2. Gene
  3. PYROXD1 - pyridine nucleotide-disulphide oxidoreductase domain 1 Gene

PYROXD1 - pyridine nucleotide-disulphide oxidoreductase domain 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MFM8

Gene ID: 79912 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cellular response to oxidative stress IMP
IMP: Inferred from mutant phenotype
27745833 GOA
Cellular Component GO Annotation Evidence Reference 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11495 PYROXD1 Human Pre-designed siRNA Set A Pre-designed Sets / 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