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PYCR3 pyrroline-5-carboxylate reductase 3 [ Homo sapiens (human) ]

Gene ID: 65263, updated on 27-Nov-2024

Summary

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Official Symbol
PYCR3provided by HGNC
Official Full Name
pyrroline-5-carboxylate reductase 3provided by HGNC
Primary source
HGNC:HGNC:25846
See related
Ensembl:ENSG00000104524 MIM:616408; AllianceGenome:HGNC:25846
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PYCRL
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 2.8), thyroid (RPKM 2.6) and 25 other tissues See more
Orthologs
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Genomic context

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See PYCR3 in Genome Data Viewer
Location:
8q24.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (143603210..143609575, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144752622..144758991, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144685380..144691745, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144659908-144660815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144660816-144661724 Neighboring gene nicotinate phosphoribosyltransferase Neighboring gene eukaryotic translation elongation factor 1 delta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144671257-144671758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144671759-144672258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144678233-144678832 Neighboring gene tigger transposable element derived 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144692853-144693352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144699896-144700500 Neighboring gene GDP-L-fucose synthase Neighboring gene uncharacterized LOC105375798

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. PYCR3 modulates mtDNA copy number to drive proliferation and doxorubicin resistance in triple-negative breast cancer. Zhuang F, et al. Int J Biochem Cell Biol, 2024 Jun. PMID 38642827
  2. Purified human erythrocyte pyrroline-5-carboxylate reductase. Preferential oxidation of NADPH. Merrill MJ, et al. J Biol Chem, 1989 Jun 5. PMID 2722838
  3. Functional specialization in proline biosynthesis of melanoma. De Ingeniis J, et al. PLoS One, 2012. PMID 23024808, Free PMC Article
  4. Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. Kirin M, et al. Hum Mol Genet, 2013 Aug 1. PMID 23585552
  5. P300 Interacted With N-Myc and Regulated Its Protein Stability via Altering Its Post-Translational Modifications in Neuroblastoma. Cheng C, et al. Mol Cell Proteomics, 2023 Mar. PMID 36708875, Free PMC Article

See all (73) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PYCR3 modulates mtDNA copy number to drive proliferation and doxorubicin resistance in triple-negative breast cancer.
    Title: PYCR3 modulates mtDNA copy number to drive proliferation and doxorubicin resistance in triple-negative breast cancer.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of pyrroline-5-carboxylate reductase-like (PYCRL) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ13852

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables pyrroline-5-carboxylate reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables pyrroline-5-carboxylate reductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in L-proline biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in L-proline biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in L-proline biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in intercellular bridge IDA
Inferred from Direct Assay
more info
  
located_in mitotic spindle IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
pyrroline-5-carboxylate reductase 3
Names
P5C reductase 3
P5CR 3
pyrroline-5-carboxylate reductase-like
NP_001316795.2
NP_075566.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051357.1 RefSeqGene

    Range
    5040..11405
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001329866.3 → NP_001316795.2  pyrroline-5-carboxylate reductase 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the shorter isoform (2).
    Source sequence(s)
    AC067930, AK294615, AK301225, AL833857, DA403767
    Consensus CDS
    CCDS94351.1
    Related
    ENSP00000404493.2, ENST00000433751.5
    Conserved Domains (1) summary
    cl25964
    Location:10 → 253
    P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation

  2. NM_023078.6 → NP_075566.3  pyrroline-5-carboxylate reductase 3 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC067930, BC007993, DA629534
    Consensus CDS
    CCDS6407.3
    UniProtKB/Swiss-Prot
    B3KMB5, B4DVT6, H0Y6C3, Q53H96, Q8N3N9, Q96HX4, Q9H896
    Related
    ENSP00000480945.1, ENST00000495276.6
    Conserved Domains (1) summary
    cl25964
    Location:10 → 273
    P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation

RNA

  1. NR_138144.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC067930, AK294615, AL833857, DA403767

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    143603210..143609575 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187571.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    93250..99615 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    144752622..144758991 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53H96.3 GenPept UniProtKB/Swiss-Prot:Q53H96

Gene LinkOut

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