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    Pycr1 pyrroline-5-carboxylate reductase 1 [ Mus musculus (house mouse) ]

    Gene ID: 209027, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Pycr1provided by MGI
    Official Full Name
    pyrroline-5-carboxylate reductase 1provided by MGI
    Primary source
    MGI:MGI:2384795
    See related
    Ensembl:ENSMUSG00000025140 AllianceGenome:MGI:2384795
    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
    P5CR1; P5CR 1
    Summary
    Predicted to enable identical protein binding activity and pyrroline-5-carboxylate reductase activity. Predicted to be involved in several processes, including L-proline biosynthetic process; negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway; and regulation of mitochondrial membrane potential. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; ear; genitourinary system; and skeleton. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IIB and autosomal recessive cutis laxa type IIIB. Orthologous to human PYCR1 (pyrroline-5-carboxylate reductase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in limb E14.5 (RPKM 10.3), stomach adult (RPKM 5.4) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pycr1 in Genome Data Viewer
    Location:
    11 E2; 11 84.37 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (120527591..120534602, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (120638998..120643748, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene sirtuin 7 Neighboring gene microRNA 6936 Neighboring gene STARR-positive B cell enhancer ABC_E7115 Neighboring gene v-maf musculoaponeurotic fibrosarcoma oncogene family, protein G (avian) Neighboring gene predicted gene, 17586 Neighboring gene STARR-positive B cell enhancer mm9_chr11:120504984-120505285 Neighboring gene myeloid-associated differentiation marker-like 2 Neighboring gene notum palmitoleoyl-protein carboxylesterase

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A micropeptide TREMP encoded by lincR-PPP2R5C promotes Th2 cell differentiation by interacting with PYCR1 in allergic airway inflammation.
      Title: A micropeptide TREMP encoded by lincR-PPP2R5C promotes Th2 cell differentiation by interacting with PYCR1 in allergic airway inflammation.
    2. LINC01123 acts as an oncogenic driver in lung adenocarcinoma by regulating the miR-4766-5p/PYCR1 axis.
      Title: LINC01123 acts as an oncogenic driver in lung adenocarcinoma by regulating the miR-4766-5p/PYCR1 axis.
    3. Exosomes from PYCR1 knockdown bone marrow mesenchymal stem inhibits aerobic glycolysis and the growth of bladder cancer cells via regulation of the EGFR/PI3K/AKT pathway.
      Title: Exosomes from PYCR1 knockdown bone marrow mesenchymal stem inhibits aerobic glycolysis and the growth of bladder cancer cells via regulation of the EGFR/PI3K/AKT pathway.
    4. Metabolomic and transcriptomic studies of improvements in myocardial infarction due to Pycr1 deletion.
      Title: Metabolomic and transcriptomic studies of improvements in myocardial infarction due to Pycr1 deletion.
    5. Genetic analysis of Pycr1 and Pycr2 in mice.
      Title: Genetic analysis of Pycr1 and Pycr2 in mice.
    6. susceptibility to experimental pancreatitis is determined by strain and model differences with Clusterin and Pycr1 alterations
      Title: Clusterin and Pycr1 alterations associate with strain and model differences in susceptibility to experimental pancreatitis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4)  1 citation
    • Gene trapped (1) 
    • Targeted (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC11688

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables pyrroline-5-carboxylate reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables pyrroline-5-carboxylate reductase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables pyrroline-5-carboxylate reductase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-proline biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-proline biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to oxidative stress ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proline biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proline biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of mitochondrial membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of mitochondrial membrane potential ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    pyrroline-5-carboxylate reductase 1, mitochondrial
    Names
    P5C reductase 1
    NP_001335151.1
    NP_001366014.1
    NP_001366015.1
    NP_001366016.1
    NP_001366017.1
    NP_001366018.1
    XP_036012386.1

    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_001348222.2 → NP_001335151.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variant 3, encodes isoform b.
      Source sequence(s)
      AL663030
      Consensus CDS
      CCDS25749.1
      UniProtKB/Swiss-Prot
      Q922W5
      UniProtKB/TrEMBL
      Q3UTR5
      Related
      ENSMUSP00000026133.9, ENSMUST00000026133.15
      Conserved Domains (1) summary
      PLN02688
      Location:1 → 268
      PLN02688; pyrroline-5-carboxylate reductase

    2. NM_001379085.1 → NP_001366014.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variant 2, encodes isoform b.
      Source sequence(s)
      AL663030
      UniProtKB/Swiss-Prot
      Q922W5
      UniProtKB/TrEMBL
      Q3UTR5
      Related
      ENSMUSP00000131199.2, ENSMUST00000170556.8
      Conserved Domains (1) summary
      PLN02688
      Location:1 → 268
      PLN02688; pyrroline-5-carboxylate reductase

    3. NM_001379086.1 → NP_001366015.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform a precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (a).
      Source sequence(s)
      AL663030
      Conserved Domains (1) summary
      PLN02688
      Location:31 → 298
      PLN02688; pyrroline-5-carboxylate reductase

    4. NM_001379087.1 → NP_001366016.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AL663030
      Conserved Domains (1) summary
      PLN02688
      Location:18 → 255
      PLN02688; pyrroline-5-carboxylate reductase

    5. NM_001379088.1 → NP_001366017.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variant 7, encodes isoform d.
      Source sequence(s)
      AL663030
      Conserved Domains (1) summary
      PLN02688
      Location:1 → 238
      PLN02688; pyrroline-5-carboxylate reductase

    6. NM_001379089.1 → NP_001366018.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variant 6, encodes isoform d.
      Source sequence(s)
      AL663030
      Conserved Domains (1) summary
      PLN02688
      Location:1 → 238
      PLN02688; pyrroline-5-carboxylate reductase

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      120527591..120534602 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036156493.1 → XP_036012386.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

      Conserved Domains (1) summary
      PLN02688
      Location:31 → 298
      PLN02688; pyrroline-5-carboxylate reductase

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_144795.3: Suppressed sequence

      Description
      NM_144795.3: This RefSeq was removed because currently there is insufficient support for the 5' and 3' UTRs of the transcript.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q922W5.1 GenPept UniProtKB/Swiss-Prot:Q922W5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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