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

    Gene ID: 11212, updated on 11-Jun-2021

    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
    NEW
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    Genomic context

    See PLPBP in Genome Data Viewer
    Location:
    8p11.23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (37762546..37779768)
    105.20201022 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 ER lipid raft associated 2 Neighboring gene STING1 ER exit protein 1 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
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    GeneReviews: Not available

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

    NEW Try the new Transcript table

    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 109.20210514

    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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