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

    Gene ID: 209027, updated on 12-May-2024

    Summary

    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 hydrogen peroxide-induced cell death; and regulation of mitochondrial membrane potential. Predicted to act upstream of or within cellular amino acid biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; ear; genitourinary system; skeleton; and telencephalon. 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, Apr 2022]
    Expression
    Broad expression in limb E14.5 (RPKM 10.3), stomach adult (RPKM 5.4) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3)  1 citation
    • Gene trapped (1) 
    • Targeted (2) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    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)

    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.

    mRNA and Protein(s)

    1. NM_001348222.2NP_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:1268
      PLN02688; pyrroline-5-carboxylate reductase
    2. NM_001379085.1NP_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:1268
      PLN02688; pyrroline-5-carboxylate reductase
    3. NM_001379086.1NP_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:31298
      PLN02688; pyrroline-5-carboxylate reductase
    4. NM_001379087.1NP_001366016.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AL663030
      Conserved Domains (1) summary
      PLN02688
      Location:18255
      PLN02688; pyrroline-5-carboxylate reductase
    5. NM_001379088.1NP_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:1238
      PLN02688; pyrroline-5-carboxylate reductase
    6. NM_001379089.1NP_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:1238
      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_036156493.1XP_036012386.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

      Conserved Domains (1) summary
      PLN02688
      Location:31298
      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.