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

PYROXD1 - pyridine nucleotide-disulphide oxidoreductase domain 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：吡啶核苷酸二硫化物氧化还原酶结构域 1

种属: Homo sapiens

同用名: MFM8

基因 ID: 79912 | 基因类型: protein coding

关于 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.

功能概要

该基因编码核质吡啶核苷酸二硫化物还原酶 (PNDR) 。 PNDR 是黄素蛋白，可催化其他蛋白质中硫醇残基的吡啶核苷酸依赖性还原。编码的蛋白质属于 I 类吡啶核苷酸二硫化物氧化还原酶家族，但缺乏在其他家族成员中发现的 C 末端二聚化结构域，而是具有 C 末端腈还原酶结构域。它定位于细胞核和横纹肌节室。该基因中自然发生的突变会导致早发性肌病，伴有核内化和肌原纤维解体。该基因的假基因已在 11 号染色体上定义。[RefSeq 提供，2017 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to oxidative stress IMP
IMP: 通过突变表型推断
27745833 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
27745833 GOA
located in sarcomere IDA
IDA: 通过直接分析推断
27745833 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断
蛋白主名 其他名称

pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1

PYROXD1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PYROXD1 Q8WU10 UPRT Homo sapiens Q96BW1
Y2H Pooling
16189514
种属内
PYROXD1 Q8WU10 UPRT Homo sapiens Q96BW1
Y2H Prey Pooling
25416956
种属内
PYROXD1 Q8WU10 UPRT Homo sapiens Q96BW1
Validated Y2H
32296183
种属内
PYROXD1 Q8WU10 UPRT Homo sapiens Q96BW1
Y2H Array
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11495 PYROXD1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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