1. Gene
  2. OXR1 - oxidation resistance 1 Gene

OXR1 - oxidation resistance 1 Gene

中文名称:抗氧化性 1

种属: Homo sapiens

同用名: TLDC3; CHEGDD; Nbla00307

基因 ID: 55074 | 基因类型: protein coding

关于 OXR1

Cytogenetic location: 8q23.1 Genomic coordinates (GRCh38): 8:106,270,178-106,752,694 (from NCBI)

This gene has 19 transcripts (splice variants), 222 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 30.5), testis (RPKM 21.8) and 24 other tissues.

功能概要

预测启用氧化还原酶活性。预计参与对氧化应激的反应。预计在几个过程的上游或内部起作用,包括成人步行行为;神经元死亡的负调节;肽基-半胱氨酸 S-亚硝基化的负调控。预测位于线粒体和核仁中。预计活跃于核心。与小脑发育不良/萎缩、癫痫和整体发育迟缓有关。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable oxidoreductase activity. Predicted to be involved in response to oxidative stress. Predicted to act upstream of or within several processes, including adult walking behavior; negative regulation of neuron death; and negative regulation of peptidyl-cysteine S-nitrosylation. Predicted to be located in mitochondrion and nucleolus. Predicted to be active in nucleus. Implicated in cerebellar hyplasia/atrophy, epilepsy, and global developmental delay. [provided by Alliance of Genome Resources, Apr 2022]

OXR1 基因产物(6)

mRNA Protein Name
NM_001198532.1 NP_001185461.1 oxidation resistance protein 1 isoform 3
NM_001198533.2 NP_001185462.1 oxidation resistance protein 1 isoform 4
NM_001198534.1 NP_001185463.1 oxidation resistance protein 1 isoform 5
NM_001198535.1 NP_001185464.1 oxidation resistance protein 1 isoform 6
NM_018002.3 NP_060472.2 oxidation resistance protein 1 isoform 1
NM_181354.4 NP_851999.2 oxidation resistance protein 1 isoform 2
基因本体论
  • 分子功能
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
25416956 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

OXR1 蛋白结构

LysM

LysM: LysM domain (101 - 143)

TLD

TLD: TLD (738 - 873)

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  • 874 a.a.
蛋白主名 其他名称

oxidation resistance protein 1

TBC/LysM-associated domain containing 3

关联疾病

疾病名称 别名
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay

CHEGDD

Cerebellar Hyplasia/Atrophy, Epilepsy, And Global Developmental Delay
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome

Doors Syndrome

Digitorenocerebral Syndrome

Autosomal Recessive Deafness-Onychodystrophy Syndrome

Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome

DOORS

Drc Syndrome

Eronen Syndrome

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Brachydactyly Due To Absence Of Distal Phalanges

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome

Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome

Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome

Deafness, Congenital Onychodystrophy, Recessive Form

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Jaw Cancer

Jaw Neoplasms

Jaw Neoplasm

Neoplasm Of Jaw

Cancer Of Jaw

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus OXR1 RGD RGD:621857
Mus musculus OXR1 MGD MGI:2179326
Macaca mulatta OXR1 VGNC VGNC:75612
Felis catus OXR1 VGNC VGNC:64008
Bos taurus OXR1 VGNC VGNC:55069
Canis familiaris OXR1 VGNC VGNC:44203