Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5625
Gene name	Proline dehydrogenase 1
Gene symbol	PRODH
Synonyms (NCBI Gene)	HSPOX2PIG6POXPRODH1TP53I6
Chromosome	22
Chromosome location	22q11.21
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

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs450046	C>A,G,T	Risk-factor, benign, pathogenic	Coding sequence variant, missense variant
rs1807467	C>A	Risk-factor, pathogenic	Coding sequence variant, missense variant
rs2870984	G>A	Risk-factor, likely-pathogenic, likely-benign	Coding sequence variant, missense variant
rs2904551	A>G	Risk-factor, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs2904552	C>T	Risk-factor, pathogenic	Coding sequence variant, missense variant
rs3970559	G>A	Risk-factor, uncertain-significance, benign-likely-benign	Coding sequence variant, missense variant
rs193919334	G>A,C,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs772562722	G>T	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (23)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004581	hsa-miR-23b-5p	Luciferase reporter assayqRT-PCRWestern blot	20562915
MIRT004581	hsa-miR-23b-5p	Luciferase reporter assayqRT-PCRWestern blot	20562915
MIRT2304431	hsa-miR-145	CLIP-seq
MIRT2304432	hsa-miR-1825	CLIP-seq
MIRT2304433	hsa-miR-1915	CLIP-seq
MIRT2304434	hsa-miR-199a-5p	CLIP-seq
MIRT2304435	hsa-miR-199b-5p	CLIP-seq
MIRT2304436	hsa-miR-3180-5p	CLIP-seq
MIRT2304437	hsa-miR-4514	CLIP-seq
MIRT2304438	hsa-miR-4645-5p	CLIP-seq
MIRT2304439	hsa-miR-4673	CLIP-seq
MIRT2304440	hsa-miR-4687-3p	CLIP-seq
MIRT2304441	hsa-miR-4692	CLIP-seq
MIRT2304442	hsa-miR-4726-3p	CLIP-seq
MIRT2304443	hsa-miR-4736	CLIP-seq
MIRT2304444	hsa-miR-940	CLIP-seq
MIRT2601355	hsa-miR-1205	CLIP-seq
MIRT2601356	hsa-miR-1207-3p	CLIP-seq
MIRT2601357	hsa-miR-1286	CLIP-seq
MIRT2601358	hsa-miR-140-5p	CLIP-seq
MIRT2601359	hsa-miR-299-5p	CLIP-seq
MIRT2601360	hsa-miR-4722-5p	CLIP-seq
MIRT2601361	hsa-miR-873	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
MYC	Repression	22615405

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004657	Function	Proline dehydrogenase activity	EXP	15662599
GO:0004657	Function	Proline dehydrogenase activity	IBA
GO:0004657	Function	Proline dehydrogenase activity	IDA	15662599
GO:0004657	Function	Proline dehydrogenase activity	IEA
GO:0004657	Function	Proline dehydrogenase activity	TAS	10192398
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006560	Process	Proline metabolic process	IEA
GO:0006560	Process	Proline metabolic process	TAS	9385373
GO:0006562	Process	L-proline catabolic process	IEA
GO:0006562	Process	L-proline catabolic process	TAS
GO:0008631	Process	Intrinsic apoptotic signaling pathway in response to oxidative stress	NAS	9305847
GO:0010133	Process	L-proline catabolic process to L-glutamate	IBA
GO:0010133	Process	L-proline catabolic process to L-glutamate	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019470	Process	Trans-4-hydroxy-L-proline catabolic process	TAS	21998747
GO:0071949	Function	FAD binding	IBA
GO:0071949	Function	FAD binding	IDA	15662599
GO:1903376	Process	Regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA	23743200

MIM	HGNC	e!Ensembl
606810	9453	ENSG00000100033

O43272

Protein name

Proline dehydrogenase 1, mitochondrial (EC 1.5.5.2) (Proline oxidase) (Proline oxidase 2) (p53-induced gene 6 protein)

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01619	Pro_dh	128 → 577	Proline dehydrogenase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in lung, skeletal muscle and brain, to a lesser extent in heart and kidney, and weakly in liver, placenta and pancreas.

Sequence

MALRRALPALRPCIPRFVQLSTAPASREQPAAGPAAVPGGGSATAVRPPVPAVDFGNAQE
AYRSRRTWELARSLLVLRLCAWPALLARHEQLLYVSRKLLGQRLFNKLMKMTFYGHFVAG
EDQESIQPLLRHYRAFGVSAILDYGVEEDLSPEEAEHKEMESCTSAAERDGSGTNKRDKQ
YQAHRAFGDRRNGVISARTYFYANEAKCDSHMETFLRCIEASGRVSDDGFIAIKLTALGR
PQFLLQFSEVLAKWRCFFHQMAVEQGQAGLAAMDTKLEVAVLQESVAKLGIASRAEIEDW
FTAETLGVSGTMDLLDWSSLIDSRTKLSKHLVVPNAQTGQLEPLLSRFTEEEELQMTRML
QRMDVLAKKATEMGVRLMVDAEQTYFQPAISRLTLEMQRKFNVEKPLIFNTYQCYLKDAY
DNVTLDVELARREGWCFGAKLVRGAYLAQERARAAEIGYEDPINPTYEATNAMYHRCLDY
VLEELKHNAKAKVMVASHNEDTVRFALRRMEELGLHPADHQVYFGQLLGMCDQISFPLGQ
AGYPVYKYVPYGPVMEVLPYLSRRALENSSLMKGTHRERQLLWLELLRRLRTGNLFHRPA

Sequence length

600

Interactions

View interactions

	KEGG		Reactome
	Arginine and proline metabolism Metabolic pathways		Proline catabolism

399

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Proline dehydrogenase deficiency	Likely pathogenic; Pathogenic	rs2082011693, rs1305005935, rs2146223995, rs2517463579, rs755378169, rs193919334, rs2870997, rs2517455884, rs2517453236, rs2517460527, rs1347601186, rs780557421, rs772562722	RCV005032779 RCV001926788 RCV001893771 RCV003080250 RCV003100205 RCV000004226 RCV002629771 RCV002765461 RCV002810331 RCV002862455 RCV003044787 RCV003609919 RCV003609166
Schizophrenia 4	Likely pathogenic; Pathogenic	rs2082011693, rs2870997, rs780557421	RCV005032779 RCV005028313 RCV005037023

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs751149776	RCV005925389
Cervical cancer	Benign	rs2008720	RCV005909480
Cholangiocarcinoma	Benign	rs3216765	RCV005867087
Clear cell carcinoma of kidney	Likely benign	rs369488934	RCV005934804
Gastric cancer	Benign	rs2008720	RCV005909481
Lung cancer	Benign	rs2008720	RCV005909482
Sarcoma	Benign	rs432841	RCV005924834
Thymoma	Uncertain significance	rs745902339	RCV005930023
Uterine carcinosarcoma	Benign	rs432841	RCV005924835
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	rs2008720, rs751149776	RCV005909483 RCV005925390

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
22q11 Deletion Syndrome	Associate	17028864, 18989458, 21738766, 26055684
Adenocarcinoma	Associate	38255788
Adenocarcinoma of Lung	Associate	38255788
Autism Spectrum Disorder	Associate	25325218
Autistic Disorder	Associate	21448237
Breast Neoplasms	Associate	28942439, 34085157, 34944532, 35163433, 35409177
Carcinogenesis	Associate	31559416, 37564635
Carcinoma Neuroendocrine	Associate	31852810
Carcinoma Non Small Cell Lung	Associate	38255788
Cognition Disorders	Associate	26055684
Colorectal Neoplasms	Associate	18794809
Conotruncal cardiac defects	Associate	33707356
Diabetic Foot	Associate	38287255
DiGeorge Syndrome	Associate	15662599, 18989458, 19420922, 25325218, 25981510, 26221035, 39496467
DiGeorge Syndrome	Inhibit	18806117, 26978485
DiGeorge Syndrome	Stimulate	33707356
Glioblastoma	Associate	28245795
Heart Defects Congenital	Associate	25981510
Heart Diseases	Associate	24400131
Hyperprolinemia type 2	Associate	15662599, 26978485
Kidney Neoplasms	Associate	20562915
Kidney Neoplasms	Inhibit	22615405
Lung Diseases	Associate	38255788
Lymphoma Non Hodgkin	Associate	37564635
Melanoma	Associate	19383853
Metabolism Inborn Errors	Associate	18806117
Neoplasm Metastasis	Associate	34670517
Neoplasms	Inhibit	20562915, 28245795
Neoplasms	Associate	22796327, 23861960, 37564635
Neoplasms	Stimulate	38255788
Neurologic Manifestations	Associate	24218577
Rhabdomyosarcoma	Associate	34670517
Schizophrenia	Associate	15662599, 18806117, 18989458, 21645996, 24218577, 24787057, 27622935, 27846841, 37564635
Tetralogy of Fallot	Associate	24400131, 25981510, 33707356
Triple Negative Breast Neoplasms	Associate	31559416

PRODH (proline dehydrogenase 1)