UniProtKB - O94903 (PLPHP_HUMAN)
Protein
Pyridoxal phosphate homeostasis protein
Gene
PLPBP
Organism
Homo sapiens (Human)
Status
Functioni
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.UniRule annotation1 Publication
GO - Molecular functioni
- pyridoxal phosphate binding Source: GO_Central
Keywordsi
Ligand | Pyridoxal phosphate |
Names & Taxonomyi
Protein namesi | Recommended name: Pyridoxal phosphate homeostasis proteinUniRule annotationShort name: PLP homeostasis proteinUniRule annotation Alternative name(s): Proline synthase co-transcribed bacterial homolog proteinUniRule annotation Pyridoxal phosphate-binding proteinImported |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000147471.11 |
HGNCi | HGNC:9457 PLPBP |
MIMi | 604436 gene |
neXtProti | NX_O94903 |
Subcellular locationi
Other locations
- cytoplasm Source: UniProtKB
- intracellular Source: LIFEdb
Pathology & Biotechi
Involvement in diseasei
Epilepsy, early-onset, vitamin B6-dependent (EPVB6D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:617290Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078004 | 71 – 275 | Missing in EPVB6D. 1 PublicationAdd BLAST | 205 | |
Natural variantiVAR_078005 | 78 – 275 | Missing in EPVB6D; decreased expression at the mRNA level; undetectable at the protein level in patient's fibroblasts. 1 PublicationAdd BLAST | 198 | |
Natural variantiVAR_078006 | 87 | P → L in EPVB6D. 1 PublicationCorresponds to variant dbSNP:rs755946598EnsemblClinVar. | 1 | |
Natural variantiVAR_078007 | 175 | L → P in EPVB6D; decreased expression at the mRNA level; undetectable at the protein level in patient's fibroblasts. 1 PublicationCorresponds to variant dbSNP:rs752753379EnsemblClinVar. | 1 | |
Natural variantiVAR_078008 | 241 | R → Q in EPVB6D. 1 PublicationCorresponds to variant dbSNP:rs760609867EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, EpilepsyOrganism-specific databases
DisGeNETi | 11212 |
MalaCardsi | PLPBP |
MIMi | 617290 phenotype |
OpenTargetsi | ENSG00000147471 |
Orphaneti | 3006 Pyridoxine-dependent epilepsy |
PharmGKBi | PA33810 |
Chemistry databases
DrugBanki | DB00172 L-Proline DB00114 Pyridoxal Phosphate |
Polymorphism and mutation databases
BioMutai | PLPBP |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000163210 | 1 – 275 | Pyridoxal phosphate homeostasis proteinAdd BLAST | 275 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 6 | PhosphoserineCombined sources | 1 | |
Modified residuei | 47 | N6-(pyridoxal phosphate)lysineUniRule annotation | 1 | |
Modified residuei | 69 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 125 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 226 | PhosphoserineCombined sources | 1 | |
Modified residuei | 244 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O94903 |
jPOSTi | O94903 |
MaxQBi | O94903 |
PaxDbi | O94903 |
PeptideAtlasi | O94903 |
PRIDEi | O94903 |
ProteomicsDBi | 50537 |
2D gel databases
UCD-2DPAGEi | O94903 |
PTM databases
iPTMneti | O94903 |
PhosphoSitePlusi | O94903 |
Expressioni
Tissue specificityi
Ubiquitous.
Gene expression databases
Bgeei | ENSG00000147471 Expressed in 241 organ(s), highest expression level in upper lobe of lung |
ExpressionAtlasi | O94903 baseline and differential |
Genevisiblei | O94903 HS |
Organism-specific databases
HPAi | CAB017033 HPA023646 HPA023733 |
Interactioni
Protein-protein interaction databases
BioGridi | 116381, 68 interactors |
IntActi | O94903, 14 interactors |
STRINGi | 9606.ENSP00000333551 |
Structurei
3D structure databases
ProteinModelPortali | O94903 |
SMRi | O94903 |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the pyridoxal phosphate-binding protein YggS/PROSC family.UniRule annotation
Phylogenomic databases
eggNOGi | KOG3157 Eukaryota COG0325 LUCA |
GeneTreei | ENSGT00390000004928 |
HOVERGENi | HBG053692 |
InParanoidi | O94903 |
KOi | K06997 |
OMAi | LQWHFIG |
OrthoDBi | 1423577at2759 |
PhylomeDBi | O94903 |
TreeFami | TF314637 |
Family and domain databases
Gene3Di | 3.20.20.10, 1 hit |
HAMAPi | MF_02087 PLP_homeostasis, 1 hit |
InterProi | View protein in InterPro IPR001608 Ala_racemase_N IPR029066 PLP-binding_barrel IPR011078 PyrdxlP_homeostasis |
PANTHERi | PTHR10146 PTHR10146, 1 hit |
Pfami | View protein in Pfam PF01168 Ala_racemase_N, 1 hit |
PIRSFi | PIRSF004848 YBL036c_PLPDEIII, 1 hit |
SUPFAMi | SSF51419 SSF51419, 1 hit |
TIGRFAMsi | TIGR00044 TIGR00044, 1 hit |
PROSITEi | View protein in PROSITE PS01211 UPF0001, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
O94903-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MWRAGSMSAE LGVGCALRAV NERVQQAVAR RPRDLPAIQP RLVAVSKTKP
60 70 80 90 100
ADMVIEAYGH GQRTFGENYV QELLEKASNP KILSLCPEIK WHFIGHLQKQ
110 120 130 140 150
NVNKLMAVPN LFMLETVDSV KLADKVNSSW QRKGSPERLK VMVQINTSGE
160 170 180 190 200
ESKHGLPPSE TIAIVEHINA KCPNLEFVGL MTIGSFGHDL SQGPNPDFQL
210 220 230 240 250
LLSLREELCK KLNIPADQVE LSMGMSADFQ HAVEVGSTNV RIGSTIFGER
260 270
DYSKKPTPDK CAADVKAPLE VAQEH
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE5RFX7 | E5RFX7_HUMAN | Pyridoxal phosphate homeostasis pro... | PLPBP | 137 | Annotation score: | ||
E5RG77 | E5RG77_HUMAN | Pyridoxal phosphate homeostasis pro... | PLPBP | 152 | Annotation score: | ||
H0YBG2 | H0YBG2_HUMAN | Pyridoxal phosphate homeostasis pro... | PLPBP | 128 | Annotation score: | ||
E5RFZ4 | E5RFZ4_HUMAN | Pyridoxal phosphate homeostasis pro... | PLPBP | 74 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052476 | 24 | V → M. Corresponds to variant dbSNP:rs35423325EnsemblClinVar. | 1 | |
Natural variantiVAR_078004 | 71 – 275 | Missing in EPVB6D. 1 PublicationAdd BLAST | 205 | |
Natural variantiVAR_078005 | 78 – 275 | Missing in EPVB6D; decreased expression at the mRNA level; undetectable at the protein level in patient's fibroblasts. 1 PublicationAdd BLAST | 198 | |
Natural variantiVAR_078006 | 87 | P → L in EPVB6D. 1 PublicationCorresponds to variant dbSNP:rs755946598EnsemblClinVar. | 1 | |
Natural variantiVAR_078007 | 175 | L → P in EPVB6D; decreased expression at the mRNA level; undetectable at the protein level in patient's fibroblasts. 1 PublicationCorresponds to variant dbSNP:rs752753379EnsemblClinVar. | 1 | |
Natural variantiVAR_078008 | 241 | R → Q in EPVB6D. 1 PublicationCorresponds to variant dbSNP:rs760609867EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB018566 Genomic DNA Translation: BAA36842.1 AL136616 mRNA Translation: CAB66551.1 CR533532 mRNA Translation: CAG38563.1 BC012334 mRNA Translation: AAH12334.1 |
CCDSi | CCDS6096.1 |
RefSeqi | NP_009129.1, NM_007198.3 |
UniGenei | Hs.304792 Hs.608177 |
Genome annotation databases
Ensembli | ENST00000328195; ENSP00000333551; ENSG00000147471 |
GeneIDi | 11212 |
KEGGi | hsa:11212 |
UCSCi | uc003xkh.4 human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB018566 Genomic DNA Translation: BAA36842.1 AL136616 mRNA Translation: CAB66551.1 CR533532 mRNA Translation: CAG38563.1 BC012334 mRNA Translation: AAH12334.1 |
CCDSi | CCDS6096.1 |
RefSeqi | NP_009129.1, NM_007198.3 |
UniGenei | Hs.304792 Hs.608177 |
3D structure databases
ProteinModelPortali | O94903 |
SMRi | O94903 |
ModBasei | Search... |
MobiDBi | Search... |
Protein-protein interaction databases
BioGridi | 116381, 68 interactors |
IntActi | O94903, 14 interactors |
STRINGi | 9606.ENSP00000333551 |
Chemistry databases
DrugBanki | DB00172 L-Proline DB00114 Pyridoxal Phosphate |
PTM databases
iPTMneti | O94903 |
PhosphoSitePlusi | O94903 |
Polymorphism and mutation databases
BioMutai | PLPBP |
2D gel databases
UCD-2DPAGEi | O94903 |
Proteomic databases
EPDi | O94903 |
jPOSTi | O94903 |
MaxQBi | O94903 |
PaxDbi | O94903 |
PeptideAtlasi | O94903 |
PRIDEi | O94903 |
ProteomicsDBi | 50537 |
Protocols and materials databases
DNASUi | 11212 |
Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembli | ENST00000328195; ENSP00000333551; ENSG00000147471 |
GeneIDi | 11212 |
KEGGi | hsa:11212 |
UCSCi | uc003xkh.4 human |
Organism-specific databases
CTDi | 11212 |
DisGeNETi | 11212 |
EuPathDBi | HostDB:ENSG00000147471.11 |
GeneCardsi | PLPBP |
HGNCi | HGNC:9457 PLPBP |
HPAi | CAB017033 HPA023646 HPA023733 |
MalaCardsi | PLPBP |
MIMi | 604436 gene 617290 phenotype |
neXtProti | NX_O94903 |
OpenTargetsi | ENSG00000147471 |
Orphaneti | 3006 Pyridoxine-dependent epilepsy |
PharmGKBi | PA33810 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3157 Eukaryota COG0325 LUCA |
GeneTreei | ENSGT00390000004928 |
HOVERGENi | HBG053692 |
InParanoidi | O94903 |
KOi | K06997 |
OMAi | LQWHFIG |
OrthoDBi | 1423577at2759 |
PhylomeDBi | O94903 |
TreeFami | TF314637 |
Miscellaneous databases
ChiTaRSi | PROSC human |
GeneWikii | PROSC |
GenomeRNAii | 11212 |
PROi | PR:O94903 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000147471 Expressed in 241 organ(s), highest expression level in upper lobe of lung |
ExpressionAtlasi | O94903 baseline and differential |
Genevisiblei | O94903 HS |
Family and domain databases
Gene3Di | 3.20.20.10, 1 hit |
HAMAPi | MF_02087 PLP_homeostasis, 1 hit |
InterProi | View protein in InterPro IPR001608 Ala_racemase_N IPR029066 PLP-binding_barrel IPR011078 PyrdxlP_homeostasis |
PANTHERi | PTHR10146 PTHR10146, 1 hit |
Pfami | View protein in Pfam PF01168 Ala_racemase_N, 1 hit |
PIRSFi | PIRSF004848 YBL036c_PLPDEIII, 1 hit |
SUPFAMi | SSF51419 SSF51419, 1 hit |
TIGRFAMsi | TIGR00044 TIGR00044, 1 hit |
PROSITEi | View protein in PROSITE PS01211 UPF0001, 1 hit |
ProtoNeti | Search... |
Entry informationi
Entry namei | PLPHP_HUMAN | |
Accessioni | O94903Primary (citable) accession number: O94903 Secondary accession number(s): Q6FI94 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 11, 2001 |
Last sequence update: | May 1, 1999 | |
Last modified: | February 13, 2019 | |
This is version 164 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- SIMILARITY comments
Index of protein domains and families - Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations