OXR1 - oxidation resistance 1 Gene

Also Known as TLDC3; CHEGDD; Nbla00307

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55074

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 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

OXR1 Protein Structure

LysM

LysM: LysM domain (101 - 143)

TLD

TLD: TLD (738 - 873)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 874 a.a.
Protein Preferred Names Protein Names

oxidation resistance protein 1

  • TBC/LysM-associated domain containing 3

OXR1 Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P811156 OXR1 Antibody WB, IHC-P, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
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
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 (5)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-108683 ACT-335827 Antagonist 98.0% Unkown
HY-RS06051 HCRTR1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS09890 OXR1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20317 Oxr1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26825 Oxr1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others OXR1 NCBI