SOD1 superoxide dismutase 1 [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: SOD1provided by VGNC
Official Full Name: superoxide dismutase 1provided by VGNC
Primary source: VGNC:VGNC:46653
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Annotation information: Annotation category: suggests misassembly
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 31

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	31	NC_051835.1 (26654922..26662986)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	31	NC_006613.4 (26528080..26536169)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	31	NC_049252.1 (27118829..27126937)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	31	NC_049291.1 (26600785..26608887)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	31	NC_049772.1 (26612632..26620712)

Chromosome 31 - NC_051835.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Intrinsic structural vulnerability in the hydrophobic core induces species-specific aggregation of canine SOD1 with degenerative myelopathy-linked E40K mutation.
Title: Intrinsic structural vulnerability in the hydrophobic core induces species-specific aggregation of canine SOD1 with degenerative myelopathy-linked E40K mutation.
Degenerative Myelopathy in Hovawart Dogs: Molecular Characterization, Pathological Features and Accumulation of Mutant Superoxide Dismutase 1 Protein.
Title: Degenerative Myelopathy in Hovawart Dogs: Molecular Characterization, Pathological Features and Accumulation of Mutant Superoxide Dismutase 1 Protein.
A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.
Title: A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.
cold storage from 24 h prior to freezing resulted in a decrease in the superoxide dismutase (SOD) activity in the frozen-thawed sperm cells whereas the glucose peroxidase (GPX) activity and tROS levels were not affected.
Title: Effects of cold storage prior to freezing on superoxide dismutase, glutathione peroxidase activities, level of total reactive oxygen species and sperm quality in dogs.
a genomic insertion in intron 2 of SOD1 was found during routine diagnostic testing for canine degenerative myelopathy
Title: Evidence of a genomic insertion in intron 2 of SOD1 causing allelic drop-out during routine diagnostic testing for canine degenerative myelopathy.
The cyclic changes of SOD1 and GPx1 suggest that they may play important roles in endometrial physiology, probably in apoptosis and proliferation.
Title: Distribution of superoxide dismutase 1 and glutathione peroxidase 1 in the cyclic canine endometrium.
Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy
Title: Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy.
The results of this study support the hypothesis that the cytoplasmic accumulation and aggregate formation of the mutant SOD1 protein
Title: Accumulation and aggregate formation of mutant superoxide dismutase 1 in canine degenerative myelopathy.
The SOD1:c.118G>A mutation could be a useful marker for breeding strategies intending to reduce the incidence of Degenerative myelopathy .
Title: Degenerative myelopathy in German Shepherd Dog: comparison of two molecular assays for the identification of the SOD1:c.118G>A mutation.
The frequency of the canine degenerative myelopathy-associated c.118G>A (p.E40K) mutation of SOD1 in healthy Pembroke Welsh Corgis in Japan using conventional and real time PCR methods is reported.
Title: Genotyping assays for the canine degenerative myelopathy-associated c.118G>A (p.E40K) mutation of the SOD1 gene using conventional and real-time PCR methods: a high prevalence in the Pembroke Welsh Corgi breed in Japan.

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General gene information

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Markers

Sod1 (e-PCR), detects polymorphism
- UniSTS:144477

SOD1 (e-PCR), detects polymorphism
- UniSTS:264864

MARC_26673-26674:1036188363:1 (e-PCR)
- UniSTS:269054

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables copper ion binding	IEA Inferred from Electronic Annotation more info	PubMed
enables superoxide dismutase activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in removal of superoxide radicals	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info	PubMed
located_in peroxisome	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: superoxide dismutase [Cu-Zn]

Names: Cu/Zn superoxide dismutase; superoxide dismutase 1 soluble; superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))

NP_001003035.1

EC 1.15.1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001003035.1 → NP_001003035.1 superoxide dismutase [Cu-Zn]

See identical proteins and their annotated locations for NP_001003035.1

Status: PROVISIONAL

Source sequence(s)

AF346417

UniProtKB/Swiss-Prot

Q8WNN6

UniProtKB/TrEMBL

A0A8C0TSN1, A0A8I3PS52

Conserved Domains (1) summary

cd00305
Location:3 → 146

Cu-Zn_Superoxide_Dismutase; Copper/zinc superoxide dismutase (SOD). superoxide dismutases catalyse the conversion of superoxide radicals to molecular oxygen. Three evolutionarily distinct families of SODs are known, of which the copper/zinc-binding family is one. Defects in the ...