PYCR1 - pyrroline-5-carboxylate reductase 1 Gene

Also Known as P5C; P5CR; PRO3; PYCR; PIG45; PP222; ARCL2B; ARCL3B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5831

About PYCR1

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,932,391-81,937,300 (from NCBI)

This gene has 17 transcripts (splice variants), 267 orthologues, 3 paralogues and is associated with 6 phenotypes. Broad expression in salivary gland (RPKM 19.9), stomach (RPKM 16.0) and 19 other tissues.

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 to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

PYCR1 Products (6)

mRNA	Protein	Name
NM_001282279.2	NP_001269208.1	pyrroline-5-carboxylate reductase 1, mitochondrial isoform 3
NM_001282280.2	NP_001269209.1	pyrroline-5-carboxylate reductase 1, mitochondrial isoform 1
NM_001282281.2	NP_001269210.1	pyrroline-5-carboxylate reductase 1, mitochondrial isoform 5
NM_001330523.2	NP_001317452.1	pyrroline-5-carboxylate reductase 1, mitochondrial isoform 6
NM_006907.4	NP_008838.2	pyrroline-5-carboxylate reductase 1, mitochondrial isoform 1
NM_153824.3	NP_722546.1	pyrroline-5-carboxylate reductase 1, mitochondrial isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	2722838	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23743200	GOA
enables pyrroline-5-carboxylate reductase activity	IDA IDA: Inferred from direct assay	16730026	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to oxidative stress	IMP IMP: Inferred from mutant phenotype	19648921	GOA
involved in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	23743200	GOA
involved in proline biosynthetic process	IDA IDA: Inferred from direct assay	16730026	GOA
involved in regulation of mitochondrial membrane potential	IMP IMP: Inferred from mutant phenotype	23743200	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	19648921	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PYCR1 Protein Structure

F420_oxidored

P5CR_dimer

0
100
200
300
319 a.a.

Protein Preferred Names	Protein Names
pyrroline-5-carboxylate reductase 1, mitochondrial	P5C reductase 1

PYCR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PYCR1	P32322	PARK7	Homo sapiens	Q99497	IF	23743200
Intra	PYCR1	P32322	PARK7	Homo sapiens	Q99497	Anti Tag CoIP	23743200
Intra	PYCR1	P32322	PYCR1	Homo sapiens	P32322	X-Ray Diffraction	16730026
Intra	PYCR1	P32322	PYCR2	Homo sapiens	Q96C36	Anti Tag CoIP	33961781
Intra	PYCR1	P32322	PYCR2	Homo sapiens	Q96C36	Anti Tag CoIP	28514442
Intra	PYCR1	P32322	NUDT5	Homo sapiens	Q9UKK9	Anti Tag CoIP	33961781
Intra	PYCR1	P32322	PYCR1	Homo sapiens	P32322	GMS	2722838
Intra	PYCR1	P32322	NUDT5	Homo sapiens	Q9UKK9	Anti Tag CoIP	28514442
Intra	PYCR1	P32322	PYCR3	Homo sapiens	Q53H96	Anti Tag CoIP	28514442
Intra	PYCR1	P32322	PYCR1	Homo sapiens	P32322	GMS	16730026

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cutis Laxa, Autosomal Recessive, Type Iib	ARCL2B Cutis Laxa With Progeroid Features Autosomal Recessive Cutis Laxa Type 2b Autosomal Recessive Cutis Laxa Type Iib Arcl2, Progeroid Type Cutis Laxa, Autosomal Recessive Type 2b Autosomal Recessive Cutis Laxa Type 2, Progeroid Type Cutis Laxa, Autosomal Recessive, 2b Cl Type Iib Cutis Laxa Autosomal Recessive Type Iib Cutis Laxa, Autosomal Recessive, Type 2b
Cutis Laxa, Autosomal Recessive, Type Iiib	ARCL3B De Barsy Syndrome B Pycr1-Related De Barsy Syndrome Autosomal Recessive Cutis Laxa Type Iiib Pycr1 Deficiency Pyrroline-5-Carboxylate Reductase 1 Deficiency Cutis Laxa, Autosomal Recessive, 3b Cutis Laxa Autosomal Recessive Type Iiib Cutis Laxa, Autosomal Recessive, Type 3b
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Geroderma Osteodysplasticum	Gerodermia Osteodysplastica Geroderma Osteodysplastica GO Walt Disney Dwarfism Type Of Gerodermia Osteodysplastica
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Autosomal Recessive Cutis Laxa Type Iii	De Barsy Syndrome Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome Progeroid Syndrome, De Barsy Type Corneal Clouding, Cutis Laxa And Intellectual Disability Cutis Laxa Growth Deficiency Syndrome Progeroid Syndrome Of De Barsy
Wrinkly Skin Syndrome	WSS Wrinkled Skin Syndrome
Cutis Laxa, Autosomal Recessive, Type Iiia	ARCL3A De Barsy Syndrome A Aldh18a1-Related De Barsy Syndrome Progeroid Syndrome Of De Barsy Autosomal Recessive Cutis Laxa Type Iiia P5cs Deficiency De Barsy Syndrome Cutis Laxa, Corneal Clouding, And Mental Retardation Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency Neurocutaneous Syndrome, Bicknell Type Cutis Laxa Corneal Clouding Mental Retardation Progeroid Syndrome De Barsy Type Cutis Laxa, Autosomal Recessive, 3a Cutis Laxa Autosomal Recessive Type Iiia Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin Neurocutaneous Syndrome Bicknell Type Corneal Clouding Cutis Laxa Mental Retardation
Cutis Laxa, Autosomal Dominant 3	ADCL3 Autosomal Dominant Cutis Laxa 3 Cutis Laxa, Autosomal Dominant, 3
Leukodystrophy, Hypomyelinating, 10	Hypomyelinating Leukodystrophy 10 HLD10 Pycr2-Related Microcephaly-Progressive Leukoencephalopathy Leukodystrophy, Hypomyelinating, Type 10
Cutis Laxa, Autosomal Recessive, Type Iia	ARCL2A Cutis Laxa With Joint Laxity And Retarded Development Cutis Laxa With Growth And Developmental Delay Cutis Laxa, Debre Type Cutis Laxa With Bone Dystrophy Arcl2 Cutis Laxa With Congenital Disorder Of Glycosylation Autosomal Recessive Cutis Laxa Type Iia Cutis Laxa, Autosomal Recessive Type 2a Cutis Laxa, Autosomal Recessive, 2a Cl Type Iia Cutis Laxa Autosomal Recessive Type Iia
Autosomal Recessive Cutis Laxa Type Ii Classic Type	Arcl2, Classic Type Arcl2, Debre Type Autosomal Recessive Cutis Laxa Type 2, Classic Type Autosomal Recessive Cutis Laxa Type 2, Debre Type
Linear Skin Defects With Multiple Congenital Anomalies 2	LSDMCA2 Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism, And Other Congenital Anomalies Aplcc Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism And Other Congenital Anomalies
Borderline Glaucoma	Preglaucoma
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Cutis Laxa, Autosomal Recessive, Type Ib	ARCL1B Cutis Laxa, Autosomal Recessive, Type 1b Autosomal Recessive Cutis Laxa Type Ib Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency Cutis Laxa, Autosomal Recessive, 1b Cutis Laxa Autosomal Recessive Type Ib
Autosomal Recessive Cutis Laxa Type I	Autosomal Recessive Cutis Laxa Type 1 Cutis Laxa, Type 1 Cutis Laxa, Autosomal Recessive, Type I Cutis Laxa, Autosomal Recessive Type 1 Cutis Laxa, Autosomal Recessive Arcl1 Autosomal Recessive Cutis Laxa With Severe Systemic Involvement Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type
Cutis Laxa, Autosomal Dominant 1	Cutis Laxa, Autosomal Dominant Autosomal Dominant Cutis Laxa ADCL1 Adcl Autosomal Dominant Cutis Laxa 1 Cutis Laxa, Autosomal Dominant, 1 Cutis Laxa, Autosomal Dominant, Type 1
Inguinal Hernia	Hernia Inguinal Hernia, Inguinal Inguinal Hernias Bubonocele Indirect Inguinal Hernia Direct Inguinal Hernia Oblique Inguinal Hernia Scrotal Hernia Ih - [Inguinal Hernia]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-126271	PYCR1-IN-1	Inhibitor	99.65%	Unkown
HY-158426	2-APQC	Agonist	99.70%	Unkown
HY-RS11486	PYCR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18544	Pycr1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25026	Pycr1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PYCR1	VGNC	VGNC:99327
Canis familiaris	PYCR1	VGNC	VGNC:45223
Rattus norvegicus	PYCR1	RGD	RGD:1307863
Mus musculus	PYCR1	MGD	MGI:2384795
Macaca mulatta	PYCR1	VGNC	VGNC:76630
Bos taurus	PYCR1	VGNC	VGNC:33586
Others	PYCR1	NCBI