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

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 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, Nov 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

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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?

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.
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.
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.
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.
Genetic analysis of Pycr1 and Pycr2 in mice.
Title: Genetic analysis of Pycr1 and Pycr2 in mice.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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

EC 1.5.1.2

NP_001366014.1

EC 1.5.1.2

NP_001366015.1

EC 1.5.1.2

NP_001366016.1

EC 1.5.1.2

NP_001366017.1

EC 1.5.1.2

NP_001366018.1

EC 1.5.1.2

XP_036012386.1

EC 1.5.1.2

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)

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
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
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
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
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
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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

120527591..120534602 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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.