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

    Gene ID: 5831, updated on 9-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PYCR1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    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_001282279.2NP_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:1237
      P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation
    2. NM_001282280.2NP_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:1268
      PLN02688; pyrroline-5-carboxylate reductase
    3. NM_001282281.2NP_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:28295
      P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation
    4. NM_001330523.2NP_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:1214
      PLN02688; pyrroline-5-carboxylate reductase
    5. NM_006907.4NP_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:1268
      PLN02688; pyrroline-5-carboxylate reductase
    6. NM_153824.3NP_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:1268
      PLN02688; pyrroline-5-carboxylate reductase
      pfam03807
      Location:498
      F420_oxidored; NADP oxidoreductase coenzyme F420-dependent
      pfam14748
      Location:163267
      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_047436497.1XP_047292453.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X3

      UniProtKB/TrEMBL
      J3QL24, J3QL32
    2. XM_005256381.3XP_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:1268
      PLN02688; pyrroline-5-carboxylate reductase
    3. XM_011523584.4XP_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:1268
      PLN02688; pyrroline-5-carboxylate reductase
    4. XM_047436498.1XP_047292454.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X3

      UniProtKB/TrEMBL
      J3QL24, J3QL32
    5. XM_024450849.2XP_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:1268
      PLN02688; pyrroline-5-carboxylate reductase
    6. XM_011523585.3XP_011521887.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X2

      UniProtKB/TrEMBL
      J3QL24
      Conserved Domains (2) summary
      pfam03807
      Location:31125
      F420_oxidored; NADP oxidoreductase coenzyme F420-dependent
      pfam14748
      Location:190241
      P5CR_dimer; Pyrroline-5-carboxylate reductase dimerization
    7. XM_011523583.3XP_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:1268
      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_054316821.1XP_054172796.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X2

      UniProtKB/TrEMBL
      J3QL24
    2. XM_054316822.1XP_054172797.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X3

      UniProtKB/TrEMBL
      J3QL24, J3QL32
    3. XM_054316817.1XP_054172792.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A6NFM2, B4DMU0, P32322, Q6FHI4, Q96DI6, Q9HBQ4
      UniProtKB/TrEMBL
      A0A1B2JLU7, E7D7X9, E7D7Y0
    4. XM_054316823.1XP_054172798.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X3

      UniProtKB/TrEMBL
      J3QL24, J3QL32
    5. XM_054316820.1XP_054172795.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A6NFM2, B4DMU0, P32322, Q6FHI4, Q96DI6, Q9HBQ4
      UniProtKB/TrEMBL
      A0A1B2JLU7, E7D7X9, E7D7Y0
    6. XM_054316819.1XP_054172794.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A6NFM2, B4DMU0, P32322, Q6FHI4, Q96DI6, Q9HBQ4
      UniProtKB/TrEMBL
      A0A1B2JLU7, E7D7X9, E7D7Y0
    7. XM_054316818.1XP_054172793.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A6NFM2, B4DMU0, P32322, Q6FHI4, Q96DI6, Q9HBQ4
      UniProtKB/TrEMBL
      A0A1B2JLU7, E7D7X9, E7D7Y0