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    Plpbp pyridoxal phosphate binding protein [ Mus musculus (house mouse) ]

    Gene ID: 114863, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Plpbpprovided by MGI
    Official Full Name
    pyridoxal phosphate binding proteinprovided by MGI
    Primary source
    MGI:MGI:1891207
    See related
    Ensembl:ENSMUSG00000031485 AllianceGenome:MGI:1891207
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Prosc; 1700024N20Rik; 2200002F22Rik
    Summary
    Predicted to enable pyridoxal phosphate binding activity. Located in mitochondrion. Human ortholog(s) of this gene implicated in early-onset vitamin B6-dependent epilepsy 1. Orthologous to human PLPBP (pyridoxal phosphate binding protein). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney adult (RPKM 10.9), cerebellum adult (RPKM 7.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Plpbp in Genome Data Viewer
    Location:
    8 A2; 8 15.91 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (27530801..27546160)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (27041924..27056132)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene TPX2, microtubule-associated protein homolog pseudogene Neighboring gene ER lipid raft associated 2 Neighboring gene STARR-positive B cell enhancer ABC_E4994 Neighboring gene STARR-seq mESC enhancer starr_21013 Neighboring gene predicted gene, 39151 Neighboring gene adhesion G protein-coupled receptor A2 Neighboring gene VISTA enhancer mm136 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:28239113-28239296 Neighboring gene BRF2, RNA polymerase III transcription initiation factor 50kDa subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Cloning and characterization of human and mouse PROSC (proline synthetase co-transcribed) genes. Ikegawa S, et al. J Hum Genet, 1999. PMID 10496079
    2. The interactome of intact mitochondria by cross-linking mass spectrometry provides evidence for coexisting respiratory supercomplexes. Liu F, et al. Mol Cell Proteomics, 2018 Feb. PMID 29222160, Free PMC Article
    3. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    4. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article
    5. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables pyridoxal phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in vitamin B6 metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 

    General protein information

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    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.

    mRNA and Protein(s)

    1. NM_001039077.2 → NP_001034166.1  pyridoxal phosphate homeostasis protein isoform b

      See identical proteins and their annotated locations for NP_001034166.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different splice site in the 3' coding region and lacks several segments in the coding region, compared to variant 4. The resulting protein (isoform b) has a shorter and distinct C-terminus when it is compared to isoform d.
      Source sequence(s)
      BC047992, BC061045, BY065041
      Consensus CDS
      CCDS85519.1
      UniProtKB/TrEMBL
      A0A1B0GRR5, Q6P8V7
      Related
      ENSMUSP00000147943.2, ENSMUST00000209525.2
      Conserved Domains (1) summary
      cl00261
      Location:17 → 153
      PLPDE_III; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzymes

    2. NM_001039078.2 → NP_001034167.1  pyridoxal phosphate homeostasis protein isoform c

      See identical proteins and their annotated locations for NP_001034167.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses a different splice site in the 3' coding region and lacks several segments in the coding region, compared to variant 4. The resulting protein (isoform c) has a shorter and distinct C-terminus when it is compared to isoform d.
      Source sequence(s)
      BC047992, BY065041
      Consensus CDS
      CCDS52533.1
      UniProtKB/TrEMBL
      A0A1B0GRR5, Q80ZV3
      Related
      ENSMUSP00000096450.5, ENSMUST00000098851.12
      Conserved Domains (1) summary
      cl00261
      Location:17 → 141
      PLPDE_III; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzymes

    3. NM_001363479.1 → NP_001350408.1  pyridoxal phosphate homeostasis protein isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (d).
      Source sequence(s)
      AC115820, AK134549
      UniProtKB/TrEMBL
      A0A1B0GRP7
      Related
      ENSMUSP00000147611.2, ENSMUST00000211393.2
      Conserved Domains (1) summary
      cd06822
      Location:17 → 306
      PLPDE_III_YBL036c_euk; Pyridoxal 5-phosphate (PLP)-binding TIM barrel domain of Type III PLP-Dependent Enzymes, Eukaryotic YBL036c-like proteins

    4. NM_054057.4 → NP_473398.1  pyridoxal phosphate homeostasis protein isoform a

      See identical proteins and their annotated locations for NP_473398.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice junction in the 3' end compared to variant 4. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform d.
      Source sequence(s)
      AC115820, AK032308, AW490496, BY065041
      Consensus CDS
      CCDS40310.1
      UniProtKB/Swiss-Prot
      Q9Z2Y8
      UniProtKB/TrEMBL
      A0A1B0GRP7, Q544R1
      Related
      ENSMUSP00000033875.9, ENSMUST00000033875.10
      Conserved Domains (1) summary
      cd06822
      Location:17 → 248
      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_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      27530801..27546160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036153723.1 → XP_036009616.1  pyridoxal phosphate homeostasis protein isoform X4

      Conserved Domains (1) summary
      cd06822
      Location:17 → 233
      PLPDE_III_YBL036c_euk; Pyridoxal 5-phosphate (PLP)-binding TIM barrel domain of Type III PLP-Dependent Enzymes, Eukaryotic YBL036c-like proteins

    2. XM_036153722.1 → XP_036009615.1  pyridoxal phosphate homeostasis protein isoform X3

      Conserved Domains (1) summary
      cd06822
      Location:17 → 236
      PLPDE_III_YBL036c_euk; Pyridoxal 5-phosphate (PLP)-binding TIM barrel domain of Type III PLP-Dependent Enzymes, Eukaryotic YBL036c-like proteins

    3. XM_006508983.2 → XP_006509046.1  pyridoxal phosphate homeostasis protein isoform X5

      Conserved Domains (1) summary
      cl00261
      Location:1 → 143
      PLPDE_III; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzymes

    4. XM_006508982.4 → XP_006509045.1  pyridoxal phosphate homeostasis protein isoform X2

      Conserved Domains (1) summary
      cd06822
      Location:50 → 252
      PLPDE_III_YBL036c_euk; Pyridoxal 5-phosphate (PLP)-binding TIM barrel domain of Type III PLP-Dependent Enzymes, Eukaryotic YBL036c-like proteins

    5. XM_006508981.4 → XP_006509044.1  pyridoxal phosphate homeostasis protein isoform X1

      Conserved Domains (1) summary
      cd06822
      Location:50 → 264
      PLPDE_III_YBL036c_euk; Pyridoxal 5-phosphate (PLP)-binding TIM barrel domain of Type III PLP-Dependent Enzymes, Eukaryotic YBL036c-like proteins

    6. XM_030243243.1 → XP_030099103.1  pyridoxal phosphate homeostasis protein isoform X5

      Conserved Domains (1) summary
      cl00261
      Location:1 → 143
      PLPDE_III; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzymes

    RNA

    1. XR_004934748.1 RNA Sequence

    2. XR_001778393.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z2Y8.1 GenPept UniProtKB/Swiss-Prot:Q9Z2Y8

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