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

Gene ID: 114863, updated on 2-Nov-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, Nov 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 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
  
Component Evidence Code Pubs
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
is_active_in intracellular anatomical structure IBA
Inferred from Biological aspect of Ancestor
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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