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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5625
Gene name Gene Name - the full gene name approved by the HGNC.	Proline dehydrogenase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PRODH
Synonyms (NCBI Gene) Gene synonyms aliases	HSPOX2, PIG6, POX, PRODH1, TP53I6
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.21
Summary Summary of gene provided in NCBI Entrez 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

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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 assay, qRT-PCR, Western blot	20562915
MIRT004581	hsa-miR-23b-5p	Luciferase reporter assay, qRT-PCR, Western 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

Transcription factors

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Transcription factor	Regulation	Reference
MYC	Repression	22615405

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004657	Function	Proline dehydrogenase activity	EXP	15662599
GO:0004657	Function	Proline dehydrogenase activity	IBA	21873635
GO:0004657	Function	Proline dehydrogenase activity	IDA	15662599
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006560	Process	Proline metabolic process	TAS	9385373
GO:0006562	Process	Proline catabolic process	TAS
GO:0008631	Process	Intrinsic apoptotic signaling pathway in response to oxidative stress	NAS	9305847
GO:0010133	Process	Proline catabolic process to glutamate	IBA	21873635
GO:0010133	Process	Proline catabolic process to glutamate	IEA
GO:0010942	Process	Positive regulation of cell death	IDA	23743200
GO:0019470	Process	4-hydroxyproline catabolic process	TAS	21998747
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0071949	Function	FAD binding	IBA	21873635
GO:0071949	Function	FAD binding	IDA	15662599

MIM	HGNC	e!Ensembl
606810	9453	ENSG00000100033

Protein

UniProt ID

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

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hyperprolinemia	Hyperprolinemia, Hyperprolinemia type 1	rs779536510, rs387906314, rs78532707, rs1557620472
Kidney disease	Kidney Diseases, Chronic Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	29545352
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Proline dehydrogenase deficiency	Proline dehydrogenase deficiency	rs193919334, rs772562722	17135275, 18197084, 15662599, 12217952, 24816252, 20524212, 23462603
Schizophrenia	Schizophrenia, SCHIZOPHRENIA 4 (disorder)	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	16234811, 11891283, 12217952, 15662599

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Hyperglycinuria	HYPERGLYCINURIA (disorder)			ClinVar

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text Mining
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)