PRODH proline dehydrogenase 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (18912781..18936553, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (19288173..19311947, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (18900294..18924066, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proline Dehydrogenase (PRODH) Is Expressed in Lung Adenocarcinoma and Modulates Cell Survival and 3D Growth by Inducing Cellular Senescence.
Title: Proline Dehydrogenase (PRODH) Is Expressed in Lung Adenocarcinoma and Modulates Cell Survival and 3D Growth by Inducing Cellular Senescence.
Prognostic and immunomodulatory roles of schizophrenia-associated genes HTR2A, COMT, and PRODH in pan-cancer analysis and glioma survival prediction model.
Title: Prognostic and immunomodulatory roles of schizophrenia-associated genes HTR2A, COMT, and PRODH in pan-cancer analysis and glioma survival prediction model.
Impact of COMT, PRODH and DISC1 Genetic Variants on Cognitive Performance of Patients with Schizophrenia.
Title: Impact of COMT, PRODH and DISC1 Genetic Variants on Cognitive Performance of Patients with Schizophrenia.
Metformin Treatment or PRODH/POX-Knock out Similarly Induces Apoptosis by Reprograming of Amino Acid Metabolism, TCA, Urea Cycle and Pentose Phosphate Pathway in MCF-7 Breast Cancer Cells.
Title: Metformin Treatment or PRODH/POX-Knock out Similarly Induces Apoptosis by Reprograming of Amino Acid Metabolism, TCA, Urea Cycle and Pentose Phosphate Pathway in MCF-7 Breast Cancer Cells.
Understanding the role of key amino acids in regulation of proline dehydrogenase/proline oxidase (prodh/pox)-dependent apoptosis/autophagy as an approach to targeted cancer therapy.
Title: Understanding the role of key amino acids in regulation of proline dehydrogenase/proline oxidase (prodh/pox)-dependent apoptosis/autophagy as an approach to targeted cancer therapy.
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.
Title: Exercise Reveals Proline Dehydrogenase as a Potential Target in Heart Failure.
PRODH1-mediated proline metabolism promotes pancreatic ductal adenocarcinoma growth.
Title: Collagen-derived proline promotes pancreatic ductal adenocarcinoma cell survival under nutrient limited conditions.
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
Title: Cytosolic Accumulation of L-Proline Disrupts GABA-Ergic Transmission through GAD Blockade.
PRODH/POX knockdown decreased DNA and collagen biosynthesis, whereas increased prolidase activity and intracellular proline level in MCF-7shPRODH/POX cells.
Title: Functional Consequences of Intracellular Proline Levels Manipulation Affecting PRODH/POX-Dependent Pro-Apoptotic Pathways in a Novel in Vitro Cell Culture Model.
this study shows that PRODH plays a causative role in DNA damage-induced senescence through the enzymatic generation of reactive oxygen species
Title: Proline dehydrogenase promotes senescence through the generation of reactive oxygen species.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Human metabolic individuality in biomedical and pharmaceutical research. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D22S1265 (e-PCR), detects polymorphism
- UniSTS:26402

D22S315 (e-PCR)
- UniSTS:72005

D22S446 (e-PCR)
- UniSTS:32428

PRODH__5587 (e-PCR)
- UniSTS:471729

G30159 (e-PCR)
- UniSTS:2739

D22S283 (e-PCR)
- UniSTS:8639

SHGC-44364 (e-PCR)
- UniSTS:47561

NIB1910 (e-PCR)
- UniSTS:47584

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

Process	Evidence Code	Pubs
involved_in 4-hydroxyproline catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to oxidative stress	NAS Non-traceable Author Statement more info	PubMed
involved_in proline catabolic process	TAS Traceable Author Statement more info
involved_in proline catabolic process to glutamate	IBA Inferred from Biological aspect of Ancestor more info
involved_in proline catabolic process to glutamate	IEA Inferred from Electronic Annotation more info
involved_in proline metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	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
located_in mitochondrion	HTP more info	PubMed
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

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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

EC 1.5.5.2

NP_001355179.2

EC 1.5.5.2

NP_057419.5

EC 1.5.5.2

NCBI Reference Sequences (RefSeq)

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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

NG_008226.3 RefSeqGene

Range

5261..28773

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001195226.2 → NP_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/TrEMBL

A0AAG2SZT6, E7EQL6

Related

ENSP00000334726.2, ENST00000334029.6
NM_001368250.2 → NP_001355179.2 proline dehydrogenase 1, mitochondrial isoform 2

Status: REVIEWED

Source sequence(s)

AC007326

UniProtKB/TrEMBL

E7EQL6

Related

ENSP00000410805.1, ENST00000420436.5
NM_016335.6 → NP_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

A0A087WWM6, A6NF53, O14680, O43272, Q0P507, Q147W8, Q504W1, Q59FI8, Q6NV86, Q9UF13

UniProtKB/TrEMBL

A0AAG2SXN7

Related

ENSP00000349577.6, ENST00000357068.11