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    PRODH proline dehydrogenase 1 [ Homo sapiens (human) ]

    Gene ID: 5625, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PRODHprovided by HGNC
    Official Full Name
    proline dehydrogenase 1provided by HGNC
    Primary source
    HGNC:HGNC:9453
    See related
    Ensembl:ENSG00000100033 MIM:606810; AllianceGenome:HGNC:9453
    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
    POX; PIG6; HSPOX2; PRODH1; PRODH2; TP53I6
    Summary
    This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
    Expression
    Biased expression in small intestine (RPKM 24.9), skin (RPKM 13.7) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRODH in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (18912781..18936553, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (19288173..19311947, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (18900294..18924066, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 230 member F Neighboring gene OCT4 hESC enhancer GRCh37_chr22:18883553-18884054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18890927-18891786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18891787-18892644 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18892762-18893300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18893301-18893838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18893839-18894376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18895933-18896636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18896637-18897339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18897340-18898042 Neighboring gene DiGeorge syndrome critical region gene 6 Neighboring gene uncharacterized LOC122455341 Neighboring gene human-specific endogenous retroviral insert PRODH enhancer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18934751-18935496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18945292-18945809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18957062-18957893 Neighboring gene DiGeorge syndrome critical region gene 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:18985578-18985746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19005353-19005854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19007165-19007664 Neighboring gene family with sequence similarity 246 member C (gene/pseudogene)

    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 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. No evidence for an association between variants at the proline dehydrogenase locus and schizophrenia or bipolar affective disorder. Abou Jamra R, et al. Psychiatr Genet, 2005 Sep. PMID 16094254
    2. Identification of PRODH mutations in Korean neonates with type I hyperprolinemia. Jang MA, et al. Ann Clin Lab Sci, 2013 Winter. PMID 23462603
    3. Proline dehydrogenase is essential for proline protection against hydrogen peroxide-induced cell death. Natarajan SK, et al. Free Radic Biol Med, 2012 Sep 1. PMID 22796327, Free PMC Article
    4. Lack of association between proline dehydrogenase (oxidase) 1 polymorphisms and schizophrenia in a Korean population. Kim JH, et al. Psychiatr Genet, 2012 Jun. PMID 21960278
    5. Type I hyperprolinemia: genotype/phenotype correlations. Guilmatre A, et al. Hum Mutat, 2010 Aug. PMID 20524212

    See all (94) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Proline Dehydrogenase (PRODH) Is Expressed in Lung Adenocarcinoma and Modulates Cell Survival and 3D Growth by Inducing Cellular Senescence.
      Title: Proline Dehydrogenase (PRODH) Is Expressed in Lung Adenocarcinoma and Modulates Cell Survival and 3D Growth by Inducing Cellular Senescence.
    2. Prognostic and immunomodulatory roles of schizophrenia-associated genes HTR2A, COMT, and PRODH in pan-cancer analysis and glioma survival prediction model.
      Title: Prognostic and immunomodulatory roles of schizophrenia-associated genes HTR2A, COMT, and PRODH in pan-cancer analysis and glioma survival prediction model.
    3. Impact of COMT, PRODH and DISC1 Genetic Variants on Cognitive Performance of Patients with Schizophrenia.
      Title: Impact of COMT, PRODH and DISC1 Genetic Variants on Cognitive Performance of Patients with Schizophrenia.
    4. Metformin Treatment or PRODH/POX-Knock out Similarly Induces Apoptosis by Reprograming of Amino Acid Metabolism, TCA, Urea Cycle and Pentose Phosphate Pathway in MCF-7 Breast Cancer Cells.
      Title: Metformin Treatment or PRODH/POX-Knock out Similarly Induces Apoptosis by Reprograming of Amino Acid Metabolism, TCA, Urea Cycle and Pentose Phosphate Pathway in MCF-7 Breast Cancer Cells.
    5. Understanding the role of key amino acids in regulation of proline dehydrogenase/proline oxidase (prodh/pox)-dependent apoptosis/autophagy as an approach to targeted cancer therapy.
      Title: Understanding the role of key amino acids in regulation of proline dehydrogenase/proline oxidase (prodh/pox)-dependent apoptosis/autophagy as an approach to targeted cancer therapy.
    6. Proline Dehydrogenase (PRODH) expression is reduced in human with Heart Failure. PRODH appears to be crucial to sustain normal mitochondrial function and maintenance of ATP levels in human cardiomyocytes in a hypoxic environment, as well as for redox homeostasis in both normoxic and hypoxic conditions.
      Title: Exercise Reveals Proline Dehydrogenase as a Potential Target in Heart Failure.
    7. PRODH1-mediated proline metabolism promotes pancreatic ductal adenocarcinoma growth.
      Title: Collagen-derived proline promotes pancreatic ductal adenocarcinoma cell survival under nutrient limited conditions.
    8. Here, we show that Prodh-deficient mice with elevated CNS L-proline display specific deficits in high-frequency GABA-ergic transmission and gamma-band oscillations. We find that L-proline is a GABA-mimetic and can act at multiple GABA-ergic targets
      Title: Cytosolic Accumulation of L-Proline Disrupts GABA-Ergic Transmission through GAD Blockade.
    9. PRODH/POX knockdown decreased DNA and collagen biosynthesis, whereas increased prolidase activity and intracellular proline level in MCF-7shPRODH/POX cells.
      Title: Functional Consequences of Intracellular Proline Levels Manipulation Affecting PRODH/POX-Dependent Pro-Apoptotic Pathways in a Novel in Vitro Cell Culture Model.
    10. this study shows that PRODH plays a causative role in DNA damage-induced senescence through the enzymatic generation of reactive oxygen species
      Title: Proline dehydrogenase promotes senescence through the generation of reactive oxygen species.
    Submit: New GeneRIF Correction See all GeneRIFs (56)

    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
    Proline dehydrogenase deficiency
    MedGen: C0268529 OMIM: 239500 GeneReviews: Not available
    		Compare labs
    Schizophrenia 4
    MedGen: C1833247 OMIM: 600850 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    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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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 Env gp120 upregulates the mitochondrial redox enzyme PRODH (POX) PubMed
    env HIV-1 Env gp120 induces PRODH (POX) that elicits reactive oxygen species (ROS)-mediated neuronal autophagy 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

    • FLJ10497, FLJ33744, MGC148078, MGC148079

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables FAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables FAD binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables proline dehydrogenase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables proline dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables proline dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 4-hydroxyproline catabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in intrinsic apoptotic signaling pathway in response to oxidative stress NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proline catabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in proline catabolic process to glutamate IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proline catabolic process to glutamate IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proline metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    proline dehydrogenase 1, mitochondrial
    Names
    p53 Inducible gene 6
    p53-induced gene 6 protein
    proline dehydrogenase (oxidase) 1
    proline oxidase 2
    proline oxidase, mitochondrial
    tumor protein p53 inducible protein 6
    NP_001182155.2
    NP_001355179.2
    NP_057419.5

    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_008226.3 RefSeqGene

      Range
      5261..28773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195226.2 → NP_001182155.2  proline dehydrogenase 1, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing an internal exon at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG and an isoform (2) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC007326
      Consensus CDS
      CCDS56223.1
      UniProtKB/TrEMBL
      A0AAG2SZT6, E7EQL6
      Related
      ENSP00000334726.2, ENST00000334029.6

    2. NM_001368250.2 → NP_001355179.2  proline dehydrogenase 1, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC007326
      UniProtKB/TrEMBL
      E7EQL6
      Related
      ENSP00000410805.1, ENST00000420436.5

    3. NM_016335.6 → NP_057419.5  proline dehydrogenase 1, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC007326
      Consensus CDS
      CCDS13754.1
      UniProtKB/Swiss-Prot
      A0A087WWM6, A6NF53, O14680, O43272, Q0P507, Q147W8, Q504W1, Q59FI8, Q6NV86, Q9UF13
      UniProtKB/TrEMBL
      A0AAG2SXN7
      Related
      ENSP00000349577.6, ENST00000357068.11

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      18912781..18936553 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      19288173..19311947 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43272.4 GenPept UniProtKB/Swiss-Prot:O43272

    Gene LinkOut

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

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