PLPBP

Protein identityUniProt · HPA

UniProt accession

O94903

Gene

PLPBP

Ensembl

ENSG00000147471

Chromosome

8

Canonical length

275 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

275 residues, UniProt reviewed canonical sequence.

>O94903|PLPBP
     1  MWRAGSMSAE LGVGCALRAV NERVQQAVAR RPRDLPAIQP RLVAVSKTKP ADMVIEAYGH
    61  GQRTFGENYV QELLEKASNP KILSLCPEIK WHFIGHLQKQ NVNKLMAVPN LFMLETVDSV
   121  KLADKVNSSW QRKGSPERLK VMVQINTSGE ESKHGLPPSE TIAIVEHINA KCPNLEFVGL
   181  MTIGSFGHDL SQGPNPDFQL LLSLREELCK KLNIPADQVE LSMGMSADFQ HAVEVGSTNV
   241  RIGSTIFGER DYSKKPTPDK CAADVKAPLE VAQEH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PLPBP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

73 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PLPBP.

Disease | AllUniProt

Conditions PLPBP is implicated in, by any mechanism.

• Epilepsy, early-onset, 1, vitamin B6-dependent (EPEO1) MIM:617290

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 297 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Epilepsy, early-onset, vitamin B6-dependent
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.7

gnomAD pLI

0.04

DepMap mean gene effect

0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• vitamin B6 metabolic process

Molecular functions

• pyridoxal phosphate binding

Cellular components

• cytoplasm
• cytosol
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• PLP-binding barrel
• Alanine racemase, N-terminal
• Pyridoxal phosphate homeostasis protein
• Alanine racemase, N-terminal domain

KeywordsUniProt

• Epilepsy
• Phosphoprotein
• Pyridoxal phosphate