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PRODH (proline dehydrogenase 1)
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 nameGene Name - the full gene name approved by the HGNC.
Proline dehydrogenase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PRODH
SynonymsGene synonyms aliases
HSPOX2, PIG6, POX, PRODH1, TP53I6
ChromosomeChromosome number
22
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
MYC Repression 22615405
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence
Sequence length 600
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Arginine and proline metabolism
Metabolic pathways 		  Proline catabolism
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hyperprolinemia Hyperprolinemia, Hyperprolinemia type 1 rs779536510, rs387906314, rs78532707, rs1557620472
Kidney disease Kidney Diseases, Chronic Kidney Diseases rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 29545352
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder 17106420, 16389584
Disorder of amino acid metabolism Amino Acid Metabolism, Inborn Errors 17412540
Hyperglycinuria HYPERGLYCINURIA (disorder) rs35329108, rs77010315, rs371203963, rs17279437, rs569114783, rs886058526, rs2742388, rs17078308, rs763196010, rs539802611, rs570836605, rs531832972, rs368608688, rs774194927, rs886058536, rs73060335, rs60986539, rs371002443, rs144563792, rs775911371, rs747095857, rs758386, rs561215947, rs2742399, rs777914805, rs373219947, rs2271616, rs2251109, rs886058525, rs886058527, rs554759297, rs747117264, rs150768360, rs541425547, rs17213127, rs577430886, rs886058529, rs560591051, rs57468640, rs866725621, rs144151884, rs116590098, rs9811206, rs886058535, rs886058537, rs553024616, rs886058538, rs202094508, rs144826762, rs771872725, rs139940581, rs13314717, rs373600065, rs886058548, rs567898651, rs115438130, rs530275150, rs778688066, rs886058530, rs139410525, rs886058534, rs2531750, rs2251347, rs541823457, rs886058539, rs376448611, rs886058541, rs139256040, rs148597602, rs149854452, rs34458611, rs2276858, rs886058544, rs779053318, rs202049492, rs565896481, rs886058546, rs2271615, rs760366170, rs886058547, rs562961153, rs116082988, rs886058528, rs886058531, rs886058532, rs886058533, rs535180634, rs149175344, rs886058540, rs575264353, rs2191027, rs147777980, rs886058542, rs886058543, rs886058545, rs145164127, rs781203780, rs886058549, rs766388628, rs756010661
Inherited errors of amino acid metabolism Amino Acid Metabolism, Inherited Disorders 17412540

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