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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRODH Gene

protein-coding   GIFtS: 69
GCID: GC22M018900

Proline Dehydrogenase (Oxidase) 1

(Previous name: proline dehydrogenase (proline oxidase ))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Proline Dehydrogenase (Oxidase) 11 2     PRODH12
Proline Oxidase 22 3     TP53I62
PIG62 3     Proline Dehydrogenase 1, Mitochondrial2
P53-Induced Gene 6 Protein2 3     Proline Oxidase, Mitochondrial2
EC 1.5.99.83 8     Tumor Protein P53 Inducible Protein 62
PRODH22 5     POX23
Proline Dehydrogenase (Proline Oxidase )1     Proline Oxidase3
HSPOX22     SCZD45
POX2     

External Ids:    HGNC: 94531   Entrez Gene: 56252   Ensembl: ENSG000001000337   OMIM: 6068105   UniProtKB: O432723   

Export aliases for PRODH gene to outside databases

Previous GC identifers: GC22M015840 GC22M017274 GC22M002522


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRODH Gene:
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)

GeneCards Summary for PRODH Gene: 
PRODH (proline dehydrogenase (oxidase) 1) is a protein-coding gene. Diseases associated with PRODH include schizophrenia, and hyperprolinemia, and among its related super-pathways are Metabolic pathways and proline degradation. GO annotations related to this gene include proline dehydrogenase activity and FAD binding. An important paralog of this gene is PRODH2.

UniProtKB/Swiss-Prot: PROD_HUMAN, O43272
Function: Converts proline to delta-1-pyrroline-5-carboxylate

Gene Wiki entry for PRODH (Proline oxidase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011519.10  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRODH gene promoter:
         COUP-TF1   RFX1   COUP   HNF-4alpha2   HNF-4alpha1   CREB   COUP-TF   deltaCREB   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PRODH promoter sequence
   Search SABiosciences Chromatin IP Primers for PRODH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRODH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.2

PRODH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRODH gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M018900:  view genomic region     (about GC identifiers)

Start:
18,900,287 bp from pter      End:
18,924,066 bp from pter
Size:
23,780 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PROD_HUMAN, O43272 (See protein sequence)
Recommended Name: Proline dehydrogenase 1, mitochondrial precursor  
Size: 600 amino acids; 68002 Da
Cofactor: FAD
Subcellular location: Mitochondrion matrix
Sequence caution: Sequence=AAC39529.1; Type=Frameshift; Positions=540, 563, 568, 577, 580, 582;
Sequence=AAH68260.1; Type=Frameshift; Positions=123; Sequence=AAH94736.1; Type=Frameshift; Positions=40;
Sequence=AAH94736.1; Type=Miscellaneous discrepancy; Note=Artifact. Missing internal sequence that doesn't
correspond to an exon-intron boundary; Sequence=BAD92709.1; Type=Miscellaneous discrepancy; Note=Intron
retention. Includes intronic sequence at the 5' end;
Secondary accessions: A6NF53 O14680 Q0P507 Q147W8 Q504W1 Q59FI8 Q6NV86 Q9UF13
Alternative splicing: 3 isoforms:  O43272-4   O43272-2   O43272-1   

Explore the universe of human proteins at neXtProt for PRODH: NX_O43272

Explore proteomics data for PRODH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43272

  • 4 DME Specific Peptides for PRODH (O43272)
     MVASHNE  KLVRGAY  GHFVAGE  FGQLLGMCD 

    PRODH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRODH Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001182155.1  NP_057419.4  

    ENSEMBL proteins: 
     ENSP00000410805   ENSP00000334726   ENSP00000349577   ENSP00000409742   ENSP00000396806  
     ENSP00000413941  
    Reactome Protein details: O43272
    Human Recombinant Protein Products for PRODH: 
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    Novus Biologicals PRODH Protein
    Novus Biologicals PRODH Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PRODH 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005759mitochondrial matrix IEA--

    PRODH for ontologies           About GeneDecksing



    PRODH Antibody Products: 
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    Cloud-Clone Corp. CLIAs for PRODH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR015659 Proline_oxidase
     IPR002872 Proline_DH

    Graphical View of Domain Structure for InterPro Entry O43272

    ProtoNet protein and cluster: O43272

    1 Blocks protein domain: IPB002872 Proline dehydrogenase

    UniProtKB/Swiss-Prot: PROD_HUMAN, O43272
    Similarity: Belongs to the proline oxidase family


    PRODH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PROD_HUMAN, O43272
    Function: Converts proline to delta-1-pyrroline-5-carboxylate
    Catalytic activity: L-proline + acceptor = (S)-1-pyrroline-5-carboxylate + reduced acceptor
    Induction: During p53/TP53-induced apoptosis

         Genatlas biochemistry entry for PRODH:
    proline dehydrogenase,Drosophila sluggish-A homolog,predominantly expressed in lung,skeletal
    muscle,brain,heart,kidney,proline metabolic pathway,mitochondrial matrix,involved putatively in any psychiatric
    disorders

         Enzyme Number (IUBMB): EC 1.5.99.81 2

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004657proline dehydrogenase activity IDA15662599
    GO:0071949FAD binding IDA15662599
         
    PRODH for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Prodh):
     behavior/neurological  growth/size  homeostasis/metabolism  nervous system 

    PRODH for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PRODH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PRODH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRODH 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRODH 

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    miRTarBase miRNAs that target PRODH:
    hsa-mir-23b (MIRT004581)

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate PRODH:
    hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidPRODH 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRODH


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PRODH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2proline degradation
    Proline catabolism0.50
    3Arginine and proline metabolism
    Arginine and proline metabolism0.35
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for PRODH
        Proline catabolism
    Metabolism
    Metabolism of amino acids and derivatives


    2         Kegg Pathways  (Kegg details for PRODH):
        Arginine and proline metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PROD_HUMAN, O43272
    Pathway: Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 1/2


    PRODH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRODH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/21 Interacting proteins for PRODH (O432723 ENSP000003495774) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CACTINQ8WUQ73I2D: score=4 
    DENND6BQ8NEG73I2D: score=4 
    EEF1B2P245343I2D: score=4 
    EIF5AP632413I2D: score=4 
    TRAM1Q156293I2D: score=4 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006537glutamate biosynthetic process IEA--
    GO:0006560proline metabolic process TAS9385373
    GO:0006562proline catabolic process TAS--
    GO:0008631intrinsic apoptotic signaling pathway in response to oxidative stress NAS9305847
    GO:0010133proline catabolic process to glutamate IEA--

    PRODH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PRODH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRODH (PROD)

    9 HMDB Compounds for PRODH    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Pyrroline-5-carboxylic acid(S)-1-pyrroline-5-carboxylate (see all 16)2906-39-0--
    4-Hydroxy-L-glutamic acid4-hydroxy-L-glutamate (see all 7)2485-33-8--
    4-Hydroxy-L-prolineL-4-hydroxy-proline (see all 11)30724-02-8--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    L-4-Hydroxyglutamate semialdehyde ----
    L-Proline(-)-(S)-Proline (see all 16)147-85-3--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for PRODH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Proline(-)-2-Pyrrolidinecarboxylic acid (see all 6)147-85-3target--17536821 17344208 16511143
    enzymesubstrate17536821 17344208 16511143 20415579 18401543

    6 Novoseek inferred chemical compound relationships for PRODH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    delta(1)pyrroline-5-carboxylate 93.7 17 18806117 (1), 8473341 (1), 19140736 (1), 20403182 (1) (see all 9)
    proline 87.2 139 16094254 (6), 20403182 (5), 17135275 (3), 18197084 (3) (see all 44)
    hydroxyproline 48 2 19140736 (1)
    abscisic acid 37.4 3 17318317 (1)
    glutamate 37 3 20403182 (1), 9847097 (1), 17344208 (1)
    tyrosine 5.2 2 19140736 (1)

    Search CenterWatch for drugs/clinical trials and news about PRODH / PROD

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PRODH gene (2 alternative transcripts): 
    NM_001195226.1  NM_016335.4  

    Unigene Cluster for PRODH:

    Proline dehydrogenase (oxidase) 1
    Hs.517352  [show with all ESTs]
    Unigene Representative Sequence: AB209472
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000491604 ENST00000420436(uc002zoj.4) ENST00000313755 ENST00000429300
    ENST00000482858 ENST00000334029 ENST00000357068(uc002zok.4 uc002zol.4)
    ENST00000446371 ENST00000438924 ENST00000399694 ENST00000450579 ENST00000457083
    ENST00000496625
    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate PRODH:
    hsa-miR-4257
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB209472.1 AK001359.1 AK091063.1 BC036534.1 BC068260.1 BC094736.1 BC118597.1 BC121809.1 
    U79754.1 

    13 DOTS entries:

    DT.100786983  DT.40304057  DT.120674956  DT.100024640  DT.97808873  DT.95365020  DT.92423385  DT.97842554 
    DT.92423380  DT.97842556  DT.120674953  DT.91804652  DT.97842555 

    24/97 AceView cDNA sequences (see all 97):

    AW449360 AW196957 CB216963 H55548 BU730461 NM_016335 T16831 BX481692 
    AI952835 AX746760 CA439742 BM726222 BV196185 BM929704 BU732414 BM671631 
    CB153617 BV197306 BI602093 BI756383 BX281261 BQ637735 BM926123 BM976719 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for PRODH (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                                                  -     -                                   -                                             
    SP2:                    -                 -           -     -                                                                                 
    SP3:                                      -           -     -                                                                                 
    SP4:        -     -                       -           -     -                                                                                 
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for PRODH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRODH expression in normal human tissues (normalized intensities)      PRODH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTTGGACC
    PRODH Expression
    About this image


    PRODH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/34 selected tissues (see all 34) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Thalamus
             Olfactory Bulb   
     
     Epithelium
             vagina ; squamous epithelial cells   
             bronchial epithelia   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Breast
             breast ; myoepithelial cells   

    See PRODH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRODH

    SOURCE GeneReport for Unigene cluster: Hs.517352

    UniProtKB/Swiss-Prot: PROD_HUMAN, O43272
    Tissue specificity: Expressed in lung, skeletal muscle and brain, to a lesser extent in heart and kidney, and
    weakly in liver, placenta and pancreas

        SABiosciences Expression via Pathway-Focused PCR Arrays including PRODH: 
              GABA & Glutamate in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Apoptosis 384HT in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PRODH gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prodh1 , 5 proline dehydrogenase1, 5 82.47(n)1
    81.97(a)1
      16 (11.19 cM)5
    191251  NM_011172.21  NP_035302.21 
     180603575 
    chicken
    (Gallus gallus)
    Aves PRODH1 proline dehydrogenase (oxidase) 1 77.32(n)
    74.94(a)
      770734  XM_001234061.2  XP_001234062.2 
    lizard
    (Anolis carolinensis)
    Reptilia PRODH6
    proline dehydrogenase (oxidase) 1
    67(a)
    1 ↔ 1
    GL343417.1(748458-758648)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.124602 Transcribed sequence with moderate similarity to protein more 77.83(n)    BG303940.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta slgA1 , 3 glutamine biosynthesis proline
    dehydrogenase3
    sluggish A1
    47(a)3
    56.11(n)1
    49.23(a)1
      331171  NM_206805.21  NP_996528.11 
    worm
    (Caenorhabditis elegans)
    Secernentea B0513.53
    CELE_B0513.51
    Protein B0513.51 45(a)3
    51.43(n)1
    47.39(a)1
      IV(13868957-13874501)3
    1783501  NM_070268.31  NP_502669.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PUT1(YLR142W)4 Proline oxidase, nuclear-encoded mitochondrial protein more   --   12(425186-426616) 850833  NP_013243.1 


    ENSEMBL Gene Tree for PRODH (if available)
    TreeFam Gene Tree for PRODH (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRODH gene
    PRODH22  
    1 SIMAP similar gene for PRODH using alignment to 5 protein entries:     PROD_HUMAN (see all proteins):
    PRODH2

    PRODH for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PRODH
    PGOHUM00000246409 PGOHUM00000237890


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/854 SNPs in PRODH are shown (see all 854)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365664
    A breast cancer sample4--see VAR_0365662 N S mis40--------
    rs29045511,2,4
    C,FHyperprolinemia 1 (HP-1)4 pathogenic12849125(+) GCACCA/GGCTTG 4 P L mis1 ese33Minor allele frequency- G:0.01NA EU 5519
    rs4500461,2,4
    C,F,Hpathogenic12844198(+) ACACCT/CGGTGG 4 /Q /R mis1 ese330Minor allele frequency- C:0.10MN NS EA NA WA CSA EU 7107
    rs28709841,2,4
    C,Fpathogenic12849050(+) CGTACG/ATGGGG 4 /T /M mis1 ese32Minor allele frequency- A:0.00NA EU 5789
    rs18074671,2,4
    C,Fpathogenic12849084(-) GTGCGG/TCAGAG 4 A S mis1 ese33Minor allele frequency- T:0.00NA EU 5755
    rs39705591,2,4
    C,F,Apathogenic12849090(+) CGCACG/AGGCTC 4 /R /C mis1 ese32Minor allele frequency- A:0.01NA EU 5689
    rs29045521,2,4
    C,Fpathogenic12849155(+) CACGGC/TGAGCC 4 H R mis1 ese36Minor allele frequency- T:0.07NA EU 5379
    rs1378529341,2
    C,Fpathogenic12853095(-) CAAAGT/ATGGGC 4 /M /L mis12Minor allele frequency- A:0.00NA EU 5847
    VAR_0648854
    ----see VAR_0648852 P S mis40--------
    VAR_0298744
    ----see VAR_0298742 T N mis40--------

    HapMap Linkage Disequilibrium report for PRODH (18900287 - 18924066 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/40 variations for PRODH (see all 40):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv435744CNV Deletion17901297
    dgv4827n71CNV Loss21882294
    dgv4832n71CNV Loss21882294
    dgv4833n71CNV Loss21882294
    nsv914227CNV Loss21882294
    nsv914244CNV Loss21882294
    dgv4826n71CNV Loss21882294
    nsv459336CNV Loss19166990
    nsv471180CNV Loss18288195
    nsv914226CNV Loss21882294


    Human Gene Mutation Database (HGMD): PRODH
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606810   
    OMIM disorders: 239500  600850  
    UniProtKB/Swiss-Prot: PROD_HUMAN, O43272
  • Hyperprolinemia 1 (HP-1) [MIM:239500]: Characterized by elevated serum proline levels. May be involved in
    the psychiatric and behavioral phenotypes associated with the 22q11 velocardiofacial and DiGeorge syndrome.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Schizophrenia 4 (SCZD4) [MIM:600850]: A complex, multifactorial psychotic disorder or group of disorders
    characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g.
    inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries,
    withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it
    is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild
    impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive
    function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are
    often given the diagnosis of schizoaffective disorder. Note=Disease susceptibility is associated with variations
    affecting the gene represented in this entry

  • 20/21 diseases for PRODH (see all 21):    About MalaCards
    schizophrenia    hyperprolinemia    schizophrenia 4    psychotic disorder
    contagious pustular dermatitis    childhood-onset schizophrenia    monkeypox    smallpox
    schizoaffective disorder    velocardiofacial syndrome    primary hyperoxaluria    digeorge syndrome
    bipolar disorder    vaccinia    mood disorder    dermatitis
    dementia    mental retardation    colorectal cancer    lung cancer

    6 diseases from the University of Copenhagen DISEASES database for PRODH:
    Velocardiofacial syndrome     Schizophrenia     Primary hyperoxaluria     DiGeorge syndrome
    Smallpox     Schizoaffective disorder

    PRODH for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for PRODH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperprolinemia, type i 97.2 5 12217952 (1), 17135275 (1), 18197084 (1)
    hyperprolinemia 96.1 13 12217952 (3), 15494707 (3), 17135275 (1), 16389584 (1)
    velocardiofacial syndrome 74.8 1 17412540 (1)
    digeorge syndrome 74.7 3 19420922 (1), 15494707 (1)
    schizophrenia 66.1 44 15274030 (5), 14618678 (5), 17504246 (5), 16094254 (4) (see all 14)
    schizoaffective disorder 62.9 4 17504246 (1), 16389584 (1), 15494707 (1)
    bipolar disorder 47.6 11 16094254 (4), 14618678 (2), 16389584 (1), 15494707 (1)
    psychotic 12.9 2 14618678 (1), 15494707 (1)

    Genetic Association Database (GAD): PRODH
    Human Genome Epidemiology (HuGE) Navigator: PRODH (20 documents)

    Export disorders for PRODH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PRODH gene, integrated from 9 sources (see all 102):
    (articles sorted by number of sources associating them with PRODH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. (PubMed id 12217952)1, 2, 4, 9 Jacquet H.... Frebourg T. (2002)
    2. The gene encoding proline dehydrogenase modulates sensorimotor gating in mice. (PubMed id 10192398)1, 2, 3, 9 Gogos J.A.... Karayiorgou M. (1999)
    3. Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. (PubMed id 11891283)1, 2, 4, 9 Liu H....Karayiorgou M. (2002)
    4. A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia. (PubMed id 9385373)1, 2, 3 Campbell H.D.... Young I.G. (1997)
    5. Genetic variation in COMT and PRODH is associated with brain anatomy in patients with schizophrenia. (PubMed id 17504246)1, 4, 9 Zinkstok J....Linszen D. (2008)
    6. No evidence for an association between variants at the proline dehydrogenase locus and schizophrenia or bipolar affective disorder. (PubMed id 16094254)1, 4, 9 Abou Jamra R....Cichon S. (2005)
    7. Detailed analysis of PRODH and PsPRODH reveals no association with schizophrenia. (PubMed id 12815738)1, 4, 9 Williams H.J....O'Donovan M.C. (2003)
    8. Analysis of ProDH, COMT and ZDHHC8 risk variants does not support individual or interactive effects on schizophrenia susceptibility. (PubMed id 16860541)1, 4, 9 Glaser B....O'Donovan M.C. (2006)
    9. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. (PubMed id 17135275)1, 2, 9 Raux G....Campion D. (2007)
    10. Association study of the G-protein signaling 4 (RGS4) and proline dehydrogenase (PRODH) genes with schizophrenia: a meta-analysis. (PubMed id 16791139)1, 4, 9 Li D. and He L. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5625 HGNC: 9453 AceView: PRODH Ensembl:ENSG00000100033 euGenes: HUgn5625
    ECgene: PRODH Kegg: 5625 H-InvDB: PRODH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRODH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PRODH Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRODH

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PRODH gene:
    Search GeneIP for patents involving PRODH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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