ENSG00000255201 PLPBP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLPBP on UCSC Golden Path with GeneCards custom track

Promoters for PLPBP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000223563 117 1801 PKNOX1 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1

Genomic Location for PLPBP Gene

Chromosome:
8
Start:
37,762,583 bp from pter
End:
37,779,768 bp from pter
Size:
17,186 bases
Orientation:
Plus strand

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-PROSC_HUMAN
    Recommended name:
    Proline synthase co-transcribed bacterial homolog protein
    Protein Accession:
    O94903
    Secondary Accessions:
    • Q6FI94

    Protein attributes for PLPBP Gene

    Size:
    275 amino acids
    Molecular mass:
    30344 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    No Data Available

neXtProt entry for PLPBP Gene

Post-translational modifications for PLPBP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLPBP Gene

Domains & Families for PLPBP Gene

Graphical View of Domain Structure for InterPro Entry

O94903

UniProtKB/Swiss-Prot:

PROSC_HUMAN :
  • Belongs to the UPF0001 family.
Family:
  • Belongs to the UPF0001 family.
genes like me logo Genes that share domains with PLPBP: view

No data available for Gene Families for PLPBP Gene

Function for PLPBP Gene

Gene Ontology (GO) - Molecular Function for PLPBP Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

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 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 Nutra Target, cofactor 15
genes like me logo Genes that share compounds with PLPBP: view

Transcripts for PLPBP Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry 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-PROSC_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 35
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia PROSC 34
  • 89.94 (n)
-- 35
  • 86 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
cow
(Bos Taurus)
Mammalia PROSC 34 35
  • 86.57 (n)
mouse
(Mus musculus)
Mammalia Prosc 34 16 35
  • 84.55 (n)
rat
(Rattus norvegicus)
Mammalia Prosc 34
  • 83.88 (n)
oppossum
(Monodelphis domestica)
Mammalia PROSC 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PROSC 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves PROSC 34 35
  • 74.66 (n)
lizard
(Anolis carolinensis)
Reptilia PROSC 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prosc 34
  • 67.81 (n)
Str.18617 34
zebrafish
(Danio rerio)
Actinopterygii prosc 34 35
  • 67.71 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3436 34
fruit fly
(Drosophila melanogaster)
Insecta CG1983 34 35
  • 56.34 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001621 34
  • 55.33 (n)
worm
(Caenorhabditis elegans)
Secernentea F09E5.8 34 35
  • 53.08 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YBL036C 34
  • 50.51 (n)
-- 35
  • 38 (a)
OneToOne
-- 37
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B12265g 34
  • 47.92 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL301C 34
  • 47.17 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G11930 34
  • 56.93 (n)
rice
(Oryza sativa)
Liliopsida Os05g0150000 34
  • 57.65 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC644.09 34
  • 51.56 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03579 34
  • 49.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
VAR_078006 Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) [MIM:617290]
VAR_078007 Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) [MIM:617290]
VAR_078008 Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) [MIM:617290]
rs1057519273 Pathogenic 37,765,736(+) AGCAT(C/G)AAATC reference, stop-gained
rs1057519424 Pathogenic 37,772,753(+) ATTAC(A/G)GCTGT splice-acceptor-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)

Relevant External Links for PLPBP Gene

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

(1) MalaCards diseases for PLPBP Gene - From: ClinVar, GeneTests, Swiss-Prot, and GeneCards

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

Relevant External Links for PLPBP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLPBP
genes like me logo Genes that share disorders with PLPBP: view

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

Publications for PLPBP Gene

  1. Cloning and characterization of human and mouse PROSC (proline synthetase co-transcribed) genes. (PMID: 10496079) Ikegawa S. … Nakamura Y. (J. Hum. Genet. 1999) 3 4 22 64
  2. Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. (PMID: 27912044) Darin N. … Clayton P.T. (Am. J. Hum. Genet. 2016) 2 3 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Towards 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 Res. 2001) 3 4 64
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64

Products for PLPBP Gene

Sources for PLPBP Gene

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