• Gene id: 5831

Gene Summary

• Gene Symbol: PYCR1   Gene   UCSC   Ensembl
• Aliases: ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR
• Gene name: pyrroline-5-carboxylate reductase 1
• Alternate names: pyrroline-5-carboxylate reductase 1, mitochondrial, P5C reductase 1, proliferation-inducing protein 45,
• Gene location: 17q25.3 (81937327: 81932383)     Exons: 10     NC_000017.11
• Gene summary(Entrez): This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes
• OMIM: 602917

Protein Summary

• Protein general information: P32322  
  • Name: Pyrroline 5 carboxylate reductase 1, mitochondrial (P5C reductase 1) (P5CR 1) (EC 1.5.1.2)
  • Length: 319  
  • Mass: 33361
• Sequence:

  MSVGFIGAGQLAFALAKGFTAAGVLAAHKIMASSPDMDLATVSALRKMGVKLTPHNKETVQHSDVLFLAVKPHII
  PFILDEIGADIEDRHIVVSCAAGVTISSIEKKLSAFRPAPRVIRCMTNTPVVVREGATVYATGTHAQVEDGRLME
  QLLSSVGFCTEVEEDLIDAVTGLSGSGPAYAFTALDALADGGVKMGLPRRLAVRLGAQALLGAAKMLLHSEQHPG
  QLKDNVSSPGGATIHALHVLESGGFRSLLINAVEASCIRTRELQSMADQEQVSPAAIKKTILDKVKLDSPAGTAL
  SPSGHTKLLPRSLAPAGKD

• Structural information:
  • Interpro: IPR008927  IPR036291  IPR028939  IPR029036  IPR000304  
  • Prosite: PS00521
  • PDB: 2GER 2GR9 2GRA 2IZZ 5UAT 5UAU 5UAV 5UAW 5UAX
  • PDBsum: 2GER 2GR9 2GRA 2IZZ 5UAT 5UAU 5UAV 5UAW 5UAX
  • STRING: ENSP00000384949
• Other Databases: GeneCards:  PYCR1  Malacards:  PYCR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004735	pyrroline-5-carboxylate reductase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1903206	negative regulation of hydrogen peroxide-induced cell death	IMP	biological process
GO:0051881	regulation of mitochondrial membrane potential	IMP	biological process
GO:0004735	pyrroline-5-carboxylate reductase activity	IBA	molecular function
GO:0055129	L-proline biosynthetic process	IBA	biological process
GO:0006561	proline biosynthetic process	IDA	biological process
GO:0004735	pyrroline-5-carboxylate reductase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004735	pyrroline-5-carboxylate reductase activity	IEA	molecular function
GO:0006561	proline biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008652	cellular amino acid biosynthetic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006561	proline biosynthetic process	IEA	biological process
GO:0004735	pyrroline-5-carboxylate reductase activity	TAS	molecular function
GO:0006561	proline biosynthetic process	TAS	biological process
GO:0004735	pyrroline-5-carboxylate reductase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0055129	L-proline biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0034599	cellular response to oxidative stress	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01230	Biosynthesis of amino acids
hsa00330	Arginine and proline metabolism

Diseases

Associated diseases	References
Cutis laxa	KEGG:H00557
Geroderma osteodysplasticum	KEGG:H00558
Cutis laxa	KEGG:H00557
Geroderma osteodysplasticum	KEGG:H00558
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray