U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 5831, updated on 7-Apr-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
17q25.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81932391..81937300, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82799550..82804459, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Cancer-associated fibroblasts require proline synthesis by PYCR1 for the deposition of pro-tumorigenic extracellular matrix. Kay EJ, et al. Nat Metab, 2022 Jun. PMID 35760868, Free PMC Article
  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. PYCR1 promotes bladder cancer by affecting the Akt/Wnt/β-catenin signaling. Du S, et al. J Bioenerg Biomembr, 2021 Apr. PMID 33689096
  4. Knockdown of PYCR1 inhibits proliferation, drug resistance and EMT in colorectal cancer cells by regulating STAT3-Mediated p38 MAPK and NF-κB signalling pathway. Yan K, et al. Biochem Biophys Res Commun, 2019 Dec 3. PMID 31606203
  5. Pyrroline-5-Carboxylate Reductase 1 Accelerates the Migration and Invasion of Nonsmall Cell Lung Cancer In Vitro. Sang S, et al. Cancer Biother Radiopharm, 2019 Aug. PMID 30916574

See all (132) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Deciphering the effects of PYCR1 on cell function and its associated mechanism in hepatocellular carcinoma.
    Title: Deciphering the effects of PYCR1 on cell function and its associated mechanism in hepatocellular carcinoma.
  10. Proline synthesis through PYCR1 is required to support cancer cell proliferation and survival in oxygen-limiting conditions.
    Title: Proline synthesis through PYCR1 is required to support cancer cell proliferation and survival in oxygen-limiting conditions.
Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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_2023_10

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

Gene LinkOut

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

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous