Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5831
Gene name	Pyrroline-5-carboxylate reductase 1
Gene symbol	PYCR1
Synonyms (NCBI Gene)	ARCL2BARCL3BP5CP5CRPIG45PP222PRO3PYCR
Chromosome	17
Chromosome location	17q25.3
Summary	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

Show/Hide all (23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34575645	T>C	Likely-pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs121918374	C>G,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121918375	C>A,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs121918376	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs121918377	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs121918378	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs139751598	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs144346996	C>G	Likely-pathogenic, pathogenic	Splice donor variant, intron variant
rs147653673	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149683289	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs281875318	C>T	Not-provided, pathogenic	Intron variant, coding sequence variant, missense variant
rs281875319	C>T	Not-provided, pathogenic	Intron variant, coding sequence variant, missense variant
rs752297179	C>A,T	Pathogenic	Splice donor variant
rs755867227	C>T	Pathogenic	Splice donor variant
rs758601634	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs762218403	->G	Pathogenic	Coding sequence variant, frameshift variant
rs770505872	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1057524460	C>T	Likely-pathogenic	Splice acceptor variant
rs1085307679	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1180294322	T>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1598354372	ACTGACCAGGAGGGCCTGGGCCC>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1598358440	C>A	Pathogenic	Missense variant, coding sequence variant
rs1598358449	C>-	Pathogenic	Frameshift variant, coding sequence variant

157

Show/Hide all (157)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025563	hsa-miR-34a-5p	Proteomics	21566225
MIRT051571	hsa-let-7e-5p	CLASH	23622248
MIRT036631	hsa-miR-940	CLASH	23622248
MIRT732775	hsa-miR-2355-5p	PAR-CLIP	26701625
MIRT732775	hsa-miR-2355-5p	Immunohistochemistry (IHC)RNA-seqqRT-PCRWestern blotting	34239351
MIRT1279285	hsa-miR-124	CLIP-seq
MIRT1279286	hsa-miR-125a-5p	CLIP-seq
MIRT1279287	hsa-miR-125b	CLIP-seq
MIRT1279288	hsa-miR-299-3p	CLIP-seq
MIRT1279289	hsa-miR-3714	CLIP-seq
MIRT1279290	hsa-miR-3910	CLIP-seq
MIRT1279291	hsa-miR-4265	CLIP-seq
MIRT1279292	hsa-miR-4287	CLIP-seq
MIRT1279293	hsa-miR-4290	CLIP-seq
MIRT1279294	hsa-miR-4296	CLIP-seq
MIRT1279295	hsa-miR-4312	CLIP-seq
MIRT1279296	hsa-miR-4319	CLIP-seq
MIRT1279297	hsa-miR-4322	CLIP-seq
MIRT1279298	hsa-miR-4417	CLIP-seq
MIRT1279299	hsa-miR-4428	CLIP-seq
MIRT1279300	hsa-miR-4469	CLIP-seq
MIRT1279301	hsa-miR-4493	CLIP-seq
MIRT1279302	hsa-miR-4533	CLIP-seq
MIRT1279303	hsa-miR-4681	CLIP-seq
MIRT1279304	hsa-miR-4685-3p	CLIP-seq
MIRT1279305	hsa-miR-4713-5p	CLIP-seq
MIRT1279306	hsa-miR-4732-3p	CLIP-seq
MIRT1279307	hsa-miR-4747-5p	CLIP-seq
MIRT1279308	hsa-miR-506	CLIP-seq
MIRT1279309	hsa-miR-576-3p	CLIP-seq
MIRT1279310	hsa-miR-602	CLIP-seq
MIRT1279311	hsa-miR-670	CLIP-seq
MIRT2082311	hsa-miR-4292	CLIP-seq
MIRT2082312	hsa-miR-4308	CLIP-seq
MIRT2082313	hsa-miR-4749-3p	CLIP-seq
MIRT2082314	hsa-miR-4794	CLIP-seq
MIRT1279310	hsa-miR-602	CLIP-seq
MIRT2307898	hsa-miR-1207-5p	CLIP-seq
MIRT2307899	hsa-miR-1226	CLIP-seq
MIRT2307900	hsa-miR-1233	CLIP-seq
MIRT2307901	hsa-miR-129-3p	CLIP-seq
MIRT2307902	hsa-miR-1321	CLIP-seq
MIRT2307903	hsa-miR-1470	CLIP-seq
MIRT2307904	hsa-miR-1539	CLIP-seq
MIRT2307905	hsa-miR-188-3p	CLIP-seq
MIRT2307906	hsa-miR-1915	CLIP-seq
MIRT2307907	hsa-miR-197	CLIP-seq
MIRT1279288	hsa-miR-299-3p	CLIP-seq
MIRT2307908	hsa-miR-29a	CLIP-seq
MIRT2307909	hsa-miR-29b	CLIP-seq
MIRT2307910	hsa-miR-29c	CLIP-seq
MIRT2307911	hsa-miR-3064-5p	CLIP-seq
MIRT2307912	hsa-miR-3607-5p	CLIP-seq
MIRT2307913	hsa-miR-3652	CLIP-seq
MIRT2307914	hsa-miR-3688-5p	CLIP-seq
MIRT2307915	hsa-miR-3689d	CLIP-seq
MIRT2307916	hsa-miR-383	CLIP-seq
MIRT2307917	hsa-miR-3918	CLIP-seq
MIRT1279291	hsa-miR-4265	CLIP-seq
MIRT2307918	hsa-miR-4270	CLIP-seq
MIRT1279293	hsa-miR-4290	CLIP-seq
MIRT2082311	hsa-miR-4292	CLIP-seq
MIRT1279294	hsa-miR-4296	CLIP-seq
MIRT2082312	hsa-miR-4308	CLIP-seq
MIRT1279295	hsa-miR-4312	CLIP-seq
MIRT1279297	hsa-miR-4322	CLIP-seq
MIRT1279298	hsa-miR-4417	CLIP-seq
MIRT2307919	hsa-miR-4430	CLIP-seq
MIRT2307920	hsa-miR-4433	CLIP-seq
MIRT2307921	hsa-miR-4436a	CLIP-seq
MIRT2307922	hsa-miR-4441	CLIP-seq
MIRT2307923	hsa-miR-4459	CLIP-seq
MIRT1279300	hsa-miR-4469	CLIP-seq
MIRT1279301	hsa-miR-4493	CLIP-seq
MIRT2307924	hsa-miR-4505	CLIP-seq
MIRT2307925	hsa-miR-450b-3p	CLIP-seq
MIRT2307926	hsa-miR-4512	CLIP-seq
MIRT2307927	hsa-miR-4514	CLIP-seq
MIRT2307928	hsa-miR-4520a-5p	CLIP-seq
MIRT2307929	hsa-miR-4520b-5p	CLIP-seq
MIRT2307930	hsa-miR-4530	CLIP-seq
MIRT2307931	hsa-miR-4640-5p	CLIP-seq
MIRT2307932	hsa-miR-4667-3p	CLIP-seq
MIRT2307933	hsa-miR-4692	CLIP-seq
MIRT2307934	hsa-miR-4701-5p	CLIP-seq
MIRT2307935	hsa-miR-4713-3p	CLIP-seq
MIRT2307936	hsa-miR-4722-5p	CLIP-seq
MIRT2307937	hsa-miR-4726-3p	CLIP-seq
MIRT2307938	hsa-miR-4726-5p	CLIP-seq
MIRT2307939	hsa-miR-4733-3p	CLIP-seq
MIRT2307940	hsa-miR-4739	CLIP-seq
MIRT2082313	hsa-miR-4749-3p	CLIP-seq
MIRT2307941	hsa-miR-4756-3p	CLIP-seq
MIRT2307942	hsa-miR-4756-5p	CLIP-seq
MIRT2307943	hsa-miR-4763-3p	CLIP-seq
MIRT2307944	hsa-miR-4766-5p	CLIP-seq
MIRT2307945	hsa-miR-4768-3p	CLIP-seq
MIRT2307946	hsa-miR-4772-5p	CLIP-seq
MIRT2082314	hsa-miR-4794	CLIP-seq
MIRT2307947	hsa-miR-488	CLIP-seq
MIRT2307948	hsa-miR-532-3p	CLIP-seq
MIRT1279309	hsa-miR-576-3p	CLIP-seq
MIRT2307949	hsa-miR-588	CLIP-seq
MIRT2307950	hsa-miR-634	CLIP-seq
MIRT2307951	hsa-miR-638	CLIP-seq
MIRT2307952	hsa-miR-663b	CLIP-seq
MIRT2307953	hsa-miR-769-3p	CLIP-seq
MIRT1279301	hsa-miR-4493	CLIP-seq
MIRT1279301	hsa-miR-4493	CLIP-seq
MIRT2307898	hsa-miR-1207-5p	CLIP-seq
MIRT1279286	hsa-miR-125a-5p	CLIP-seq
MIRT1279287	hsa-miR-125b	CLIP-seq
MIRT2307902	hsa-miR-1321	CLIP-seq
MIRT2605195	hsa-miR-3140-5p	CLIP-seq
MIRT2605196	hsa-miR-3184	CLIP-seq
MIRT2605197	hsa-miR-3616-3p	CLIP-seq
MIRT2605198	hsa-miR-423-5p	CLIP-seq
MIRT2307918	hsa-miR-4270	CLIP-seq
MIRT1279292	hsa-miR-4287	CLIP-seq
MIRT1279296	hsa-miR-4319	CLIP-seq
MIRT1279299	hsa-miR-4428	CLIP-seq
MIRT2605199	hsa-miR-4436b-3p	CLIP-seq
MIRT2307922	hsa-miR-4441	CLIP-seq
MIRT1279300	hsa-miR-4469	CLIP-seq
MIRT1279302	hsa-miR-4533	CLIP-seq
MIRT1279303	hsa-miR-4681	CLIP-seq
MIRT1279304	hsa-miR-4685-3p	CLIP-seq
MIRT1279305	hsa-miR-4713-5p	CLIP-seq
MIRT2605200	hsa-miR-4728-5p	CLIP-seq
MIRT1279306	hsa-miR-4732-3p	CLIP-seq
MIRT2307940	hsa-miR-4739	CLIP-seq
MIRT1279307	hsa-miR-4747-5p	CLIP-seq
MIRT2307942	hsa-miR-4756-5p	CLIP-seq
MIRT2307943	hsa-miR-4763-3p	CLIP-seq
MIRT2605201	hsa-miR-4790-3p	CLIP-seq
MIRT2605202	hsa-miR-4802-5p	CLIP-seq
MIRT1279310	hsa-miR-602	CLIP-seq
MIRT1279311	hsa-miR-670	CLIP-seq
MIRT1279286	hsa-miR-125a-5p	CLIP-seq
MIRT1279287	hsa-miR-125b	CLIP-seq
MIRT2605195	hsa-miR-3140-5p	CLIP-seq
MIRT2605197	hsa-miR-3616-3p	CLIP-seq
MIRT1279292	hsa-miR-4287	CLIP-seq
MIRT1279296	hsa-miR-4319	CLIP-seq
MIRT1279299	hsa-miR-4428	CLIP-seq
MIRT2605199	hsa-miR-4436b-3p	CLIP-seq
MIRT1279300	hsa-miR-4469	CLIP-seq
MIRT1279302	hsa-miR-4533	CLIP-seq
MIRT1279303	hsa-miR-4681	CLIP-seq
MIRT1279304	hsa-miR-4685-3p	CLIP-seq
MIRT1279305	hsa-miR-4713-5p	CLIP-seq
MIRT1279306	hsa-miR-4732-3p	CLIP-seq
MIRT1279307	hsa-miR-4747-5p	CLIP-seq
MIRT2605201	hsa-miR-4790-3p	CLIP-seq
MIRT2605202	hsa-miR-4802-5p	CLIP-seq
MIRT1279310	hsa-miR-602	CLIP-seq
MIRT1279311	hsa-miR-670	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004735	Function	Pyrroline-5-carboxylate reductase activity	IBA
GO:0004735	Function	Pyrroline-5-carboxylate reductase activity	IDA	16730026, 23024808, 23743200, 28258219
GO:0004735	Function	Pyrroline-5-carboxylate reductase activity	IEA
GO:0004735	Function	Pyrroline-5-carboxylate reductase activity	TAS	1730675
GO:0005515	Function	Protein binding	IPI	23743200, 24930674, 32296183
GO:0005739	Component	Mitochondrion	IDA	19648921, 23024808, 23743200
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034599	Process	Cellular response to oxidative stress	IMP	19648921
GO:0042802	Function	Identical protein binding	IPI	2722838, 16730026
GO:0051881	Process	Regulation of mitochondrial membrane potential	IMP	23743200
GO:0055129	Process	L-proline biosynthetic process	IBA
GO:0055129	Process	L-proline biosynthetic process	IDA	16730026, 23024808, 28258219
GO:0055129	Process	L-proline biosynthetic process	IEA
GO:0055129	Process	L-proline biosynthetic process	TAS	1730675
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IMP	23743200

MIM	HGNC	e!Ensembl
179035	9721	ENSG00000183010

P32322

Protein name

Pyrroline-5-carboxylate reductase 1, mitochondrial (P5C reductase 1) (P5CR 1) (EC 1.5.1.2)

Protein function

Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:16730026, PubMed:19648921, PubMed:23024808, PubMed:28258219). At physiologic co

PDB

2GER , 2GR9 , 2GRA , 2IZZ , 5UAT , 5UAU , 5UAV , 5UAW , 5UAX , 6XOZ , 6XP0 , 6XP1 , 6XP2 , 6XP3 , 8DKG , 8TCU , 8TCV , 8TCW , 8TCX , 8TCY , 8TCZ , 8TD0 , 8TD1 , 8TD2 , 8TD3 , 8TD4 , 8TD5 , 8TD6 , 8TD7 , 8TD8 , 8TD9 , 8TDB , 8TDC , 8TDD , 8VRE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03807	F420_oxidored	2 → 98	NADP oxidoreductase coenzyme F420-dependent	Family
PF14748	P5CR_dimer	164 → 268	Pyrroline-5-carboxylate reductase dimerisation	Domain

Sequence

MSVGFIGAGQLAFALAKGFTAAGVLAAHKIMASSPDMDLATVSALRKMGVKLTPHNKETV
QHSDVLFLAVKPHIIPFILDEIGADIEDRHIVVSCAAGVTISSIEKKLSAFRPAPRVIRC
MTNTPVVVREGATVYATGTHAQVEDGRLMEQLLSSVGFCTEVEEDLIDAVTGLSGSGPAY
AFTALDALADGGVKMGLPRRLAVRLGAQALLGAAKMLLHSEQHPGQLKDNVSSPGGATIH
ALHVLESGGFRSLLINAVEASCIRTRELQSMADQEQVSPAAIKKTILDKVKLDSPAGTAL
SPSGHTKLLPRSLAPAGKD

Sequence length

319

Interactions

View interactions

	KEGG		Reactome
	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids		Glutamate and glutamine metabolism

196

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of connective tissue	Likely pathogenic; Pathogenic	rs121918375	RCV001814045
Autosomal recessive cutis laxa type 2B	Likely pathogenic; Pathogenic	rs752297179, rs2143872369, rs2041140122, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs144346996, rs139751598, rs762218403, rs1598358440, rs1180294322, rs2041157497, rs2041207320 View all (2 more)	RCV002052152 RCV002052265 RCV005029976 RCV000014078 RCV000014079 RCV000014080 RCV000014081 RCV000014082 RCV000014083 RCV000014084 RCV005025459 RCV000856791 RCV000578310 RCV000578396 RCV000856734 RCV000856792 RCV005016357 RCV001027684 RCV001251180 RCV001290341
Cervical cancer	Pathogenic	rs752297179	RCV005906948
Cutis laxa	Likely pathogenic; Pathogenic	rs1567923524, rs2510120701, rs121918374, rs121918377, rs121918378, rs2510120727, rs144346996, rs139751598, rs121918376, rs755867227, rs121918375	RCV002282883 RCV002510435 RCV000779237 RCV005237375 RCV003114191 RCV003995121 RCV000399805 RCV001584233 RCV002509452 RCV004800496 RCV004700370
Lung cancer	Pathogenic	rs121918374	RCV005887493
PYCR1- related autosomal recessive cutis laxa	Pathogenic	rs2041207320	RCV004762051
PYCR1-related de Barsy syndrome	Likely pathogenic; Pathogenic	rs2041140122, rs121918374, rs1371235353, rs121918377, rs121918378, rs144346996, rs758601634, rs139751598, rs121918376, rs755867227, rs752297179, rs121918375	RCV003314486 RCV005867751 RCV005025053 RCV000761519 RCV000014085 RCV005025459 RCV000022743 RCV005018889 RCV003992334 RCV005411506 RCV003444700 RCV005016357
PYCR1-related disorder	Likely pathogenic; Pathogenic	rs121918377, rs144346996, rs121918376, rs1356658811, rs1239327109	RCV005862712 RCV004754391 RCV003945359 RCV003898081 RCV003405502
Uterine corpus endometrial carcinoma	Pathogenic	rs121918374	RCV005887494
Wiedemann-Rautenstrauch-like progeroid syndrome	Likely pathogenic; Pathogenic	rs121918377, rs144346996, rs139751598, rs752297179, rs2041095858, rs2041157397, rs1239327109	RCV001291133 RCV001291130 RCV001291131 RCV001291252 RCV001291250 RCV001291134 RCV001291132

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Likely benign	rs145279600	RCV005905510
Cutis Laxa, Recessive	Uncertain significance	rs886053566, rs886053570, rs778823558	RCV000384280 RCV000278272 RCV000304583
Familial cancer of breast	Likely benign	rs145279600	RCV005905504
Malignant lymphoma, large B-cell, diffuse	Likely benign	rs145279600	RCV005905507
Malignant tumor of esophagus	Likely benign	rs145279600	RCV005905505
Microcephaly	Likely benign	rs138195513	RCV001252772
Sarcoma	Likely benign	rs145279600	RCV005905508
Thymoma	Likely benign	rs145279600	RCV005905509

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	36371775
Agenesis of Corpus Callosum	Associate	23963297
Breast Neoplasms	Associate	30810442, 32960509, 33109600
Carcinogenesis	Stimulate	34696668
Carcinogenesis	Associate	35293266, 36624948
Carcinoma Hepatocellular	Stimulate	34271243
Carcinoma Hepatocellular	Associate	35293266
Carcinoma Non Small Cell Lung	Associate	36202977
Carcinoma Renal Cell	Associate	31305441, 31739630, 34559102, 36624948, 37340189, 37460577, 37517099, 40430095
Carcinoma Squamous Cell	Associate	39768999
Colorectal Neoplasms	Associate	37508547
Cutis Laxa	Associate	19576563
Cutis Laxa Autosomal Recessive Type I	Associate	19576563
Esophageal Squamous Cell Carcinoma	Associate	36978187
Hepatoblastoma	Associate	39684755
Lymphatic Metastasis	Stimulate	34559102
Mitochondrial Diseases	Associate	23963297, 37410216
Nasopharyngeal Neoplasms	Associate	34696668
Neoplasm Metastasis	Associate	31305441
Neoplasms	Associate	27452673, 31305441, 32960509, 33109600, 34559102, 36371775, 37517099, 39684755, 39768999
Neoplasms	Stimulate	29169183, 36624948, 38065270
Osteogenesis imperfecta type 1A	Associate	37410216
Osteosarcoma	Associate	40383808
Postural Orthostatic Tachycardia Syndrome	Associate	23963297
Precancerous Conditions	Associate	40430095
Progeria	Associate	30450527
Prostatic Neoplasms	Associate	12057920, 17553165
Sjogren's Syndrome	Associate	35359935
Urinary Bladder Neoplasms	Associate	33096258, 36227136

PYCR1 (pyrroline-5-carboxylate reductase 1)