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    PYCR1 pyrroline-5-carboxylate reductase 1 [ Homo sapiens (human) ]

    Gene ID: 5831, updated on 3-Nov-2024

    Summary

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    Official Symbol
    PYCR1provided by HGNC
    Official Full Name
    pyrroline-5-carboxylate reductase 1provided by HGNC
    Primary source
    HGNC:HGNC:9721
    See related
    Ensembl:ENSG00000183010 MIM:179035; AllianceGenome:HGNC:9721
    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
    P5C; P5CR; PRO3; PYCR; PIG45; PP222; ARCL2B; ARCL3B
    Summary
    This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Expression
    Broad expression in salivary gland (RPKM 19.9), stomach (RPKM 16.0) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PYCR1 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81932391..81937300, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82799550..82804459, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79890267..79895176, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:79880785-79881984 Neighboring gene MAF bZIP transcription factor G Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79882682-79883637 Neighboring gene MAFG antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9171 Neighboring gene MYC inducible lncRNA inactivating p53 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9172 Neighboring gene myeloid associated differentiation marker like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79906363-79906863 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79914359-79914943 Neighboring gene notum, palmitoleoyl-protein carboxylesterase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79914944-79915527 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr17:79917211-79917773 and GRCh37_chr17:79917774-79918336

    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. Knockdown of PYCR1 inhibits cell proliferation and colony formation via cell cycle arrest and apoptosis in prostate cancer. Zeng T, et al. Med Oncol, 2017 Feb. PMID 28078560
    2. Proline synthesis through PYCR1 is required to support cancer cell proliferation and survival in oxygen-limiting conditions. Westbrook RL, et al. Cell Rep, 2022 Feb 1. PMID 35108535, Free PMC Article
    3. Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2. Scherrer DZ, et al. Eur J Med Genet, 2013 Jun. PMID 23531708
    4. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Dimopoulou A, et al. Mol Genet Metab, 2013 Nov. PMID 24035636
    5. Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ(1)-piperideine-6-carboxylate generating L-pipecolic acid. Struys EA, et al. J Inherit Metab Dis, 2014 May. PMID 24431009

    See all (153) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Crosstalk between FTH1 and PYCR1 dysregulates proline metabolism and mediates cell growth in KRAS-mutant pancreatic cancer cells.
      Title: Crosstalk between FTH1 and PYCR1 dysregulates proline metabolism and mediates cell growth in KRAS-mutant pancreatic cancer cells.
    2. A micropeptide TREMP encoded by lincR-PPP2R5C promotes Th2 cell differentiation by interacting with PYCR1 in allergic airway inflammation.
      Title: A micropeptide TREMP encoded by lincR-PPP2R5C promotes Th2 cell differentiation by interacting with PYCR1 in allergic airway inflammation.
    3. PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma: A Clinicopathologic, Prognostic, and Immunohistochemical Study.
      Title: PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma: A Clinicopathologic, Prognostic, and Immunohistochemical Study.
    4. LINC01123 acts as an oncogenic driver in lung adenocarcinoma by regulating the miR-4766-5p/PYCR1 axis.
      Title: LINC01123 acts as an oncogenic driver in lung adenocarcinoma by regulating the miR-4766-5p/PYCR1 axis.
    5. Pyrroline-5-carboxylate reductase 1 reprograms proline metabolism to drive breast cancer stemness under psychological stress.
      Title: Pyrroline-5-carboxylate reductase 1 reprograms proline metabolism to drive breast cancer stemness under psychological stress.
    6. IGF1R-phosphorylated PYCR1 facilitates ELK4 transcriptional activity and sustains tumor growth under hypoxia.
      Title: IGF1R-phosphorylated PYCR1 facilitates ELK4 transcriptional activity and sustains tumor growth under hypoxia.
    7. Effects of PYCR1 on prognosis and immunotherapy plus tyrosine kinase inhibition responsiveness in metastatic renal cell carcinoma patients.
      Title: Effects of PYCR1 on prognosis and immunotherapy plus tyrosine kinase inhibition responsiveness in metastatic renal cell carcinoma patients.
    8. SENP3 affects the expression of PYCR1 to promote bladder cancer proliferation and EMT transformation by deSUMOylation of STAT3.
      Title: SENP3 affects the expression of PYCR1 to promote bladder cancer proliferation and EMT transformation by deSUMOylation of STAT3.
    9. The role of PYCR1 in inhibiting 5-fluorouracil-induced ferroptosis and apoptosis through SLC25A10 in colorectal cancer.
      Title: The role of PYCR1 in inhibiting 5-fluorouracil-induced ferroptosis and apoptosis through SLC25A10 in colorectal cancer.
    10. Cancer-associated fibroblasts require proline synthesis by PYCR1 for the deposition of pro-tumorigenic extracellular matrix.
      Title: Cancer-associated fibroblasts require proline synthesis by PYCR1 for the deposition of pro-tumorigenic extracellular matrix.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    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

    Associated conditions

    Description Tests
    Autosomal recessive cutis laxa type 2B
    MedGen: C2751987 OMIM: 612940 GeneReviews: Not available
    		Compare labs
    PYCR1-related de Barsy syndrome
    MedGen: C3280799 OMIM: 614438 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proline biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mitochondrial membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pyrroline-5-carboxylate reductase 1, mitochondrial
    Names
    P5C reductase 1
    proliferation-inducing protein 45
    NP_001269208.1
    NP_001269209.1
    NP_001269210.1
    NP_001317452.1
    NP_008838.2
    NP_722546.1
    XP_005256438.1
    XP_011521885.1
    XP_011521886.1
    XP_011521887.1
    XP_024306617.1
    XP_047292453.1
    XP_047292454.1
    XP_054172792.1
    XP_054172793.1
    XP_054172794.1
    XP_054172795.1
    XP_054172796.1
    XP_054172797.1
    XP_054172798.1

    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_023032.2 RefSeqGene

      Range
      5000..9909
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282279.2 → NP_001269208.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform 3

      See identical proteins and their annotated locations for NP_001269208.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region and an alternate exon, and initiates translation at an alternate start codon, compared to variant 5. The encoded isoform (3) is shorter than isoform 5.
      Source sequence(s)
      AC145207
      Consensus CDS
      CCDS62365.1
      UniProtKB/TrEMBL
      E2QRB3, E7D7X9
      Related
      ENSP00000385483.4, ENST00000403172.8
      Conserved Domains (1) summary
      cl25964
      Location:1 → 237
      P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation

    2. NM_001282280.2 → NP_001269209.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_001269209.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 5. The encoded isoform (1) has a distinct N-terminus and is shorter than isoform 5. Variants 1 and 4 encode the same protein.
      Source sequence(s)
      AC145207
      Consensus CDS
      CCDS11795.1
      UniProtKB/Swiss-Prot
      A6NFM2, B4DMU0, P32322, Q6FHI4, Q96DI6, Q9HBQ4
      UniProtKB/TrEMBL
      A0A1B2JLU7, E7D7X9, E7D7Y0
      Related
      ENSP00000479793.1, ENST00000619204.4
      Conserved Domains (1) summary
      PLN02688
      Location:1 → 268
      PLN02688; pyrroline-5-carboxylate reductase

    3. NM_001282281.2 → NP_001269210.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform 5

      See identical proteins and their annotated locations for NP_001269210.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) encodes the longest isoform (5).
      Source sequence(s)
      AC145207
      Consensus CDS
      CCDS62366.1
      UniProtKB/TrEMBL
      A0A1B2JLU7, E7D7X9, E7D7Y0
      Related
      ENSP00000384949.2, ENST00000402252.6
      Conserved Domains (1) summary
      cl25964
      Location:28 → 295
      P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation

    4. NM_001330523.2 → NP_001317452.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC145207
      Consensus CDS
      CCDS82221.1
      UniProtKB/TrEMBL
      J3QL24, J3QL32
      Related
      ENSP00000485679.1, ENST00000629768.2
      Conserved Domains (1) summary
      PLN02688
      Location:1 → 214
      PLN02688; pyrroline-5-carboxylate reductase

    5. NM_006907.4 → NP_008838.2  pyrroline-5-carboxylate reductase 1, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_008838.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 5. The encoded isoform (1) has a distinct N-terminus and is shorter than isoform 5. Variants 1 and 4 encode the same protein.
      Source sequence(s)
      AC145207
      Consensus CDS
      CCDS11795.1
      UniProtKB/Swiss-Prot
      A6NFM2, B4DMU0, P32322, Q6FHI4, Q96DI6, Q9HBQ4
      UniProtKB/TrEMBL
      A0A1B2JLU7, E7D7X9, E7D7Y0
      Related
      ENSP00000328858.8, ENST00000329875.13
      Conserved Domains (1) summary
      PLN02688
      Location:1 → 268
      PLN02688; pyrroline-5-carboxylate reductase

    6. NM_153824.3 → NP_722546.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_722546.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences, compared to variant 5. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 5. The encoded isoform (2) is shorter than isoform 5.
      Source sequence(s)
      AC145207, AF218000, AL561248, BC022244
      Consensus CDS
      CCDS11794.1
      UniProtKB/TrEMBL
      A0A1B2JLU7, E7D7X9, E7D7Y0
      Related
      ENSP00000336579.5, ENST00000337943.9
      Conserved Domains (3) summary
      PLN02688
      Location:1 → 268
      PLN02688; pyrroline-5-carboxylate reductase
      pfam03807
      Location:4 → 98
      F420_oxidored; NADP oxidoreductase coenzyme F420-dependent
      pfam14748
      Location:163 → 267
      P5CR_dimer; Pyrroline-5-carboxylate reductase dimerization

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81932391..81937300 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436497.1 → XP_047292453.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X3

      UniProtKB/TrEMBL
      J3QL32

    2. XM_005256381.3 → XP_005256438.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005256438.1

      UniProtKB/Swiss-Prot
      A6NFM2, B4DMU0, P32322, Q6FHI4, Q96DI6, Q9HBQ4
      UniProtKB/TrEMBL
      A0A1B2JLU7, E7D7X9, E7D7Y0
      Conserved Domains (1) summary
      PLN02688
      Location:1 → 268
      PLN02688; pyrroline-5-carboxylate reductase

    3. XM_011523584.4 → XP_011521886.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011521886.1

      UniProtKB/Swiss-Prot
      A6NFM2, B4DMU0, P32322, Q6FHI4, Q96DI6, Q9HBQ4
      UniProtKB/TrEMBL
      A0A1B2JLU7, E7D7X9, E7D7Y0
      Conserved Domains (1) summary
      PLN02688
      Location:1 → 268
      PLN02688; pyrroline-5-carboxylate reductase

    4. XM_047436498.1 → XP_047292454.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X3

      UniProtKB/TrEMBL
      J3QL32

    5. XM_024450849.2 → XP_024306617.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A6NFM2, B4DMU0, P32322, Q6FHI4, Q96DI6, Q9HBQ4
      UniProtKB/TrEMBL
      A0A1B2JLU7, E7D7X9, E7D7Y0
      Conserved Domains (1) summary
      PLN02688
      Location:1 → 268
      PLN02688; pyrroline-5-carboxylate reductase

    6. XM_011523585.3 → XP_011521887.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X2

      UniProtKB/TrEMBL
      J3QL24
      Conserved Domains (2) summary
      pfam03807
      Location:31 → 125
      F420_oxidored; NADP oxidoreductase coenzyme F420-dependent
      pfam14748
      Location:190 → 241
      P5CR_dimer; Pyrroline-5-carboxylate reductase dimerization

    7. XM_011523583.3 → XP_011521885.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011521885.1

      UniProtKB/Swiss-Prot
      A6NFM2, B4DMU0, P32322, Q6FHI4, Q96DI6, Q9HBQ4
      UniProtKB/TrEMBL
      A0A1B2JLU7, E7D7X9, E7D7Y0
      Conserved Domains (1) summary
      PLN02688
      Location:1 → 268
      PLN02688; pyrroline-5-carboxylate reductase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82799550..82804459 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316821.1 → XP_054172796.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X2

    2. XM_054316822.1 → XP_054172797.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X3

      UniProtKB/TrEMBL
      J3QL32

    3. XM_054316817.1 → XP_054172792.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A6NFM2, B4DMU0, P32322, Q6FHI4, Q96DI6, Q9HBQ4

    4. XM_054316823.1 → XP_054172798.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X3

      UniProtKB/TrEMBL
      J3QL32

    5. XM_054316820.1 → XP_054172795.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A6NFM2, B4DMU0, P32322, Q6FHI4, Q96DI6, Q9HBQ4

    6. XM_054316819.1 → XP_054172794.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A6NFM2, B4DMU0, P32322, Q6FHI4, Q96DI6, Q9HBQ4

    7. XM_054316818.1 → XP_054172793.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A6NFM2, B4DMU0, P32322, Q6FHI4, Q96DI6, Q9HBQ4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P32322.2 GenPept UniProtKB/Swiss-Prot:P32322

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