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Gene: PYCR1 (pyrroline-5-carboxylate reductase 1) Homo sapiens
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Symbol: PYCR1
Name: pyrroline-5-carboxylate reductase 1
Description: Exhibits identical protein binding activity and pyrroline-5-carboxylate reductase activity. Involved in several processes, including negative regulation of hydrogen peroxide-induced cell death; proline biosynthetic process; and regulation of mitochondrial membrane potential. Localizes to mitochondrion. Implicated in autosomal recessive cutis laxa type IIB and autosomal recessive cutis laxa type IIIB.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARCL2B; ARCL3B; mitochondrial pyrroline-5-carboxylate reductase 1; P5C; P5C reductase 1; P5CR; P5CR 1; PIG45; PP222; PRO3; proliferation-inducing protein 45; PYCR; pyrroline-5-carboxylate reductase 1, mitochondrial
Orthologs:
Mus musculus (house mouse) : Pycr1 (pyrroline-5-carboxylate reductase 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pycr1 (pyrroline-5-carboxylate reductase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pycr1 (pyrroline-5-carboxylate reductase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : PYCR1 (pyrroline-5-carboxylate reductase 1)
Canis lupus familiaris (dog) : PYCR1 (pyrroline-5-carboxylate reductase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pycr1 (pyrroline-5-carboxylate reductase 1)
Sus scrofa (pig) : PYCR1 (pyrroline-5-carboxylate reductase 1)
Chlorocebus sabaeus (African green monkey) : PYCR1 (pyrroline-5-carboxylate reductase 1)
Heterocephalus glaber (naked mole-rat) : Pycr1 (pyrroline-5-carboxylate reductase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1781,932,384 - 81,942,412 (-)EnsemblGRCh38hg38GRCh38
GRCh381781,932,384 - 81,937,328 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371779,890,260 - 79,895,203 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361777,483,558 - 77,488,259 (-)NCBINCBI36hg18NCBI36
Celera1776,494,307 - 76,499,008 (-)NCBI
Cytogenetic Map17q25.3NCBI
HuRef1775,291,232 - 75,295,933 (-)NCBIHuRef
CHM1_11779,976,464 - 79,981,408 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants

Additional Information

External Database Links
 
More on PYCR1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1317303
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-05-05
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.