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

Gene ID: 209027, updated on 5-Mar-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
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Genomic context

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)
  • Gene trapped (1) 
  • Targeted (2) 
  • Endonuclease-mediated (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)

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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_001348222.2NP_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.