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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79912
Gene name Gene Name - the full gene name approved by the HGNC.	Pyridine nucleotide-disulphide oxidoreductase domain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PYROXD1
Synonyms (NCBI Gene) Gene synonyms aliases	MFM8
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MFM8
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p12.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyri

Show/Hide all(5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs369083786	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs755208949	G>C	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs781565158	A>G	Pathogenic	Genic upstream transcript variant, intron variant, non coding transcript variant, missense variant, coding sequence variant
rs1057518754	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1057518755	->CAAA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant

Show/Hide all(269)

miRTarBase ID	miRNA	Experiments	Reference
MIRT271390	hsa-miR-590-3p	HITS-CLIP	19536157
MIRT185151	hsa-miR-6733-3p	HITS-CLIP	19536157
MIRT185145	hsa-miR-4302	HITS-CLIP	19536157
MIRT724808	hsa-miR-4775	HITS-CLIP	19536157
MIRT185146	hsa-miR-4276	HITS-CLIP	19536157
MIRT724807	hsa-miR-30a-3p	HITS-CLIP	19536157
MIRT724806	hsa-miR-30d-3p	HITS-CLIP	19536157
MIRT724805	hsa-miR-30e-3p	HITS-CLIP	19536157
MIRT271390	hsa-miR-590-3p	HITS-CLIP	19536157
MIRT185151	hsa-miR-6733-3p	HITS-CLIP	19536157
MIRT185145	hsa-miR-4302	HITS-CLIP	19536157
MIRT724808	hsa-miR-4775	HITS-CLIP	19536157
MIRT185146	hsa-miR-4276	HITS-CLIP	19536157
MIRT724807	hsa-miR-30a-3p	HITS-CLIP	19536157
MIRT724806	hsa-miR-30d-3p	HITS-CLIP	19536157
MIRT724805	hsa-miR-30e-3p	HITS-CLIP	19536157
MIRT1279593	hsa-miR-1184	CLIP-seq
MIRT1279594	hsa-miR-1205	CLIP-seq
MIRT1279595	hsa-miR-1253	CLIP-seq
MIRT1279596	hsa-miR-141	CLIP-seq
MIRT1279597	hsa-miR-200a	CLIP-seq
MIRT1279598	hsa-miR-219-2-3p	CLIP-seq
MIRT1279599	hsa-miR-3146	CLIP-seq
MIRT1279600	hsa-miR-3158-5p	CLIP-seq
MIRT1279601	hsa-miR-3163	CLIP-seq
MIRT1279602	hsa-miR-3185	CLIP-seq
MIRT1279603	hsa-miR-3674	CLIP-seq
MIRT1279604	hsa-miR-3682-3p	CLIP-seq
MIRT1279605	hsa-miR-3935	CLIP-seq
MIRT1279606	hsa-miR-3943	CLIP-seq
MIRT1279607	hsa-miR-4272	CLIP-seq
MIRT1279608	hsa-miR-431	CLIP-seq
MIRT1279609	hsa-miR-4323	CLIP-seq
MIRT1279610	hsa-miR-4417	CLIP-seq
MIRT1279611	hsa-miR-4502	CLIP-seq
MIRT1279612	hsa-miR-4520a-3p	CLIP-seq
MIRT1279613	hsa-miR-4520b-3p	CLIP-seq
MIRT1279614	hsa-miR-4698	CLIP-seq
MIRT1279615	hsa-miR-511	CLIP-seq
MIRT1279616	hsa-miR-513a-3p	CLIP-seq
MIRT1279617	hsa-miR-544	CLIP-seq
MIRT1279618	hsa-miR-562	CLIP-seq
MIRT1279619	hsa-miR-571	CLIP-seq
MIRT1279620	hsa-miR-577	CLIP-seq
MIRT1279621	hsa-miR-580	CLIP-seq
MIRT1279622	hsa-miR-633	CLIP-seq
MIRT1279623	hsa-miR-635	CLIP-seq
MIRT1279624	hsa-miR-7	CLIP-seq
MIRT1279593	hsa-miR-1184	CLIP-seq
MIRT1279594	hsa-miR-1205	CLIP-seq
MIRT1279600	hsa-miR-3158-5p	CLIP-seq
MIRT2082546	hsa-miR-3607-3p	CLIP-seq
MIRT2082547	hsa-miR-3686	CLIP-seq
MIRT2082548	hsa-miR-4652-3p	CLIP-seq
MIRT2082549	hsa-miR-488	CLIP-seq
MIRT2082550	hsa-miR-491-3p	CLIP-seq
MIRT1279601	hsa-miR-3163	CLIP-seq
MIRT2308042	hsa-miR-4735-5p	CLIP-seq
MIRT2308043	hsa-miR-4764-3p	CLIP-seq
MIRT2082549	hsa-miR-488	CLIP-seq
MIRT2082550	hsa-miR-491-3p	CLIP-seq
MIRT2308044	hsa-miR-501-3p	CLIP-seq
MIRT2308045	hsa-miR-502-3p	CLIP-seq
MIRT2308046	hsa-miR-664	CLIP-seq
MIRT2457523	hsa-miR-103b	CLIP-seq
MIRT2457524	hsa-miR-125a-5p	CLIP-seq
MIRT2457525	hsa-miR-125b	CLIP-seq
MIRT2457526	hsa-miR-1265	CLIP-seq
MIRT1279596	hsa-miR-141	CLIP-seq
MIRT2457527	hsa-miR-1587	CLIP-seq
MIRT1279597	hsa-miR-200a	CLIP-seq
MIRT2457528	hsa-miR-216a	CLIP-seq
MIRT1279598	hsa-miR-219-2-3p	CLIP-seq
MIRT2457529	hsa-miR-2964a-5p	CLIP-seq
MIRT2457530	hsa-miR-3147	CLIP-seq
MIRT1279602	hsa-miR-3185	CLIP-seq
MIRT2457531	hsa-miR-3653	CLIP-seq
MIRT2457532	hsa-miR-3658	CLIP-seq
MIRT2457533	hsa-miR-3668	CLIP-seq
MIRT1279604	hsa-miR-3682-3p	CLIP-seq
MIRT1279605	hsa-miR-3935	CLIP-seq
MIRT2457534	hsa-miR-4270	CLIP-seq
MIRT2457535	hsa-miR-4307	CLIP-seq
MIRT1279608	hsa-miR-431	CLIP-seq
MIRT2457536	hsa-miR-4319	CLIP-seq
MIRT2457537	hsa-miR-4425	CLIP-seq
MIRT2457538	hsa-miR-4441	CLIP-seq
MIRT2457539	hsa-miR-4492	CLIP-seq
MIRT2457540	hsa-miR-4498	CLIP-seq
MIRT1279611	hsa-miR-4502	CLIP-seq
MIRT2457541	hsa-miR-4656	CLIP-seq
MIRT2457542	hsa-miR-4674	CLIP-seq
MIRT2457543	hsa-miR-4675	CLIP-seq
MIRT2457544	hsa-miR-4696	CLIP-seq
MIRT2457545	hsa-miR-4732-3p	CLIP-seq
MIRT2457546	hsa-miR-4741	CLIP-seq
MIRT2457547	hsa-miR-4772-5p	CLIP-seq
MIRT2457548	hsa-miR-489	CLIP-seq
MIRT1279615	hsa-miR-511	CLIP-seq
MIRT2457549	hsa-miR-514	CLIP-seq
MIRT2457550	hsa-miR-514b-3p	CLIP-seq
MIRT2457551	hsa-miR-548c-3p	CLIP-seq
MIRT2457552	hsa-miR-556-5p	CLIP-seq
MIRT2457553	hsa-miR-561	CLIP-seq
MIRT2457554	hsa-miR-599	CLIP-seq
MIRT1279623	hsa-miR-635	CLIP-seq
MIRT2457555	hsa-miR-670	CLIP-seq
MIRT1279624	hsa-miR-7	CLIP-seq
MIRT2457556	hsa-miR-762	CLIP-seq
MIRT1279596	hsa-miR-141	CLIP-seq
MIRT1279597	hsa-miR-200a	CLIP-seq
MIRT1279604	hsa-miR-3682-3p	CLIP-seq
MIRT1279611	hsa-miR-4502	CLIP-seq
MIRT2457544	hsa-miR-4696	CLIP-seq
MIRT2457552	hsa-miR-556-5p	CLIP-seq
MIRT2457523	hsa-miR-103b	CLIP-seq
MIRT2605258	hsa-miR-1206	CLIP-seq
MIRT2457524	hsa-miR-125a-5p	CLIP-seq
MIRT2457525	hsa-miR-125b	CLIP-seq
MIRT2457526	hsa-miR-1265	CLIP-seq
MIRT1279596	hsa-miR-141	CLIP-seq
MIRT2457527	hsa-miR-1587	CLIP-seq
MIRT2605259	hsa-miR-186	CLIP-seq
MIRT1279597	hsa-miR-200a	CLIP-seq
MIRT2457528	hsa-miR-216a	CLIP-seq
MIRT1279598	hsa-miR-219-2-3p	CLIP-seq
MIRT2605260	hsa-miR-28-3p	CLIP-seq
MIRT2457529	hsa-miR-2964a-5p	CLIP-seq
MIRT2605261	hsa-miR-299-5p	CLIP-seq
MIRT2605262	hsa-miR-30a	CLIP-seq
MIRT2605263	hsa-miR-30b	CLIP-seq
MIRT2605264	hsa-miR-30c	CLIP-seq
MIRT2605265	hsa-miR-30d	CLIP-seq
MIRT2605266	hsa-miR-30e	CLIP-seq
MIRT2605267	hsa-miR-3145-3p	CLIP-seq
MIRT1279599	hsa-miR-3146	CLIP-seq
MIRT2457530	hsa-miR-3147	CLIP-seq
MIRT1279601	hsa-miR-3163	CLIP-seq
MIRT1279602	hsa-miR-3185	CLIP-seq
MIRT2605268	hsa-miR-3613-3p	CLIP-seq
MIRT2457531	hsa-miR-3653	CLIP-seq
MIRT2457532	hsa-miR-3658	CLIP-seq
MIRT2457533	hsa-miR-3668	CLIP-seq
MIRT1279603	hsa-miR-3674	CLIP-seq
MIRT1279604	hsa-miR-3682-3p	CLIP-seq
MIRT2605269	hsa-miR-376a	CLIP-seq
MIRT2605270	hsa-miR-376b	CLIP-seq
MIRT2605271	hsa-miR-380	CLIP-seq
MIRT1279605	hsa-miR-3935	CLIP-seq
MIRT2605272	hsa-miR-4263	CLIP-seq
MIRT2457534	hsa-miR-4270	CLIP-seq
MIRT2457535	hsa-miR-4307	CLIP-seq
MIRT1279608	hsa-miR-431	CLIP-seq
MIRT2457536	hsa-miR-4319	CLIP-seq
MIRT2457537	hsa-miR-4425	CLIP-seq
MIRT2605273	hsa-miR-4426	CLIP-seq
MIRT2457538	hsa-miR-4441	CLIP-seq
MIRT2605274	hsa-miR-4457	CLIP-seq
MIRT2457539	hsa-miR-4492	CLIP-seq
MIRT2605275	hsa-miR-4495	CLIP-seq
MIRT2457540	hsa-miR-4498	CLIP-seq
MIRT1279611	hsa-miR-4502	CLIP-seq
MIRT2605276	hsa-miR-4647	CLIP-seq
MIRT2457541	hsa-miR-4656	CLIP-seq
MIRT2605277	hsa-miR-4662b	CLIP-seq
MIRT2457542	hsa-miR-4674	CLIP-seq
MIRT2457543	hsa-miR-4675	CLIP-seq
MIRT2457544	hsa-miR-4696	CLIP-seq
MIRT2605278	hsa-miR-4703-3p	CLIP-seq
MIRT2605279	hsa-miR-4719	CLIP-seq
MIRT2457545	hsa-miR-4732-3p	CLIP-seq
MIRT2308042	hsa-miR-4735-5p	CLIP-seq
MIRT2457546	hsa-miR-4741	CLIP-seq
MIRT2457547	hsa-miR-4772-5p	CLIP-seq
MIRT2605280	hsa-miR-4790-3p	CLIP-seq
MIRT2457548	hsa-miR-489	CLIP-seq
MIRT2082550	hsa-miR-491-3p	CLIP-seq
MIRT1279615	hsa-miR-511	CLIP-seq
MIRT1279616	hsa-miR-513a-3p	CLIP-seq
MIRT2605281	hsa-miR-513b	CLIP-seq
MIRT2457549	hsa-miR-514	CLIP-seq
MIRT2457550	hsa-miR-514b-3p	CLIP-seq
MIRT2605282	hsa-miR-520d-5p	CLIP-seq
MIRT2605283	hsa-miR-524-5p	CLIP-seq
MIRT2457551	hsa-miR-548c-3p	CLIP-seq
MIRT2605284	hsa-miR-554	CLIP-seq
MIRT2457552	hsa-miR-556-5p	CLIP-seq
MIRT2457553	hsa-miR-561	CLIP-seq
MIRT1279618	hsa-miR-562	CLIP-seq
MIRT2605285	hsa-miR-576-5p	CLIP-seq
MIRT1279620	hsa-miR-577	CLIP-seq
MIRT1279621	hsa-miR-580	CLIP-seq
MIRT2605286	hsa-miR-586	CLIP-seq
MIRT2457554	hsa-miR-599	CLIP-seq
MIRT1279623	hsa-miR-635	CLIP-seq
MIRT2457555	hsa-miR-670	CLIP-seq
MIRT1279624	hsa-miR-7	CLIP-seq
MIRT2457556	hsa-miR-762	CLIP-seq
MIRT2605287	hsa-miR-934	CLIP-seq
MIRT2457523	hsa-miR-103b	CLIP-seq
MIRT2605258	hsa-miR-1206	CLIP-seq
MIRT2457524	hsa-miR-125a-5p	CLIP-seq
MIRT2457525	hsa-miR-125b	CLIP-seq
MIRT2457526	hsa-miR-1265	CLIP-seq
MIRT1279596	hsa-miR-141	CLIP-seq
MIRT2605259	hsa-miR-186	CLIP-seq
MIRT1279597	hsa-miR-200a	CLIP-seq
MIRT2457528	hsa-miR-216a	CLIP-seq
MIRT1279598	hsa-miR-219-2-3p	CLIP-seq
MIRT2605260	hsa-miR-28-3p	CLIP-seq
MIRT2457529	hsa-miR-2964a-5p	CLIP-seq
MIRT2605261	hsa-miR-299-5p	CLIP-seq
MIRT2605262	hsa-miR-30a	CLIP-seq
MIRT2605263	hsa-miR-30b	CLIP-seq
MIRT2605264	hsa-miR-30c	CLIP-seq
MIRT2605265	hsa-miR-30d	CLIP-seq
MIRT2605266	hsa-miR-30e	CLIP-seq
MIRT1279599	hsa-miR-3146	CLIP-seq
MIRT1279601	hsa-miR-3163	CLIP-seq
MIRT1279602	hsa-miR-3185	CLIP-seq
MIRT2605268	hsa-miR-3613-3p	CLIP-seq
MIRT2457531	hsa-miR-3653	CLIP-seq
MIRT2457532	hsa-miR-3658	CLIP-seq
MIRT2457533	hsa-miR-3668	CLIP-seq
MIRT1279603	hsa-miR-3674	CLIP-seq
MIRT1279604	hsa-miR-3682-3p	CLIP-seq
MIRT2605271	hsa-miR-380	CLIP-seq
MIRT1279605	hsa-miR-3935	CLIP-seq
MIRT2605272	hsa-miR-4263	CLIP-seq
MIRT2457534	hsa-miR-4270	CLIP-seq
MIRT2457535	hsa-miR-4307	CLIP-seq
MIRT1279608	hsa-miR-431	CLIP-seq
MIRT2457536	hsa-miR-4319	CLIP-seq
MIRT2605273	hsa-miR-4426	CLIP-seq
MIRT2457538	hsa-miR-4441	CLIP-seq
MIRT2605274	hsa-miR-4457	CLIP-seq
MIRT2605275	hsa-miR-4495	CLIP-seq
MIRT1279611	hsa-miR-4502	CLIP-seq
MIRT2605276	hsa-miR-4647	CLIP-seq
MIRT2605277	hsa-miR-4662b	CLIP-seq
MIRT2457544	hsa-miR-4696	CLIP-seq
MIRT2605278	hsa-miR-4703-3p	CLIP-seq
MIRT2605279	hsa-miR-4719	CLIP-seq
MIRT2457545	hsa-miR-4732-3p	CLIP-seq
MIRT2308042	hsa-miR-4735-5p	CLIP-seq
MIRT2457547	hsa-miR-4772-5p	CLIP-seq
MIRT2605280	hsa-miR-4790-3p	CLIP-seq
MIRT2457548	hsa-miR-489	CLIP-seq
MIRT2082550	hsa-miR-491-3p	CLIP-seq
MIRT1279615	hsa-miR-511	CLIP-seq
MIRT1279616	hsa-miR-513a-3p	CLIP-seq
MIRT2605281	hsa-miR-513b	CLIP-seq
MIRT2457549	hsa-miR-514	CLIP-seq
MIRT2457550	hsa-miR-514b-3p	CLIP-seq
MIRT2605282	hsa-miR-520d-5p	CLIP-seq
MIRT2605283	hsa-miR-524-5p	CLIP-seq
MIRT2457551	hsa-miR-548c-3p	CLIP-seq
MIRT2605284	hsa-miR-554	CLIP-seq
MIRT2457552	hsa-miR-556-5p	CLIP-seq
MIRT2457553	hsa-miR-561	CLIP-seq
MIRT1279618	hsa-miR-562	CLIP-seq
MIRT2605285	hsa-miR-576-5p	CLIP-seq
MIRT1279620	hsa-miR-577	CLIP-seq
MIRT1279621	hsa-miR-580	CLIP-seq
MIRT2605286	hsa-miR-586	CLIP-seq
MIRT1279623	hsa-miR-635	CLIP-seq
MIRT2457555	hsa-miR-670	CLIP-seq
MIRT1279624	hsa-miR-7	CLIP-seq
MIRT2605287	hsa-miR-934	CLIP-seq

Show/Hide all(5)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 31515488, 32296183
GO:0005634	Component	Nucleus	IDA	27745833
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0030017	Component	Sarcomere	IDA	27745833
GO:0034599	Process	Cellular response to oxidative stress	IMP	27745833

MIM	HGNC	e!Ensembl
617220	26162	ENSG00000121350

Protein

UniProt ID

Q8WU10

Protein name

Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 (EC 1.8.1.-)

Protein function

Probable FAD-dependent oxidoreductase; involved in the cellular oxidative stress response (PubMed:27745833). Required for normal sarcomere structure and muscle fiber integrity (By similarity). {ECO:0000250|UniProtKB:Q6PBT5, ECO:0000269|PubMed:27

PDB

6ZK7 , 8ORJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07992	Pyr_redox_2	11 → 383	Pyridine nucleotide-disulphide oxidoreductase	Domain
PF18267	Rubredoxin_C	409 → 479	Rubredoxin NAD+ reductase C-terminal domain	Domain

Sequence

MEAARPPPTAGKFVVVGGGIAGVTCAEQLATHFPSEDILLVTASPVIKAVTNFKQISKIL
EEFDVEEQSSTMLGKRFPNIKVIESGVKQLKSEEHCIVTEDGNQHVYKKLCLCAGAKPKL
ICEGNPYVLGIRDTDSAQEFQKQLTKAKRIMIIGNGGIALELVYEIEGCEVIWAIKDKAI
GNTFFDAGAAEFLTSKLIAEKSEAKIAHKRTRYTTEGRKKEARSKSKADNVGSALGPDWH
EGLNLKGTKEFSHKIHLETMCEVKKIYLQDEFRILKKKSFTFPRDHKSVTADTEMWPVYV
ELTNEKIYGCDFIVSATGVTPNVEPFLHGNSFDLGEDGGLKVDDHMHTSLPDIYAAGDIC
TTSWQLSPVWQQMRLWTQARQMGWYAAKCMAAASSGDSIDMDFSFELFAHVTKFFNYKVV
LLGKYNAQGLGSDHELMLRCTKGREYIKVVMQNGRMMGAVLIGETDLEETFENLILNQMN
LSSYGEDLLDPNIDIEDYFD

Sequence length

500

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Muscular dystrophy	Muscular Dystrophy	rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913 View all (15 more)
Myofibrillar myopathy	Myofibrillar Myopathy, MYOPATHY, MYOFIBRILLAR, 8	rs121908333, rs121908334, rs28937597, rs121908457, rs121908458, rs121908460, rs121908461, rs121913000, rs60538473, rs57639980, rs121913003, rs57955682, rs121913004, rs121913005, rs57965306 View all (75 more)	31455395, 27745833, 30345904, 30515627
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)	31455395

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining
Connective Tissue Diseases	Associate	36920481
Contracture	Associate	39973409
Heart Diseases	Associate	36920481
Lung Diseases	Associate	30515627
Muscle Hypotonia	Associate	36920481
Muscle Weakness	Associate	36920481
Muscular Diseases	Associate	30515627, 31455395, 32037607, 36920481, 39973409
Muscular Dystrophies Limb Girdle	Associate	30515627, 31455395
Myofibrillar Myopathy	Associate	30515627
Myotonia Congenita	Associate	31455395, 39973409
Nystagmus Pathologic	Associate	39973409
Panic Disorder	Associate	35477560
Respiratory Insufficiency	Associate	36920481
Sensorimotor neuropathy with ataxia autosomal dominant	Associate	39973409
Urinary Bladder Neurogenic	Associate	39973409

PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1)