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    PRODH proline dehydrogenase 1 [ Homo sapiens (human) ]

    Gene ID: 5625, updated on 3-Apr-2024

    Summary

    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
    NEW
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    Genomic context

    See PRODH in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (18912781..18936553, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (19288173..19311947, complement)
    105.20220307 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

    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?

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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
     
    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

    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)

    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_008226.3 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001195226.2NP_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/Swiss-Prot
      A6NF53, O14680, O43272, Q0P507, Q147W8, Q504W1, Q59FI8, Q6NV86, Q9UF13
      UniProtKB/TrEMBL
      E7EQL6, X5D7N2
      Related
      ENSP00000334726.2, ENST00000334029.6
    2. NM_001368250.2NP_001355179.2  proline dehydrogenase 1, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC007326
      UniProtKB/TrEMBL
      E7EQL6
      Related
      ENSP00000410805.1, ENST00000420436.5
    3. NM_016335.6NP_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
      A6NF53, O14680, O43272, Q0P507, Q147W8, Q504W1, Q59FI8, Q6NV86, Q9UF13
      UniProtKB/TrEMBL
      A0A087WWM6, X5D7N2
      Related
      ENSP00000349577.6, ENST00000357068.11

    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_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)