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

    Gene ID: 65263, updated on 5-Mar-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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    Location:
    8q24.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (143603210..143609575, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144752622..144758991, complement)
    105.20220307 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. Purified human erythrocyte pyrroline-5-carboxylate reductase. Preferential oxidation of NADPH. Merrill MJ, et al. J Biol Chem, 1989 Jun 5. PMID 2722838
    2. Functional specialization in proline biosynthesis of melanoma. De Ingeniis J, et al. PLoS One, 2012. PMID 23024808, Free PMC Article
    3. Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. Kirin M, et al. Hum Mol Genet, 2013 Aug 1. PMID 23585552
    4. Identification of human protein interaction domains using an ORFeome-based yeast two-hybrid fragment library. Waaijers S, et al. J Proteome Res, 2013 Jul 5. PMID 23718855
    5. Multifaceted Regulation of Akt by Diverse C-Terminal Post-translational Modifications. Salguero AL, et al. ACS Chem Biol, 2022 Jan 21. PMID 34941261, Free PMC Article

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    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 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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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