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Protein

Pyridoxal phosphate homeostasis protein

Gene

PLPBP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

LigandPyridoxal phosphate

Names & Taxonomyi

Protein namesi
Recommended name:
Pyridoxal phosphate homeostasis proteinUniRule annotation
Short name:
PLP homeostasis proteinUniRule annotation
Alternative name(s):
Proline synthase co-transcribed bacterial homolog proteinUniRule annotation
Pyridoxal phosphate-binding proteinImported
Gene namesi
Name:PLPBPUniRule annotationImported
Synonyms:PROSCUniRule annotationImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000147471.11
HGNCiHGNC:9457 PLPBP
MIMi604436 gene
neXtProtiNX_O94903

Subcellular locationi

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:617290
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07800471 – 275Missing in EPVB6D. 1 PublicationAdd BLAST205
Natural variantiVAR_07800578 – 275Missing in EPVB6D; decreased expression at the mRNA level; undetectable at the protein level in patient's fibroblasts. 1 PublicationAdd BLAST198
Natural variantiVAR_07800687P → L in EPVB6D. 1 PublicationCorresponds to variant dbSNP:rs755946598EnsemblClinVar.1
Natural variantiVAR_078007175L → 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_078008241R → Q in EPVB6D. 1 PublicationCorresponds to variant dbSNP:rs760609867EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi11212
MalaCardsiPLPBP
MIMi617290 phenotype
OpenTargetsiENSG00000147471
Orphaneti3006 Pyridoxine-dependent epilepsy
PharmGKBiPA33810

Chemistry databases

DrugBankiDB00172 L-Proline
DB00114 Pyridoxal Phosphate

Polymorphism and mutation databases

BioMutaiPROSC

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001632101 – 275Pyridoxal phosphate homeostasis proteinAdd BLAST275

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei6PhosphoserineCombined sources1
Modified residuei47N6-(pyridoxal phosphate)lysineUniRule annotation1
Modified residuei69PhosphotyrosineBy similarity1
Modified residuei125N6-succinyllysineBy similarity1
Modified residuei226PhosphoserineCombined sources1
Modified residuei244PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO94903
MaxQBiO94903
PaxDbiO94903
PeptideAtlasiO94903
PRIDEiO94903
ProteomicsDBi50537

2D gel databases

UCD-2DPAGEiO94903

PTM databases

iPTMnetiO94903
PhosphoSitePlusiO94903

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000147471 Expressed in 241 organ(s), highest expression level in upper lobe of lung
CleanExiHS_PROSC
ExpressionAtlasiO94903 baseline and differential
GenevisibleiO94903 HS

Organism-specific databases

HPAiCAB017033
HPA023646
HPA023733

Interactioni

Protein-protein interaction databases

BioGridi116381, 66 interactors
IntActiO94903, 14 interactors
STRINGi9606.ENSP00000333551

Structurei

3D structure databases

ProteinModelPortaliO94903
SMRiO94903
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the pyridoxal phosphate-binding protein YggS/PROSC family.UniRule annotation

Phylogenomic databases

eggNOGiKOG3157 Eukaryota
COG0325 LUCA
GeneTreeiENSGT00390000004928
HOVERGENiHBG053692
InParanoidiO94903
KOiK06997
OMAiLQWHFIG
OrthoDBiEOG091G0IMD
PhylomeDBiO94903
TreeFamiTF314637

Family and domain databases

Gene3Di3.20.20.10, 1 hit
HAMAPiMF_02087 PLP_homeostasis, 1 hit
InterProiView protein in InterPro
IPR001608 Ala_racemase_N
IPR029066 PLP-binding_barrel
IPR011078 PyrdxlP_homeostasis
PANTHERiPTHR10146 PTHR10146, 1 hit
PfamiView protein in Pfam
PF01168 Ala_racemase_N, 1 hit
PIRSFiPIRSF004848 YBL036c_PLPDEIII, 1 hit
SUPFAMiSSF51419 SSF51419, 1 hit
TIGRFAMsiTIGR00044 TIGR00044, 1 hit
PROSITEiView protein in PROSITE
PS01211 UPF0001, 1 hit

Sequence (1+)i

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
« Hide
        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
Length:275
Mass (Da):30,344
Last modified:May 1, 1999 - v1
Checksum:iA81049432B1A8732
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RFX7E5RFX7_HUMAN
Pyridoxal phosphate homeostasis pro...
PLPBP
137Annotation score:
E5RG77E5RG77_HUMAN
Pyridoxal phosphate homeostasis pro...
PLPBP
152Annotation score:
H0YBG2H0YBG2_HUMAN
Pyridoxal phosphate homeostasis pro...
PLPBP
128Annotation score:
E5RFZ4E5RFZ4_HUMAN
Pyridoxal phosphate homeostasis pro...
PLPBP
74Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05247624V → M. Corresponds to variant dbSNP:rs35423325EnsemblClinVar.1
Natural variantiVAR_07800471 – 275Missing in EPVB6D. 1 PublicationAdd BLAST205
Natural variantiVAR_07800578 – 275Missing in EPVB6D; decreased expression at the mRNA level; undetectable at the protein level in patient's fibroblasts. 1 PublicationAdd BLAST198
Natural variantiVAR_07800687P → L in EPVB6D. 1 PublicationCorresponds to variant dbSNP:rs755946598EnsemblClinVar.1
Natural variantiVAR_078007175L → 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_078008241R → 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
CCDSiCCDS6096.1
RefSeqiNP_009129.1, NM_007198.3
UniGeneiHs.304792
Hs.608177

Genome annotation databases

EnsembliENST00000328195; ENSP00000333551; ENSG00000147471
GeneIDi11212
KEGGihsa:11212
UCSCiuc003xkh.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar 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
CCDSiCCDS6096.1
RefSeqiNP_009129.1, NM_007198.3
UniGeneiHs.304792
Hs.608177

3D structure databases

ProteinModelPortaliO94903
SMRiO94903
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116381, 66 interactors
IntActiO94903, 14 interactors
STRINGi9606.ENSP00000333551

Chemistry databases

DrugBankiDB00172 L-Proline
DB00114 Pyridoxal Phosphate

PTM databases

iPTMnetiO94903
PhosphoSitePlusiO94903

Polymorphism and mutation databases

BioMutaiPROSC

2D gel databases

UCD-2DPAGEiO94903

Proteomic databases

EPDiO94903
MaxQBiO94903
PaxDbiO94903
PeptideAtlasiO94903
PRIDEiO94903
ProteomicsDBi50537

Protocols and materials databases

DNASUi11212
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328195; ENSP00000333551; ENSG00000147471
GeneIDi11212
KEGGihsa:11212
UCSCiuc003xkh.4 human

Organism-specific databases

CTDi11212
DisGeNETi11212
EuPathDBiHostDB:ENSG00000147471.11
GeneCardsiPLPBP
HGNCiHGNC:9457 PLPBP
HPAiCAB017033
HPA023646
HPA023733
MalaCardsiPLPBP
MIMi604436 gene
617290 phenotype
neXtProtiNX_O94903
OpenTargetsiENSG00000147471
Orphaneti3006 Pyridoxine-dependent epilepsy
PharmGKBiPA33810
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3157 Eukaryota
COG0325 LUCA
GeneTreeiENSGT00390000004928
HOVERGENiHBG053692
InParanoidiO94903
KOiK06997
OMAiLQWHFIG
OrthoDBiEOG091G0IMD
PhylomeDBiO94903
TreeFamiTF314637

Miscellaneous databases

ChiTaRSiPROSC human
GeneWikiiPROSC
GenomeRNAii11212
PROiPR:O94903
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147471 Expressed in 241 organ(s), highest expression level in upper lobe of lung
CleanExiHS_PROSC
ExpressionAtlasiO94903 baseline and differential
GenevisibleiO94903 HS

Family and domain databases

Gene3Di3.20.20.10, 1 hit
HAMAPiMF_02087 PLP_homeostasis, 1 hit
InterProiView protein in InterPro
IPR001608 Ala_racemase_N
IPR029066 PLP-binding_barrel
IPR011078 PyrdxlP_homeostasis
PANTHERiPTHR10146 PTHR10146, 1 hit
PfamiView protein in Pfam
PF01168 Ala_racemase_N, 1 hit
PIRSFiPIRSF004848 YBL036c_PLPDEIII, 1 hit
SUPFAMiSSF51419 SSF51419, 1 hit
TIGRFAMsiTIGR00044 TIGR00044, 1 hit
PROSITEiView protein in PROSITE
PS01211 UPF0001, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPLPHP_HUMAN
AccessioniPrimary (citable) accession number: O94903
Secondary accession number(s): Q6FI94
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: May 1, 1999
Last modified: November 7, 2018
This is version 162 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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