UniProtKB - O94903 (PLPHP_HUMAN)

BLAST

>sp|O94903|PLPHP_HUMAN Pyridoxal phosphate homeostasis protein OS=Homo sapiens OX=9606 GN=PLPBP PE=1 SV=1
MWRAGSMSAELGVGCALRAVNERVQQAVARRPRDLPAIQPRLVAVSKTKPADMVIEAYGH
GQRTFGENYVQELLEKASNPKILSLCPEIKWHFIGHLQKQNVNKLMAVPNLFMLETVDSV
KLADKVNSSWQRKGSPERLKVMVQINTSGEESKHGLPPSETIAIVEHINAKCPNLEFVGL
MTIGSFGHDLSQGPNPDFQLLLSLREELCKKLNIPADQVELSMGMSADFQHAVEVGSTNV
RIGSTIFGERDYSKKPTPDKCAADVKAPLEVAQEH

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History
Entry version 162 (07 Nov 2018)
Sequence version 1 (01 May 1999)
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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
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Ligand	Pyridoxal phosphate

Ligand

Pyridoxal 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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 8

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000147471.11
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:9457 PLPBP
MIMⁱ	604436 gene
neXtProtⁱ	NX_O94903

Subcellular locationⁱ

GO - Cellular component

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.

Feature key	Position(s)	DescriptionActions	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, Epilepsy

Organism-specific databases

DisGeNET More...DisGeNETⁱ	11212
MalaCards human disease database More...MalaCardsⁱ	PLPBP
MIMⁱ	617290 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000147471
Orphanetⁱ	3006 Pyridoxine-dependent epilepsy
PharmGKBⁱ	PA33810

Chemistry databases

Drug and drug target database More...DrugBankⁱ	DB00172 L-Proline DB00114 Pyridoxal Phosphate

DrugBankⁱ

DB00172 L-Proline
DB00114 Pyridoxal Phosphate

Polymorphism and mutation databases

BioMutaⁱ	PROSC

BioMutaⁱ

PROSC

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	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

Phosphoprotein

Proteomic databases

EPDⁱ	O94903
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O94903
PaxDbⁱ	O94903
PeptideAtlas More...PeptideAtlasⁱ	O94903
PRIDEⁱ	O94903
ProteomicsDBⁱ	50537

2D gel databases

UCD-2DPAGEⁱ	O94903

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
CleanExⁱ	HS_PROSC
ExpressionAtlasⁱ	O94903 baseline and differential
Genevisibleⁱ	O94903 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB017033 HPA023646 HPA023733

HPAⁱ

CAB017033
HPA023646
HPA023733

Interactionⁱ

Protein-protein interaction databases

BioGridⁱ	116381, 66 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
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000004928
HOVERGENⁱ	HBG053692
InParanoidⁱ	O94903
KEGG Orthology (KO) More...KOⁱ	K06997
OMAⁱ	LQWHFIG
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0IMD
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
Pfam protein domain database More...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

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show all Align All

O94903-1 [UniParc]FASTA Add to basket

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        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

Computationally mapped potential isoform sequencesⁱ

There are 4 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

E5RFX7	E5RFX7_HUMAN	Pyridoxal phosphate homeostasis pro... Pyridoxal phosphate homeostasis protein	PLPBP	137	Annotation score:
E5RG77	E5RG77_HUMAN	Pyridoxal phosphate homeostasis pro... Pyridoxal phosphate homeostasis protein	PLPBP	152	Annotation score:
H0YBG2	H0YBG2_HUMAN	Pyridoxal phosphate homeostasis pro... Pyridoxal phosphate homeostasis protein	PLPBP	128	Annotation score:
E5RFZ4	E5RFZ4_HUMAN	Pyridoxal phosphate homeostasis pro... Pyridoxal phosphate homeostasis protein	PLPBP	74	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS6096.1
NCBI Reference Sequences More...RefSeqⁱ	NP_009129.1, NM_007198.3
UniGeneⁱ	Hs.304792 Hs.608177

Genome annotation databases

Ensemblⁱ	ENST00000328195; ENSP00000333551; ENSG00000147471
GeneIDⁱ	11212
KEGGⁱ	hsa:11212
UCSC genome browser More...UCSCⁱ	uc003xkh.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Protein	Similar proteins		Species	Score	Length	Source
O94903	Pyridoxal phosphate homeostasis protein		HUMAN		310	UniRef100_O94903
Pyridoxal phosphate homeostasis protein (Fragment)		HUMAN		137
Pyridoxal phosphate homeostasis protein (Fragment)		HUMAN		152
UPI0009A0C9A7		HUMAN		223

Protein	Similar proteins		Species	Score	Length	Source
O94903	Pyridoxal phosphate homeostasis protein		PONAB		275	UniRef90_O94903
Pyridoxal phosphate homeostasis protein		BOVIN		273
Pyridoxal phosphate homeostasis protein		HUMAN		310
Pyridoxal phosphate homeostasis protein		CERAT		310
Pyridoxal phosphate homeostasis protein		CHLSB		310
+101

Protein	Similar proteins		Species	Score	Length	Source
O94903	Pyridoxal phosphate homeostasis protein		PONAB		275	UniRef50_O94903
Pyridoxal phosphate homeostasis protein		BOVIN		273
Pyridoxal phosphate homeostasis protein		MOUSE		274
Pyridoxal phosphate homeostasis protein		HUMAN		310
Pyridoxal phosphate homeostasis protein		CHLSB		310
+184

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, 66 interactors
IntActⁱ	O94903, 14 interactors
STRINGⁱ	9606.ENSP00000333551

Chemistry databases

DrugBankⁱ	DB00172 L-Proline DB00114 Pyridoxal Phosphate

DrugBankⁱ

DB00172 L-Proline
DB00114 Pyridoxal Phosphate

PTM databases

iPTMnetⁱ	O94903
PhosphoSitePlusⁱ	O94903

Polymorphism and mutation databases

BioMutaⁱ	PROSC

BioMutaⁱ

PROSC

2D gel databases

UCD-2DPAGEⁱ	O94903

UCD-2DPAGEⁱ

O94903

Proteomic databases

EPDⁱ	O94903
MaxQBⁱ	O94903
PaxDbⁱ	O94903
PeptideAtlasⁱ	O94903
PRIDEⁱ	O94903
ProteomicsDBⁱ	50537

Protocols and materials databases

The DNASU plasmid repository More...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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3157 Eukaryota COG0325 LUCA
GeneTreeⁱ	ENSGT00390000004928
HOVERGENⁱ	HBG053692
InParanoidⁱ	O94903
KOⁱ	K06997
OMAⁱ	LQWHFIG
OrthoDBⁱ	EOG091G0IMD
PhylomeDBⁱ	O94903
TreeFamⁱ	TF314637

Miscellaneous databases

ChiTaRSⁱ	PROSC human
GeneWikiⁱ	PROSC
GenomeRNAiⁱ	11212
Protein Ontology More...PROⁱ	PR:O94903
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000147471 Expressed in 241 organ(s), highest expression level in upper lobe of lung
CleanExⁱ	HS_PROSC
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:	November 7, 2018
	This is version 162 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 proteome

Documents

SIMILARITY comments
Index of protein domains and families
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
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM

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UniProtKB - O94903 (PLPHP_HUMAN)

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Pyridoxal phosphate homeostasis protein

PLPBP

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Other locations

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

2D gel databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

2D gel databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ