PYCR1 (pyrroline-5-carboxylate reductase 1)

2017-04-01  

Identity

HGNC
PYCR1
LOCATION
17q25.3
LOCUSID
5831
ALIAS
ARCL2B,ARCL3B,P5C,P5CR,PIG45,PP222,PRO3,PYCR
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5831
MIM: 179035
HGNC: 9721
Ensembl: ENSG00000183010

Variants:

dbSNP: 5831
ClinVar: 5831
TCGA: ENSG00000183010
COSMIC: PYCR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183010ENST00000329875P32322
ENSG00000183010ENST00000329875A0A024R8U9
ENSG00000183010ENST00000337943P32322
ENSG00000183010ENST00000402252P32322
ENSG00000183010ENST00000403172E2QRB3
ENSG00000183010ENST00000405481J3KQ22
ENSG00000183010ENST00000577624J3QR88
ENSG00000183010ENST00000577756J3QL32
ENSG00000183010ENST00000579366J3KSA9
ENSG00000183010ENST00000579698J3QLK9
ENSG00000183010ENST00000581271J3QRZ0
ENSG00000183010ENST00000582198J3QKT4
ENSG00000183010ENST00000583564J3QKT3
ENSG00000183010ENST00000584848J3QL23
ENSG00000183010ENST00000585215J3QL24
ENSG00000183010ENST00000585244J3KTA8
ENSG00000183010ENST00000619204P32322
ENSG00000183010ENST00000619204A0A024R8U9
ENSG00000183010ENST00000629768J3QL32

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Arginine and proline metabolismKEGGko00330
Arginine and proline metabolismKEGGhsa00330
Metabolic pathwaysKEGGhsa01100
Proline biosynthesis, glutamate => prolineKEGGhsa_M00015
Proline biosynthesis, glutamate => prolineKEGGM00015
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amino acid synthesis and interconversion (transamination)REACTOMER-HSA-70614

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
196489212009Mutations in PYCR1 cause cutis laxa with progeroid features.67
195765632009Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.24
167300262006Crystal structure of human pyrroline-5-carboxylate reductase.23
267333542016PYCR1 and PYCR2 Interact and Collaborate with RRM2B to Protect Cells from Overt Oxidative Stress.21
280785602017Knockdown of PYCR1 inhibits cell proliferation and colony formation via cell cycle arrest and apoptosis in prostate cancer.19
283792972017Human mitochondrial pyrroline-5-carboxylate reductase 1 promotes invasiveness and impacts survival in breast cancers.19
240356362013Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.18
237432002013DJ-1 cooperates with PYCR1 in cell protection against oxidative stress.15
282582192017Resolving the cofactor-binding site in the proline biosynthetic enzyme human pyrroline-5-carboxylate reductase 1.10
295621672018Oncogenic IDH1 Mutations Promote Enhanced Proline Synthesis through PYCR1 to Support the Maintenance of Mitochondrial Redox Homeostasis.10

Citation

Dessen P

PYCR1 (pyrroline-5-carboxylate reductase 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56746/pycr1