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

Gene ID: 209027, updated on 21-Apr-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 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
human all
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Genomic context

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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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Related articles in PubMed

  1. 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. Li Z, et al. Int J Oncol, 2023 Jul. PMID 37293856, Free PMC Article
  2. Metabolomic and transcriptomic studies of improvements in myocardial infarction due to Pycr1 deletion. Xue Z, et al. J Cell Mol Med, 2023 Jan. PMID 36495058, Free PMC Article
  3. Genetic analysis of Pycr1 and Pycr2 in mice. Stum MG, et al. Genetics, 2021 May 17. PMID 33734376, Free PMC Article
  4. Clusterin and Pycr1 alterations associate with strain and model differences in susceptibility to experimental pancreatitis. Iyer S, et al. Biochem Biophys Res Commun, 2017 Jan 22. PMID 27939882, Free PMC Article
  5. Sublethal endoplasmic reticulum stress caused by the mutation of immunoglobulin heavy chain-binding protein induces the synthesis of a mitochondrial protein, pyrroline-5-carboxylate reductase 1. Jin H, et al. Cell Stress Chaperones, 2017 Jan. PMID 27796797, Free PMC Article

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. Genetic analysis of Pycr1 and Pycr2 in mice.
    Title: Genetic analysis of Pycr1 and Pycr2 in mice.
  5. 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)
  • Gene trapped (1) 
  • Targeted (2) 
  • Endonuclease-mediated (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 ISO
Inferred from Sequence Orthology
more info
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
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
  
Process Evidence Code Pubs
involved_in L-proline biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within amino acid 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 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 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
  

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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