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PLPBP pyridoxal phosphate binding protein [ Homo sapiens (human) ]

Gene ID: 11212, updated on 4-Jan-2025

Summary

Official Symbol
PLPBPprovided by HGNC
Official Full Name
pyridoxal phosphate binding proteinprovided by HGNC
Primary source
HGNC:HGNC:9457
See related
Ensembl:ENSG00000147471 MIM:604436; AllianceGenome:HGNC:9457
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EPEO1; PROSC; EPVB6D
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 12.8), colon (RPKM 10.6) and 25 other tissues See more
Orthologs
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Genomic context

See PLPBP in Genome Data Viewer
Location:
8p11.23
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (37762546..37779768)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (38038942..38056164)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (37620064..37637286)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27228 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:37594714-37595506 Neighboring gene ER lipid raft associated 2 Neighboring gene STING1 ER exit protein 1 pseudogene Neighboring gene uncharacterized LOC124901934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27229 Neighboring gene Sharpr-MPRA regulatory region 13802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27231 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:37638448-37639647 Neighboring gene uncharacterized LOC105379381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:37645266-37645774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:37652831-37653396 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:37653397-37653962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27233 Neighboring gene adhesion G protein-coupled receptor A2 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:37667034-37667256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:37671601-37672366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:37672367-37673132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:37673133-37673898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:37679325-37679898 Neighboring gene VISTA enhancer hs1665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:37685664-37686632 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:37696873-37697010 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:37699228-37699928 Neighboring gene BRF2 general transcription factor IIIB subunit

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Phenotypes

Associated conditions

EBI GWAS Catalog

Description
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
EBI GWAS Catalog

Interactions

General gene information

Clone Names

  • FLJ11861

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables pyridoxal phosphate binding  
Process Evidence Code Pubs
involved_in vitamin B6 metabolic process  
Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytosol  
located_in mitochondrion PubMed 

General protein information

Preferred Names
pyridoxal phosphate homeostasis protein
Names
PLP homeostasis protein
proline synthase co-transcribed bacterial homolog protein
proline synthetase co-transcribed bacterial homolog protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053030.1 RefSeqGene

    Range
    5893..23016
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001349346.2NP_001336275.1  pyridoxal phosphate homeostasis protein isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC138356, AL136616, BC012334, BM984988
    UniProtKB/TrEMBL
    A8K520
    Conserved Domains (1) summary
    cd06822
    Location:17258
    PLPDE_III_YBL036c_euk; Pyridoxal 5-phosphate (PLP)-binding TIM barrel domain of Type III PLP-Dependent Enzymes, Eukaryotic YBL036c-like proteins
  2. NM_001349347.2NP_001336276.1  pyridoxal phosphate homeostasis protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC138356, BM984988
    UniProtKB/TrEMBL
    A8K520
    Conserved Domains (1) summary
    cd06822
    Location:17246
    PLPDE_III_YBL036c_euk; Pyridoxal 5-phosphate (PLP)-binding TIM barrel domain of Type III PLP-Dependent Enzymes, Eukaryotic YBL036c-like proteins
  3. NM_001349348.2NP_001336277.1  pyridoxal phosphate homeostasis protein isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses a downstream start codon compared to variant 1. The encoded isoform (4) has a shorter N-terminus compared to variant 1.
    Source sequence(s)
    AC138356, BM984988
    UniProtKB/TrEMBL
    B3KMP6
    Conserved Domains (1) summary
    cd06822
    Location:1196
    PLPDE_III_YBL036c_euk; Pyridoxal 5-phosphate (PLP)-binding TIM barrel domain of Type III PLP-Dependent Enzymes, Eukaryotic YBL036c-like proteins
  4. NM_001349349.1NP_001336278.1  pyridoxal phosphate homeostasis protein isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks a portion of the 3' coding region and differs in the 3' UTR compared to variant 1. The encoded protein has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AA463397, AC138356
    Conserved Domains (1) summary
    cl00261
    Location:52142
    PLPDE_III; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzymes
  5. NM_007198.4NP_009129.1  pyridoxal phosphate homeostasis protein isoform 2

    See identical proteins and their annotated locations for NP_009129.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL136616, BC012334, BM984988
    Consensus CDS
    CCDS6096.1
    UniProtKB/Swiss-Prot
    O94903, Q6FI94
    UniProtKB/TrEMBL
    A8K520
    Related
    ENSP00000333551.3, ENST00000328195.8
    Conserved Domains (1) summary
    cd06822
    Location:17248
    PLPDE_III_YBL036c_euk; Pyridoxal 5-phosphate (PLP)-binding TIM barrel domain of Type III PLP-Dependent Enzymes, Eukaryotic YBL036c-like proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    37762546..37779768
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    38038942..38056164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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