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

Gene ID: 11212, updated on 1-Jun-2020

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
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
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

Genomic context

See PLPBP in Genome Data Viewer
Location:
8p11.23
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (37762546..37779768)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (37619680..37637286)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723701 Neighboring gene ER lipid raft associated 2 Neighboring gene chromosome X open reading frame 56 pseudogene Neighboring gene Sharpr-MPRA regulatory region 13802 Neighboring gene uncharacterized LOC105379381 Neighboring gene adhesion G protein-coupled receptor A2 Neighboring gene VISTA enhancer hs1665

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
Epilepsy, early-onset, vitamin b6-dependent
MedGen: C4310632 OMIM: 617290 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11861

Gene Ontology Provided by GOA

Function Evidence Code Pubs
pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
intracellular IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular IDA
Inferred from Direct Assay
more info
 

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)

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
    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
    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
    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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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