Human Gene PYCR2 (ENST00000343818.11_7) from GENCODE V47lift37
  Description: pyrroline-5-carboxylate reductase 2, transcript variant 1 (from RefSeq NM_013328.4)
Gencode Transcript: ENST00000343818.11_7
Gencode Gene: ENSG00000143811.20_12
Transcript (Including UTRs)
   Position: hg19 chr1:226,107,578-226,111,950 Size: 4,373 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr1:226,108,155-226,111,810 Size: 3,656 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:226,107,578-226,111,950)mRNA (may differ from genome)Protein (320 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: P5CR2_HUMAN
DESCRIPTION: RecName: Full=Pyrroline-5-carboxylate reductase 2; Short=P5C reductase 2; Short=P5CR 2; EC=1.5.1.2;
FUNCTION: Housekeeping enzyme that catalyzes the last step in proline biosynthesis. In some cell types, such as erythrocytes, its primary function may be the generation of NADP(+). Can utilize both NAD and NADP. Has higher affinity for NADP, but higher catalytic efficiency with NADH.
CATALYTIC ACTIVITY: L-proline + NAD(P)(+) = 1-pyrroline-5- carboxylate + NAD(P)H.
ENZYME REGULATION: Subject to competitive inhibition by NADP. Not inhibited by proline.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.64 mM for NADH; KM=0.04 mM for NADPH; KM=1.49 mM for pyrroline-5-carboxylate (in the presence of NADH); KM=0.23 mM for pyrroline-5-carboxylate (in the presence of NADPH); Vmax=28.5 umol/min/ug enzyme (in the presence of NADH); Vmax=3.7 umol/min/ug enzyme (in the presence of NADPH);
PATHWAY: Amino-acid biosynthesis; L-proline biosynthesis; L- proline from L-glutamate 5-semialdehyde: step 1/1.
SUBUNIT: Homodecamer; composed of 5 homodimers (Probable).
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Detected in erythrocytes (at protein level).
SIMILARITY: Belongs to the pyrroline-5-carboxylate reductase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PYCR2
Diseases sorted by gene-association score: leukodystrophy, hypomyelinating, 10* (1238), visual cortex disease (9), visual pathway disease (9), hypomyelinating leukodystrophy (5), microcephaly (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 54.63 RPKM in Pituitary
Total median expression: 1630.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.20140-0.387 Picture PostScript Text
3' UTR -181.70577-0.315 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008927 - 6-PGluconate_DH_C-like
IPR016040 - NAD(P)-bd_dom
IPR004455 - NADP_OxRdtase_F420
IPR000304 - Pyrroline-COOH_reductase

Pfam Domains:
PF03807 - NADP oxidoreductase coenzyme F420-dependent
PF14748 - Pyrroline-5-carboxylate reductase dimerisation

SCOP Domains:
48179 - 6-phosphogluconate dehydrogenase C-terminal domain-like
51735 - NAD(P)-binding Rossmann-fold domains
53686 - Tryptophan synthase beta subunit-like PLP-dependent enzymes

ModBase Predicted Comparative 3D Structure on Q96C36
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004735 pyrroline-5-carboxylate reductase activity
GO:0016491 oxidoreductase activity

Biological Process:
GO:0006561 proline biosynthetic process
GO:0008652 cellular amino acid biosynthetic process
GO:0034599 cellular response to oxidative stress
GO:0055114 oxidation-reduction process
GO:0055129 L-proline biosynthetic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  AK298845 - Homo sapiens cDNA FLJ54750 complete cds, moderately similar to Pyrroline-5-carboxylate reductase 2 (EC 1.5.1.2).
AL834217 - Homo sapiens mRNA; cDNA DKFZp434J218 (from clone DKFZp434J218).
BC014868 - Homo sapiens pyrroline-5-carboxylate reductase family, member 2, mRNA (cDNA clone MGC:9323 IMAGE:3919161), complete cds.
AK001508 - Homo sapiens cDNA FLJ10646 fis, clone NT2RP2005773, highly similar to Pyrroline-5-carboxylate reductase 2 (EC 1.5.1.2).
BC020553 - Homo sapiens pyrroline-5-carboxylate reductase family, member 2, mRNA (cDNA clone MGC:21444 IMAGE:2901360), complete cds.
AK291913 - Homo sapiens cDNA FLJ75752 complete cds, highly similar to Homo sapiens pyrroline-5-carboxylate reductase family, member 2 (PYCR2), mRNA.
JD562782 - Sequence 543806 from Patent EP1572962.
JD490761 - Sequence 471785 from Patent EP1572962.
JD338445 - Sequence 319469 from Patent EP1572962.
JD117787 - Sequence 98811 from Patent EP1572962.
JD158245 - Sequence 139269 from Patent EP1572962.
JD200637 - Sequence 181661 from Patent EP1572962.
JD140845 - Sequence 121869 from Patent EP1572962.
JD240374 - Sequence 221398 from Patent EP1572962.
JD436805 - Sequence 417829 from Patent EP1572962.
JD077698 - Sequence 58722 from Patent EP1572962.
JD363365 - Sequence 344389 from Patent EP1572962.
JD444736 - Sequence 425760 from Patent EP1572962.
JD361237 - Sequence 342261 from Patent EP1572962.
JD074027 - Sequence 55051 from Patent EP1572962.
JD121571 - Sequence 102595 from Patent EP1572962.
AF087859 - Homo sapiens pyrroline 5-carboxylate reductase mRNA, complete cds.
JD146153 - Sequence 127177 from Patent EP1572962.
AF151351 - Homo sapiens pyrroline 5-carboxylate reductase isoform (P5CR2) mRNA, complete cds.
HQ447797 - Synthetic construct Homo sapiens clone IMAGE:100071140; CCSB000430_01 pyrroline-5-carboxylate reductase family, member 2 (PYCR2) gene, encodes complete protein.
KJ893710 - Synthetic construct Homo sapiens clone ccsbBroadEn_03104 PYCR2 gene, encodes complete protein.
KU178615 - Homo sapiens pyrroline-5-carboxylate reductase family member 2 isoform 1 (PYCR2) mRNA, partial cds.
KU178616 - Homo sapiens pyrroline-5-carboxylate reductase family member 2 isoform 2 (PYCR2) mRNA, complete cds, alternatively spliced.
CU676554 - Synthetic construct Homo sapiens gateway clone IMAGE:100018902 5' read PYCR2 mRNA.
JD021563 - Sequence 2587 from Patent EP1572962.
JD033733 - Sequence 14757 from Patent EP1572962.
JD020758 - Sequence 1782 from Patent EP1572962.
JD031029 - Sequence 12053 from Patent EP1572962.
JD399917 - Sequence 380941 from Patent EP1572962.
JD171333 - Sequence 152357 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PROSYN-PWY - L-proline biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q96C36 (Reactome details) participates in the following event(s):

R-HSA-6783939 PYCR2 decamer reduces (S)-1-pyrroline-5-carboxylate to L-Pro
R-HSA-70614 Amino acid synthesis and interconversion (transamination)
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K798, ENST00000343818.1, ENST00000343818.10, ENST00000343818.2, ENST00000343818.3, ENST00000343818.4, ENST00000343818.5, ENST00000343818.6, ENST00000343818.7, ENST00000343818.8, ENST00000343818.9, NM_013328, P5CR2_HUMAN, Q7Z515, Q96C36, Q9Y5J4, uc317wti.1, uc317wti.2
UCSC ID: ENST00000343818.11_7
RefSeq Accession: NM_013328.4
Protein: Q96C36 (aka P5CR2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.