PYROXD1 - pyridine nucleotide-disulphide oxidoreductase domain 1 Gene

Also Known as MFM8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79912

About PYROXD1

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:21,437,655-21,471,250 (from NCBI)

This gene has 9 transcripts (splice variants), 201 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 12.4), lymph node (RPKM 11.0) and 25 other tissues.

Summary

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 pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in Other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]

PYROXD1 Products (3)

mRNA	Protein	Name
NM_001350912.2	NP_001337841.1	pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform 2
NM_001350913.2	NP_001337842.1	pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform 3
NM_024854.5	NP_079130.2	pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to oxidative stress	IMP IMP: Inferred from mutant phenotype	27745833	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	27745833	GOA
located in sarcomere	IDA IDA: Inferred from direct assay	27745833	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1

PYROXD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PYROXD1	Q8WU10	UPRT	Homo sapiens	Q96BW1	Y2H Pooling	16189514
Intra	PYROXD1	Q8WU10	UPRT	Homo sapiens	Q96BW1	Y2H Prey Pooling	25416956
Intra	PYROXD1	Q8WU10	UPRT	Homo sapiens	Q96BW1	Validated Y2H	32296183
Intra	PYROXD1	Q8WU10	UPRT	Homo sapiens	Q96BW1	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Myopathy, Myofibrillar, 8	Myofibrillar Myopathy 8 MFM8 Myopathy, Myofibrillar, Type 8
Myopathy, Centronuclear, 4	CNM4 Centronuclear Myopathy 4 Congenital Myopathy With Internal Nuclei And Atypical Cores Centronuclear Myopathy Type 4 Myopathy, Centronuclear, Type 4
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Myasthenic Syndrome, Congenital, 14	Congenital Myasthenic Syndrome 14 CMS14 Cmsta3 Myasthenic Syndrome, Congenital, With Tubular Aggregates 3 Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates Congenital Myasthenic Syndrome 14, With Tubular Aggregates Congenital Myasthenic Syndrome With Tubular Aggregates 3 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3 Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates
Myopathy, Centronuclear, 5	CNM5 Centronuclear Myopathy 5 Myopathy, Centronuclear, Type 5
Myopathy	Muscular Diseases Myopathies
Myopathy, Myofibrillar, 7	Myofibrillar Myopathy 7 MFM7 Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome Myopathy, Myofibrillar, Type 7
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Neu-Laxova Syndrome 2	NLS2
Scapuloperoneal Myopathy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x	Lgmd2x Muscular Dystrophy, Limb-Girdle, Type 2x

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11495	PYROXD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PYROXD1	MGD	MGI:2676395
Canis familiaris	PYROXD1	VGNC	VGNC:49828
Bos taurus	PYROXD1	VGNC	VGNC:33593
Macaca mulatta	PYROXD1	VGNC	VGNC:76545
Rattus norvegicus	PYROXD1	RGD	RGD:1303253
Felis catus	PYROXD1	VGNC	VGNC:64454
Others	PYROXD1	NCBI