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Aliases for PRODH Gene

Aliases for PRODH Gene

  • Proline Dehydrogenase 1 2 3
  • Proline Dehydrogenase (Oxidase) 1 3 5
  • P53-Induced Gene 6 Protein 3 4
  • Proline Oxidase 2 3 4
  • Proline Oxidase 2 4
  • PIG6 3 4
  • Proline Dehydrogenase (Proline Oxidase ) 2
  • Tumor Protein P53 Inducible Protein 6 3
  • Proline Oxidase, Mitochondrial 3
  • EC 1.5.99.8 63
  • EC 1.5.5.2 4
  • HSPOX2 3
  • PRODH1 3
  • PRODH2 3
  • TP53I6 3
  • POX2 4
  • POX 3

External Ids for PRODH Gene

Previous GeneCards Identifiers for PRODH Gene

  • GC22M015840
  • GC22M017274
  • GC22M002522

Summaries for PRODH Gene

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 1) is a Protein Coding gene. Diseases associated with PRODH include schizophrenia 4 and hyperprolinemia, type i. Among its related pathways are Arginine and proline metabolism and Metabolism. GO annotations related to this gene include FAD binding and proline dehydrogenase activity. An important paralog of this gene is PRODH2.

UniProtKB/Swiss-Prot for PRODH Gene

  • Converts proline to delta-1-pyrroline-5-carboxylate.

Gene Wiki entry for PRODH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRODH Gene

Genomics for PRODH Gene

Regulatory Elements for PRODH Gene

Enhancers for PRODH Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRODH on UCSC Golden Path with GeneCards custom track

Promoters for PRODH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PRODH on UCSC Golden Path with GeneCards custom track

Genomic Location for PRODH Gene

Chromosome:
22
Start:
18,912,695 bp from pter
End:
18,936,553 bp from pter
Size:
23,859 bases
Orientation:
Minus strand

Genomic View for PRODH Gene

Genes around PRODH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRODH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRODH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRODH Gene

Proteins for PRODH Gene

  • Protein details for PRODH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43272-PROD_HUMAN
    Recommended name:
    Proline dehydrogenase 1, mitochondrial
    Protein Accession:
    O43272
    Secondary Accessions:
    • A6NF53
    • O14680
    • Q0P507
    • Q147W8
    • Q504W1
    • Q59FI8
    • Q6NV86
    • Q9UF13

    Protein attributes for PRODH Gene

    Size:
    600 amino acids
    Molecular mass:
    68002 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC39529.1; Type=Frameshift; Positions=540, 563, 568, 577, 580, 582; Evidence={ECO:0000305}; Sequence=AAH68260.1; Type=Frameshift; Positions=123; Evidence={ECO:0000305}; Sequence=AAH94736.1; Type=Frameshift; Positions=40; Evidence={ECO:0000305}; Sequence=AAH94736.1; Type=Miscellaneous discrepancy; Note=Artifact. Missing internal sequence that doesnt correspond to an exon-intron boundary.; Evidence={ECO:0000305}; Sequence=BAD92709.1; Type=Miscellaneous discrepancy; Note=Intron retention. Includes intronic sequence at the 5 end.; Evidence={ECO:0000305};

    Alternative splice isoforms for PRODH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRODH Gene

Proteomics data for PRODH Gene at MOPED

Selected DME Specific Peptides for PRODH Gene

Post-translational modifications for PRODH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for PRODH Gene

Protein Domains for PRODH Gene

Suggested Antigen Peptide Sequences for PRODH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43272

UniProtKB/Swiss-Prot:

PROD_HUMAN :
  • Belongs to the proline oxidase family.
Family:
  • Belongs to the proline oxidase family.
genes like me logo Genes that share domains with PRODH: view

No data available for Gene Families for PRODH Gene

Function for PRODH Gene

Molecular function for PRODH Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
L-proline + a quinone = (S)-1-pyrroline-5-carboxylate + a quinol.
UniProtKB/Swiss-Prot Function:
Converts proline to delta-1-pyrroline-5-carboxylate.
UniProtKB/Swiss-Prot Induction:
During p53/TP53-induced apoptosis.

Enzyme Numbers (IUBMB) for PRODH Gene

genes like me logo Genes that share phenotypes with PRODH: view

Human Phenotype Ontology for PRODH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRODH Gene

MGI Knock Outs for PRODH:

Animal Model Products

miRNA for PRODH Gene

miRTarBase miRNAs that target PRODH

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PRODH Gene

Localization for PRODH Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRODH Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRODH Gene COMPARTMENTS Subcellular localization image for PRODH gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 2
peroxisome 2
chloroplast 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for PRODH Gene

Pathways & Interactions for PRODH Gene

genes like me logo Genes that share pathways with PRODH: view

UniProtKB/Swiss-Prot O43272-PROD_HUMAN

  • Pathway: Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 1/2.

Gene Ontology (GO) - Biological Process for PRODH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010133 proline catabolic process to glutamate IEA --
GO:0019470 4-hydroxyproline catabolic process TAS 21998747
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with PRODH: view

No data available for SIGNOR curated interactions for PRODH Gene

Drugs & Compounds for PRODH Gene

(7) Drugs for PRODH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Proline Approved Nutra Target, Enzyme, substrate 0
FAD Approved Pharma 0
NAD Pharma Full agonist, Agonist 0
NADH Nutra 0

(9) Additional Compounds for PRODH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Pyrroline-5-carboxylic acid
  • (S)-1-pyrroline-5-carboxylate
  • 1-Pyrroline-5-carboxylate
  • 1-Pyrroline-5-carboxylic acid
  • 3,4-Dihydro-2h-pyrrole-2-carboxylate
  • 3,4-Dihydro-2h-pyrrole-2-carboxylic acid
2906-39-0
4-Hydroxy-L-glutamic acid
  • (2S)-2-amino-4-hydroxypentanedioate
  • (2S)-2-amino-4-hydroxypentanedioic acid
  • 4-Hydroxy-L-glutamate
  • 4-Hydroxy-L-glutamic acid
  • Erythro-4-hydroxyglutamate
2485-33-8
4-Hydroxy-L-proline
  • (2S)-4-hydroxypyrrolidine-2-carboxylic acid
  • (4S)-4-hydroxy-L-Proline
  • 4-Hydroxy-L-Proline
  • Allo-4-Hydroxy-L-proline
  • Allo-4-Hydroxyproline
30724-02-8
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
L-4-Hydroxyglutamate semialdehyde
genes like me logo Genes that share compounds with PRODH: view

Transcripts for PRODH Gene

Unigene Clusters for PRODH Gene

Proline dehydrogenase (oxidase) 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRODH Gene

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:
SP6: - - - -
SP7:
SP8:

Relevant External Links for PRODH Gene

GeneLoc Exon Structure for
PRODH
ECgene alternative splicing isoforms for
PRODH

Expression for PRODH Gene

mRNA expression in normal human tissues for PRODH Gene

Protein differential expression in normal tissues from HIPED for PRODH Gene

This gene is overexpressed in Bone (14.4), Brain (11.4), Frontal cortex (9.3), Fetal gut (7.4), Breast (7.3), and Spinal cord (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRODH Gene



SOURCE GeneReport for Unigene cluster for PRODH Gene Hs.517352

mRNA Expression by UniProt/SwissProt for PRODH Gene

O43272-PROD_HUMAN
Tissue specificity: Expressed in lung, skeletal muscle and brain, to a lesser extent in heart and kidney, and weakly in liver, placenta and pancreas.
genes like me logo Genes that share expression patterns with PRODH: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for PRODH Gene

Orthologs for PRODH Gene

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

Orthologs for PRODH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PRODH 35
  • 84.2 (n)
  • 82.63 (a)
PRODH 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRODH 35
  • 86.73 (n)
  • 87.96 (a)
PRODH 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prodh 35
  • 82.47 (n)
  • 81.97 (a)
Prodh 16
Prodh 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRODH 35
  • 85.37 (n)
  • 80.53 (a)
rat
(Rattus norvegicus)
Mammalia Prodh 35
  • 81.75 (n)
  • 81.3 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia PRODH 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRODH 35
  • 77.49 (n)
  • 75.42 (a)
PRODH 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRODH 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494891 35
  • 67.03 (n)
  • 72.23 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.12460 35
LOC100537991 35
  • 67.99 (n)
  • 68.97 (a)
PRODH (2 of 3) 36
  • 69 (a)
OneToMany
PRODH (3 of 3) 36
  • 75 (a)
OneToMany
prodha 36
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta slgA 37
  • 47 (a)
slgA 35
  • 56.11 (n)
  • 49.23 (a)
slgA 36
  • 40 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003860 35
  • 54.46 (n)
  • 49.01 (a)
worm
(Caenorhabditis elegans)
Secernentea B0513.5 37
  • 45 (a)
CELE_B0513.5 35
  • 51.63 (n)
  • 46.83 (a)
B0513.5 36
  • 41 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUT1 36
  • 20 (a)
OneToMany
PUT1 38
Species with no ortholog for PRODH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRODH Gene

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

Paralogs for PRODH Gene

Paralogs for PRODH Gene

(1) SIMAP similar genes for PRODH Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for PRODH Gene

genes like me logo Genes that share paralogs with PRODH: view

Variants for PRODH Gene

Sequence variations from dbSNP and Humsavar for PRODH Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_029563 -
VAR_029564 -
rs4819756 - 18,925,165(+) GGCCC(A/G)GTGGG nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, missense
VAR_029566 Hyperprolinemia 1 (HYRPRO1)
rs3970555 Schizophrenia 4 (SCZD4) 18,919,485(+) TGAGC(A/G)GCTTC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PRODH Gene

Variant ID Type Subtype PubMed ID
dgv1380e1 CNV Complex 17122850
nsv516997 CNV Gain+Loss 19592680
esv2751935 CNV Loss 17911159
dgv173e55 CNV Gain 17911159
esv32687 CNV Gain+Loss 17666407
esv22247 CNV Gain+Loss 19812545
dgv4821n71 CNV Gain 21882294
dgv4822n71 CNV Gain 21882294
dgv4823n71 CNV Gain 21882294
nsv442503 CNV CNV 18776908
nsv914186 CNV Gain 21882294
dgv4824n71 CNV Gain 21882294
essv17726 CNV CNV 17122850
dgv1381e1 CNV Complex 17122850
dgv1382e1 CNV Complex 17122850
nsv914191 CNV Gain 21882294
dgv4825n71 CNV Gain 21882294
dgv4826n71 CNV Loss 21882294
nsv914195 CNV Loss 21882294
dgv4827n71 CNV Loss 21882294
dgv4828n71 CNV Gain 21882294
dgv4829n71 CNV Gain+Loss 21882294
nsv914209 CNV Gain 21882294
nsv459336 CNV Loss 19166990
dgv541n27 CNV Gain 19166990
dgv542n27 CNV Loss 19166990
nsv471179 CNV Gain 18288195
nsv471180 CNV Loss 18288195
dgv543n27 CNV Gain 19166990
nsv435744 CNV Deletion 17901297
nsv914226 CNV Loss 21882294
nsv914227 CNV Loss 21882294
dgv174e55 CNV Gain 17911159
dgv1383e1 CNV Complex 17122850
nsv914231 CNV Gain 21882294
dgv4830n71 CNV Gain 21882294
dgv4831n71 CNV Gain 21882294
dgv4832n71 CNV Loss 21882294
nsv914244 CNV Loss 21882294
dgv4833n71 CNV Loss 21882294

Variation tolerance for PRODH Gene

Residual Variation Intolerance Score: 95.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.32; 88.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRODH Gene

HapMap Linkage Disequilibrium report
PRODH
Human Gene Mutation Database (HGMD)
PRODH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRODH Gene

Disorders for PRODH Gene

MalaCards: The human disease database

(12) MalaCards diseases for PRODH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
schizophrenia 4
  • schizophrenia, susceptibility to, 4
hyperprolinemia, type i
  • proline oxidase deficiency
hyperprolinemia
  • hyperprolinemia type 1
schizophrenia
  • schizophrenia 12
psychotic disorder
  • mental or behavioural disorder
- elite association - COSMIC cancer census association via MalaCards
Search PRODH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PROD_HUMAN
  • Hyperprolinemia 1 (HYRPRO1) [MIM:239500]: An inborn error of proline metabolism resulting in elevated levels of proline in the plasma and urine. The disorder is generally benign and most affected individuals are clinically asymptomatic. Some patients, however, have neurologic manifestations, including epilepsy and mental retardation. Association with certain forms of schizophrenia have been reported. {ECO:0000269 PubMed:12217952, ECO:0000269 PubMed:15662599, ECO:0000269 PubMed:17135275}. 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. {ECO:0000269 PubMed:11891283, ECO:0000269 PubMed:15662599}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for PRODH

Genetic Association Database (GAD)
PRODH
Human Genome Epidemiology (HuGE) Navigator
PRODH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRODH
genes like me logo Genes that share disorders with PRODH: view

No data available for Genatlas for PRODH Gene

Publications for PRODH Gene

  1. PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. (PMID: 12217952) Jacquet H. … Frebourg T. (Hum. Mol. Genet. 2002) 3 4 23 48 67
  2. The metabolism of proline, a stress substrate, modulates carcinogenic pathways. (PMID: 18401543) Phang J.M. … Liu Y. (Amino Acids 2008) 23 25 26
  3. Structure and kinetics of monofunctional proline dehydrogenase from Thermus thermophilus. (PMID: 17344208) White T.A. … Tanner J.J. (J. Biol. Chem. 2007) 23 25 26
  4. The gene encoding proline dehydrogenase modulates sensorimotor gating in mice. (PMID: 10192398) Gogos J.A. … Karayiorgou M. (Nat. Genet. 1999) 2 3 23
  5. Proline metabolism and microenvironmental stress. (PMID: 20415579) Phang J.M. … Zabirnyk O. (Annu. Rev. Nutr. 2010) 25 26

Products for PRODH Gene

Sources for PRODH Gene

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