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    PRODH proline dehydrogenase (oxidase) 1 [ Homo sapiens (human) ]

    Gene ID: 5625, updated on 4-Jul-2015
    Official Symbol
    PRODHprovided by HGNC
    Official Full Name
    proline dehydrogenase (oxidase) 1provided by HGNC
    Primary source
    HGNC:HGNC:9453
    See related
    Ensembl:ENSG00000100033; HPRD:08433; MIM:606810; Vega:OTTHUMG00000150163
    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]
    Orthologs
    See PRODH in Epigenomics, MapViewer
    Location:
    22q11.21
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (18912695..18936553, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (18900206..18924066, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100996432 Neighboring gene DiGeorge syndrome critical region gene 6 Neighboring gene DiGeorge syndrome critical region gene 5 (non-protein coding) Neighboring gene putative POM121-like protein 1 Neighboring gene DiGeorge syndrome critical region gene 9 (non-protein coding)

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    NHGRI GWA Catalog

    Markers

    Homology

    Clone Names

    • FLJ33744, MGC148078, MGC148079

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    FAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proline dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    4-hydroxyproline catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular nitrogen compound metabolic process TAS
    Traceable Author Statement
    more info
     
    intrinsic apoptotic signaling pathway in response to oxidative stress NAS
    Non-traceable Author Statement
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    proline catabolic process TAS
    Traceable Author Statement
    more info
     
    proline catabolic process to glutamate IEA
    Inferred from Electronic Annotation
    more info
     
    proline metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    proline dehydrogenase 1, mitochondrial
    Names
    p53-induced gene 6 protein
    proline oxidase 2
    proline oxidase, mitochondrial
    tumor protein p53 inducible protein 6
    NP_001182155.1
    NP_057419.4

    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_008226.2 RefSeqGene

      Range
      5001..28780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001182155.1

      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)
      BC036534, BC118597, BC121809, BU730461, CB216963
      Consensus CDS
      CCDS56223.1
      UniProtKB/Swiss-Prot
      O43272
      Related
      ENSP00000334726, OTTHUMP00000196496, ENST00000334029, OTTHUMT00000316638
      Conserved Domains (2) summary
      PLN02681
      Location:1470
      PLN02681; proline dehydrogenase
      pfam01619
      Location:166470
      Pro_dh; Proline dehydrogenase
    2. NM_016335.4NP_057419.4  proline dehydrogenase 1, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC036534, BC118597, BC121809, BU730461, CB216963, CN362765, U79754
      Consensus CDS
      CCDS13754.1
      UniProtKB/Swiss-Prot
      O43272
      Related
      ENSP00000480347, ENST00000610940
      Conserved Domains (2) summary
      PLN02681
      Location:31578
      PLN02681; proline dehydrogenase
      pfam01619
      Location:274578
      Pro_dh; Proline dehydrogenase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

      Range
      18912695..18936553
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530278.1XP_011528580.1  

      Conserved Domains (1) summary
      pfam01619
      Location:83387
      Pro_dh; Proline dehydrogenase
    2. XM_011530279.1XP_011528581.1  

      Conserved Domains (1) summary
      pfam01619
      Location:14318
      Pro_dh; Proline dehydrogenase

    RNA

    1. XR_937876.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      18900046..18923816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)