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Aliases for PYCR3 Gene

Aliases for PYCR3 Gene

  • Pyrroline-5-Carboxylate Reductase 3 2 3 5
  • Pyrroline-5-Carboxylate Reductase-Like 2 3
  • P5C Reductase 3 3 4
  • EC 1.5.1.2 4 58
  • P5CR 3 3 4
  • PYCRL 3 4
  • Pyrroline-5-Carboxylate Reductase-Like Protein 4

External Ids for PYCR3 Gene

Previous HGNC Symbols for PYCR3 Gene

  • PYCRL

Summaries for PYCR3 Gene

Entrez Gene Summary for PYCR3 Gene

  • This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016]

GeneCards Summary for PYCR3 Gene

PYCR3 (Pyrroline-5-Carboxylate Reductase 3) is a Protein Coding gene. Among its related pathways are Metabolism and Urea cycle and metabolism of amino groups. An important paralog of this gene is PYCR1.

UniProtKB/Swiss-Prot for PYCR3 Gene

  • Enzyme that catalyzes the last step in proline biosynthesis. Proline is synthesized from either glutamate or ornithine; both are converted to pyrroline-5-carboxylate (P5C), and then to proline via pyrroline-5-carboxylate reductases (PYCRs). PYCRL is exclusively linked to the conversion of ornithine to proline.

Additional gene information for PYCR3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PYCR3 Gene

Genomics for PYCR3 Gene

Regulatory Elements for PYCR3 Gene

Enhancers for PYCR3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H143275 1.8 FANTOM5 ENCODE dbSUPER 2.1 +330.7 330699 6.5 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 MINCR ZNF707 ZNF623 ZFP41 ZC3H3 RHPN1 PARP10 GPAA1 SHARPIN ENSG00000255050
GH08H143607 1.1 ENCODE 0.7 +0.2 152 3.5 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 NAPRT CPSF1 ENSG00000255050 ZNF707 VPS28 ZNF623 LOC105375798 ADCK5 SLC52A2 PARP10
GH08H143601 1.1 FANTOM5 Ensembl ENCODE 0.4 +7.5 7524 2 HNRNPUL1 POLR2A ZNF600 ZBTB8A SUPT5H NAPRT LOC105375798 GSDMD EEF1D VPS28 HSF1 ZNF623 MAF1 SLC39A4 PYCR3
GH08H143615 1.1 ENCODE 0.4 -7.2 -7193 3.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZBTB7B ZNF766 ZNF207 ZNF143 SP3 LOC105375798 ZNF623 AK3P2 NAPRT TSSK5P VPS28 GPAA1 GSDMD MROH6 TSTA3
GH08H143600 0.5 ENCODE 0.4 +9.0 9014 0.5 NFIC POLR2A SUPT5H MROH6 EEF1D PYCR3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PYCR3 on UCSC Golden Path with GeneCards custom track

Promoters for PYCR3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000232120 73 1401 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS SP3 SP5

Genomic Locations for PYCR3 Gene

Genomic Locations for PYCR3 Gene
chr8:143,603,913-143,609,773
(GRCh38/hg38)
Size:
5,861 bases
Orientation:
Minus strand
chr8:144,686,083-144,691,943
(GRCh37/hg19)

Genomic View for PYCR3 Gene

Genes around PYCR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PYCR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PYCR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PYCR3 Gene

Proteins for PYCR3 Gene

  • Protein details for PYCR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53H96-P5CR3_HUMAN
    Recommended name:
    Pyrroline-5-carboxylate reductase 3
    Protein Accession:
    Q53H96
    Secondary Accessions:
    • B3KMB5
    • B4DVT6
    • H0Y6C3
    • Q8N3N9
    • Q96HX4
    • Q9H896

    Protein attributes for PYCR3 Gene

    Size:
    274 amino acids
    Molecular mass:
    28663 Da
    Quaternary structure:
    • Homodecamer; composed of 5 homodimers.
    SequenceCaution:
    • Sequence=BAD96405.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAD96405.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};

    Alternative splice isoforms for PYCR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PYCR3 Gene

Selected DME Specific Peptides for PYCR3 Gene

Q53H96:
  • LAHRIAAQTLLGTAK
  • MSAVEAATCRA
  • RRVGFVGAGRMA

Post-translational modifications for PYCR3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PYCR3 Gene

Domains & Families for PYCR3 Gene

Gene Families for PYCR3 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PYCR3 Gene

Graphical View of Domain Structure for InterPro Entry

Q53H96

UniProtKB/Swiss-Prot:

P5CR3_HUMAN :
  • Belongs to the pyrroline-5-carboxylate reductase family.
Family:
  • Belongs to the pyrroline-5-carboxylate reductase family.
genes like me logo Genes that share domains with PYCR3: view

Function for PYCR3 Gene

Molecular function for PYCR3 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.42 mM for NADH {ECO:0000269 PubMed:23024808}; KM=0.37 mM for NADPH {ECO:0000269 PubMed:23024808}; KM=4.64 mM for pyrroline-5-carboxylate (in the presence of NADH) {ECO:0000269 PubMed:23024808}; KM=0.38 mM for pyrroline-5-carboxylate (in the presence of NADPH) {ECO:0000269 PubMed:23024808}; Note=kcat is 197 sec(-1) for the NADH-dependent reduction reduction of pyrroline-5-carboxylate. kcat is 35 sec(-1) for the NADPH-dependent reduction of pyrroline-5-carboxylate. {ECO:0000269 PubMed:23024808};
UniProtKB/Swiss-Prot CatalyticActivity:
L-proline + NAD(P)(+) = 1-pyrroline-5-carboxylate + NAD(P)H.
UniProtKB/Swiss-Prot EnzymeRegulation:
Not inhibited by proline.
UniProtKB/Swiss-Prot Function:
Enzyme that catalyzes the last step in proline biosynthesis. Proline is synthesized from either glutamate or ornithine; both are converted to pyrroline-5-carboxylate (P5C), and then to proline via pyrroline-5-carboxylate reductases (PYCRs). PYCRL is exclusively linked to the conversion of ornithine to proline.

Enzyme Numbers (IUBMB) for PYCR3 Gene

Phenotypes From GWAS Catalog for PYCR3 Gene

Gene Ontology (GO) - Molecular Function for PYCR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004735 pyrroline-5-carboxylate reductase activity IDA 23024808
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity IEA --
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with PYCR3: view
genes like me logo Genes that share phenotypes with PYCR3: view

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PYCR3 Gene

Localization for PYCR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PYCR3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PYCR3 gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PYCR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PYCR3: view

Pathways & Interactions for PYCR3 Gene

genes like me logo Genes that share pathways with PYCR3: view

UniProtKB/Swiss-Prot Q53H96-P5CR3_HUMAN

  • Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-proline from L-glutamate 5-semialdehyde: step 1/1.

Gene Ontology (GO) - Biological Process for PYCR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006561 proline biosynthetic process IEA --
GO:0008652 cellular amino acid biosynthetic process TAS --
GO:0055114 oxidation-reduction process IEA --
GO:0055129 L-proline biosynthetic process IEA --
genes like me logo Genes that share ontologies with PYCR3: view

No data available for SIGNOR curated interactions for PYCR3 Gene

Drugs & Compounds for PYCR3 Gene

(4) Drugs for PYCR3 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Proline Approved Nutra Target 0
hydroxyproline Approved, Experimental Pharma 0
NAD Pharma Full agonist, Agonist 0
NADH Nutra 0

(5) Additional Compounds for PYCR3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Pyrroline-5-carboxylic acid
  • (S)-1-pyrroline-5-carboxylate
  • 1-Pyrroline-5-carboxylate
  • 1-Pyrroline-5-carboxylic acid
  • 3,4-Dihydro-2h-pyrrole-2-carboxylate
  • 3,4-Dihydro-2h-pyrrole-2-carboxylic acid
2906-39-0
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Pyrroline hydroxycarboxylic acid
  • 3-Hydroxy-L-1-pyrroline-5-carboxylate
  • L-1-Pyrroline 3-hydroxy-5-carboxylate
  • L-1-Pyrroline-3-hydroxy-5-carboxylate
  • L-Delta1-pyrroline 3-hydroxy-5-carboxylate
  • Pyrroline-hydroxy-carboxylate
22573-88-2
genes like me logo Genes that share compounds with PYCR3: view

Transcripts for PYCR3 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PYCR3 Gene

No ASD Table

Relevant External Links for PYCR3 Gene

GeneLoc Exon Structure for
PYCR3
ECgene alternative splicing isoforms for
PYCR3

Expression for PYCR3 Gene

NURSA nuclear receptor signaling pathways regulating expression of PYCR3 Gene:

PYCR3

Evidence on tissue expression from TISSUES for PYCR3 Gene

  • Nervous system(4.7)
  • Lung(4.1)
  • Spleen(4.1)
  • Thyroid gland(4.1)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PYCR3 Gene

Orthologs for PYCR3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PYCR3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PYCRL 33 34
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia PYCRL 33 34
  • 85.38 (n)
cow
(Bos Taurus)
Mammalia PYCRL 33 34
  • 82.66 (n)
rat
(Rattus norvegicus)
Mammalia Pycrl 33
  • 80.66 (n)
mouse
(Mus musculus)
Mammalia Pycrl 33 16 34
  • 80.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PYCRL 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PYCRL 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves PYCRL 33 34
  • 67.05 (n)
lizard
(Anolis carolinensis)
Reptilia PYCRL 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pycrl 33
  • 64.84 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16788 33
zebrafish
(Danio rerio)
Actinopterygii pycrl 33 34
  • 60.88 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005009 33
  • 51.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5840 33
  • 51.14 (n)
P5cr 34
  • 39 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea M153.1 33
  • 50.19 (n)
F55G1.9 34
  • 29 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRO3 34 36
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons P5CR 33
  • 45.12 (n)
rice
(Oryza sativa)
Liliopsida Os01g0948400 33
  • 46.23 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
ManyToMany
Species where no ortholog for PYCR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PYCR3 Gene

ENSEMBL:
Gene Tree for PYCR3 (if available)
TreeFam:
Gene Tree for PYCR3 (if available)

Paralogs for PYCR3 Gene

Paralogs for PYCR3 Gene

genes like me logo Genes that share paralogs with PYCR3: view

Variants for PYCR3 Gene

Sequence variations from dbSNP and Humsavar for PYCR3 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs193920765 Uncertain significance 143,609,533(-) CGGAG(C/T)CGTCT nc-transcript-variant, reference, missense
rs1001161514 -- 143,607,879(+) TTTGG(C/T)CCTCC intron-variant
rs1001480199 -- 143,609,695(+) CCGGC(C/T)GGCTT upstream-variant-2KB
rs1001884430 -- 143,602,770(+) AGTGA(A/C/T)CCCCG downstream-variant-500B
rs1001931431 -- 143,607,745(+) CGCAC(A/G)TGCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PYCR3 Gene

Variant ID Type Subtype PubMed ID
nsv950013 CNV deletion 24416366
nsv831488 CNV loss 17160897
nsv6439 CNV deletion 18451855
nsv612849 CNV loss 21841781
nsv612822 CNV gain 21841781
nsv612813 CNV loss 21841781
nsv612793 CNV loss 21841781
nsv612777 CNV gain 21841781
nsv612774 CNV loss 21841781
nsv516210 CNV loss 19592680
nsv470247 CNV loss 18288195
nsv466004 CNV loss 19166990
nsv1161810 CNV deletion 26073780
nsv1161809 CNV deletion 26073780
esv3397304 CNV duplication 20981092
dgv7336n100 CNV gain 25217958
dgv271n111 CNV deletion 26073780
dgv12419n54 CNV loss 21841781
dgv12418n54 CNV loss 21841781
dgv12410n54 CNV loss 21841781

Variation tolerance for PYCR3 Gene

Residual Variation Intolerance Score: 91.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.97; 93.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PYCR3 Gene

Human Gene Mutation Database (HGMD)
PYCR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PYCR3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PYCR3 Gene

Disorders for PYCR3 Gene

Relevant External Links for PYCR3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PYCR3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PYCR3

No disorders were found for PYCR3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PYCR3 Gene

Publications for PYCR3 Gene

  1. Functional specialization in proline biosynthesis of melanoma. (PMID: 23024808) De Ingeniis J … Smith JW (PloS one 2012) 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 60
  5. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T … Xu J (Neurobiology of aging 2015) 3 60

Products for PYCR3 Gene

Sources for PYCR3 Gene

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