https://www.ncbi.nlm.nih.gov/gene/5625
- Official Symbol
- PRODHprovided by HGNC
- Official Full Name
- proline dehydrogenase 1provided by HGNC
- 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
Related articles in PubMed
- Exercise Reveals Proline Dehydrogenase as a Potential Target in Heart Failure. Moreira JBN, et al. Prog Cardiovasc Dis, 2019 Mar - Apr. PMID 30867130
- Functional Consequences of Intracellular Proline Levels Manipulation Affecting PRODH/POX-Dependent Pro-Apoptotic Pathways in a Novel in Vitro Cell Culture Model. Zareba I, et al. Cell Physiol Biochem, 2017. PMID 28942439
- Proline dehydrogenase promotes senescence through the generation of reactive oxygen species. Nagano T, et al. J Cell Sci, 2017 Apr 15. PMID 28264926
- Relationship between polymorphisms in the proline dehydrogenase gene and schizophrenia risk. Ghasemvand F, et al. Genet Mol Res, 2015 Oct 2. PMID 26436492
- PRODH polymorphisms, cortical volumes and thickness in schizophrenia. Ota VK, et al. PLoS One, 2014. PMID 24498354, Free PMC Article
GeneRIFs: Gene References Into Functions
- 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.
- PRODH1-mediated proline metabolism promotes pancreatic ductal adenocarcinoma growth.
- 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
- PRODH/POX knockdown decreased DNA and collagen biosynthesis, whereas increased prolidase activity and intracellular proline level in MCF-7shPRODH/POX cells.
- this study shows that PRODH plays a causative role in DNA damage-induced senescence through the enzymatic generation of reactive oxygen species
- the frequency of a recurrent small 22q11.2 deletion encompassing PRODH and the neighboring DGCR6 gene in three case-control studies, was studied.
- The findings support a major role for the PRODH 757TT, 1766GG, and 1852AA genotypes alone and in combination for schizophrenia susceptibility.
- Thirty-five percent of the subjects were hyperprolinemic, allele carriers of PRODH rs450046 had a lower full-scale intelligence compared to T allele carriers
- GR and KLF15 physically interact via low affinity GR binding sites within glucocorticoid response elements (GREs) for PRODH and AASS that contribute to combinatorial regulation with KLF15.
- results suggest that PRODH and COMT may interact to contribute to the ASD phenotype in individuals with VCFS
- Preferred Names
- proline dehydrogenase 1, mitochondrial
- Names
- p53-induced gene 6 protein
- proline dehydrogenase (oxidase) 1
- proline oxidase 2
- proline oxidase, mitochondrial
- tumor protein p53 inducible protein 6
Katson proliinidehydrogenaasiensyymiä ensin.
https://www.ncbi.nlm.nih.gov/protein/NP_057419.5
proline dehydrogenase 1, mitochondrial isoform 1 precursor [Homo sapiens]
NCBI Reference Sequence: NP_057419.5
LOCUS NP_057419 600 aa linear PRI 09-JUN-2019
DEFINITION proline dehydrogenase 1, mitochondrial isoform 1 precursor [Homo
sapiens].
ACCESSION NP_057419 NP_005965
VERSION NP_057419.5
DBSOURCE REFSEQ: accession NM_016335.5
KEYWORDS RefSeq; RefSeq Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 600)
AUTHORS Moreira JBN, Wohlwend M, Fenk S, Amellem I, Flatberg A, Kraljevic
J, Marinovic J, Ljubkovic M, Bjorkoy G and Wisloff U.
TITLE Exercise Reveals Proline Dehydrogenase as a Potential Target in
Heart Failure
JOURNAL Prog Cardiovasc Dis 62 (2), 193-202 (2019)
PUBMED 30867130
REMARK GeneRIF: 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.
Review article
REFERENCE 2 (residues 1 to 600)
AUTHORS Olivares O, Mayers JR, Gouirand V, Torrence ME, Gicquel T, Borge L,
Lac S, Roques J, Lavaut MN, Berthezene P, Rubis M, Secq V, Garcia
S, Moutardier V, Lombardo D, Iovanna JL, Tomasini R, Guillaumond F,
Vander Heiden MG and Vasseur S.
TITLE Collagen-derived proline promotes pancreatic ductal adenocarcinoma
cell survival under nutrient limited conditions
JOURNAL Nat Commun 8, 16031 (2017)
PUBMED 28685754
REMARK GeneRIF: PRODH1-mediated proline metabolism promotes pancreatic
ductal adenocarcinoma growth.
Publication Status: Online-Only
REFERENCE 3 (residues 1 to 600)
AUTHORS Nagano T, Nakashima A, Onishi K, Kawai K, Awai Y, Kinugasa M,
Iwasaki T, Kikkawa U and Kamada S.
TITLE Proline dehydrogenase promotes senescence through the generation of
reactive oxygen species
JOURNAL J. Cell. Sci. 130 (8), 1413-1420 (2017)
PUBMED 28264926
REMARK GeneRIF: this study shows that PRODH plays a causative role in DNA
damage-induced senescence through the enzymatic generation of
reactive oxygen species
REFERENCE 4 (residues 1 to 600)
AUTHORS Zareba I, Surazynski A, Chrusciel M, Miltyk W, Doroszko M, Rahman N
and Palka J.
TITLE Functional Consequences of Intracellular Proline Levels
Manipulation Affecting PRODH/POX-Dependent Pro-Apoptotic Pathways
in a Novel in Vitro Cell Culture Model
JOURNAL Cell. Physiol. Biochem. 43 (2), 670-684 (2017)
PUBMED 28942439
REMARK GeneRIF: PRODH/POX knockdown decreased DNA and collagen
biosynthesis, whereas increased prolidase activity and
intracellular proline level in MCF-7shPRODH/POX cells.
REFERENCE 5 (residues 1 to 600)
AUTHORS Crabtree GW, Park AJ, Gordon JA and Gogos JA.
TITLE Cytosolic Accumulation of L-Proline Disrupts GABA-Ergic
Transmission through GAD Blockade
JOURNAL Cell Rep 17 (2), 570-582 (2016)
PUBMED 27705802
REMARK GeneRIF: 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
REFERENCE 6 (residues 1 to 600)
AUTHORS Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
TITLE Initial assessment of human gene diversity and expression patterns
based upon 83 million nucleotides of cDNA sequence
JOURNAL Nature 377 (6547 Suppl), 3-174 (1995)
PUBMED 7566098
REFERENCE 7 (residues 1 to 600)
AUTHORS Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R,
Borrow J, Gos A, Nestadt G, Wolyniec PS, Lasseter VK et al.
TITLE Schizophrenia susceptibility associated with interstitial deletions
of chromosome 22q11
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 92 (17), 7612-7616 (1995)
PUBMED 7644464
REFERENCE 8 (residues 1 to 600)
AUTHORS Lindsay,E.A., Morris,M.A., Gos,A., Nestadt,G., Wolyniec,P.S.,
Lasseter,V.K., Shprintzen,R., Antonarakis,S.E., Baldini,A. and
Pulver,A.E.
TITLE Schizophrenia and chromosomal deletions within 22q11.2
JOURNAL Am. J. Hum. Genet. 56 (6), 1502-1503 (1995)
PUBMED 7762575
REFERENCE 9 (residues 1 to 600)
AUTHORS Coon H, Jensen S, Holik J, Hoff M, Myles-Worsley M, Reimherr F,
Wender P, Waldo M, Freedman R, Leppert M et al.
TITLE Genomic scan for genes predisposing to schizophrenia
JOURNAL Am. J. Med. Genet. 54 (1), 59-71 (1994)
PUBMED 7909992
REFERENCE 10 (residues 1 to 600)
AUTHORS Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R,
Shprintzen R, Wilson DI, Goodship JA, Cross IE and Burn J.
TITLE Velo-cardio-facial syndrome associated with chromosome 22 deletions
encompassing the DiGeorge locus
JOURNAL Lancet 339 (8802), 1138-1139 (1992)
PUBMED 1349369
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC007326.28.
On Jan 31, 2019 this sequence version replaced NP_057419.4.
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].
Transcript Variant: This variant (1) encodes the longer isoform
(1).
Sequence Note: The RefSeq transcript and protein were derived from
genomic sequence to make the sequence consistent with the reference
genome assembly. The genomic coordinates used for the transcript
record were based on alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
CDS exon combination :: SRR1803614.19175.1, SRR1660805.167443.1
[ECO:0000331]
RNAseq introns :: mixed/partial sample support SAMEA1965299,
SAMEA1966682 [ECO:0000350]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
RefSeq Select criteria :: based on conservation,
expression, longest protein
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..600
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q11.21"
Protein 1..600
/product="proline dehydrogenase 1, mitochondrial isoform 1
precursor"
/EC_number="1.5.5.2"
/note="tumor protein p53 inducible protein 6; proline
oxidase, mitochondrial; proline dehydrogenase 1,
mitochondrial; proline oxidase 2; proline dehydrogenase
(oxidase) 1; p53-induced gene 6 protein"
/calculated_mol_wt=67898
Site 368
/site_type="acetylation"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine. {ECO:0000250|UniProtKB:Q9WU79};
propagated from UniProtKB/Swiss-Prot (O43272.3)"
Site 486
/site_type="acetylation"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine. {ECO:0000250|UniProtKB:Q9WU79};
propagated from UniProtKB/Swiss-Prot (O43272.3)"
CDS 1..600
/gene="PRODH"
/gene_synonym="HSPOX2; PIG6; POX; PRODH1; PRODH2; TP53I6"
/coded_by="NM_016335.5:205..2007"
/note="isoform 1 precursor is encoded by transcript
variant 1"
/db_xref="CCDS:CCDS13754.1"
/db_xref="GeneID:5625"
/db_xref="HGNC:HGNC:9453"
/db_xref="MIM:606810"
ORIGIN
1 malrralpal rpciprfvpl stapasreqp aagpaavpgg gsatavrppv pavdfgnaqe
61 ayrsrrtwel arsllvlrlc awpallarhe qllyvsrkll gqrlfnklmk mtfyghfvag
121 edqesiqpll rhyrafgvsa ildygveedl speeaehkem esctsaaerd gsgtnkrdkq
181 yqahwafgdr rngvisarty fyaneakcds hmetflrcie asgrvsddgf iaikltalgr
241 pqfllqfsev lakwrcffhq maveqgqagl aamdtkleva vlqesvaklg iasraeiedw
301 ftaetlgvsg tmdlldwssl idsrtklskh lvvpnaqtgq lepllsrfte eeelqmtrml
361 qrmdvlakka temgvrlmvd aeqtyfqpai srltlemqrk fnvekplifn tyqcylkday
421 dnvtldvela rregwcfgak lvrgaylaqe raraaeigye dpinptyeat namyhrcldy
481 vleelkhnak akvmvashne dtvrfalrrm eelglhpadh rvyfgqllgm cdqisfplgq
541 agypvykyvp ygpvmevlpy lsrralenss lmkgthrerq llwlellrrl rtgnlfhrpa
//
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