PYCR1 - pyrroline-5-carboxylate reductase 1 Gene

Homo sapiens

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

Gene ID: 5831 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11486	PYCR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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