Sod1 MGI Mouse Gene Detail - MGI:98351 - superoxide dismutase 1, soluble

Sod1 Gene Detail

Symbol

Sod1
Name

superoxide dismutase 1, soluble
Synonyms

B430204E11Rik, Cu(2+)-Zn2+ superoxide dismutase, CuZnSOD, Cu/Zn-SOD, Ipo1, Ipo-1, Sod-1, SODC

Feature Type

protein coding gene
IDs

MGI:98351
NCBI Gene: 20655
Gene Overview

MyGene.info: SOD1

Sequence Map

Chr16:90220742-90226322 bp, + strand
From Ensembl annotation of GRCm38

Mouse Genome Browser
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Sequence

5581 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 51.56 cM, cytoband B5-C3
Mapping Data

56 experiments

Human Ortholog

SOD1, superoxide dismutase 1, soluble

Vertebrate Orthologs

10

Human Ortholog

SOD1, superoxide dismutase 1, soluble
Orthology source: HomoloGene, HGNC
Synonyms

ALS, ALS1, HEL-S-44, homodimer, hSod1, IPOA, SOD
Links

HGNC:11179

NCBI Gene ID: 6647

neXtProt AC: NX_P00441
Chr Location

21q22.11; chr21:31659622-31668931 (+) GRCh38.p2

HomoloGene

Vertebrate Homology Class 392
1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: SOD1
Protein SuperFamily

superoxide dismutase [Cu-Zn]
Gene Tree

Sod1

Diseases

2 with Sod1 mouse models; 1 with human SOD1 associations

Human Disease

Mouse Models

Amyotrophic Lateral Sclerosis 1; ALS1 OMIM: 105400

View 38 models

Glaucoma, Normal Tension, Susceptibility to OMIM: 606657

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

29 with disease annotations

References

136 with disease annotations

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Phenotype Summary

137 phenotypes from 9 alleles in 10 genetic backgrounds
212 phenotypes from multigenic genotypes
5 images
820 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

76
Chemically induced (ENU)

1
Gene trapped

20
Targeted

14
Transgenic

41
Genomic Mutations

6 involving Sod1
Incidental Mutations

Mutagenetix , APF

Homozygous mutants exhibit increased motor neuron loss after axonal injury and enhanced susceptibility to ischemic reperfusion injury. Homozygous females have irregular and small litters, and for some alleles exhibit immature ovarian follicles with few corpora lutea.

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All GO Annotations

129
GO References

47

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

736
Tissues

503
cDNA Data

21
Literature Summary

30

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO
Other Vertebrate Links

Xenbase sod1

ZFIN sod1

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Sod1 interacts with 7 markers (Mir101a, Mir101b, Mir155, ...) View All

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All Sequences

26
RefSeq

2
UniProt

2
CCDS

CCDS37395.1

Ensembl

ENSMUSG00000022982 (Evidence)
NCBI Gene

20655

			Length	Strain/Species	Flank
genomic	ENSMUSG00000022982	Ensembl Gene Model \| MGI Sequence Detail	5581	C57BL/6J	± kb
transcript	ENSMUST00000023707	Ensembl \| MGI Sequence Detail	646	Not Applicable
polypeptide	ENSMUSP00000023707	Ensembl \| MGI Sequence Detail	154	Not Applicable

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SNPs within 2kb

59 from dbSNP Build 142

RFLP

14

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UniProt

2 Sequences
Protein Ontology

PR:000015399 superoxide dismutase [Cu-Zn]
PDB

3GTT, 3GTV, 3LTV
EC

1.15.1.1
InterPro Domains

IPR001424 Superoxide dismutase, copper/zinc binding domain

IPR018152 Superoxide dismutase, copper/zinc, binding site

IPR024134 Superoxide dismutase (Cu/Zn) / superoxide dismutase copper chaperone

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All nucleic 34

Genomic 5

cDNA 24

Primer pair 4

Other 1

Microarray probesets 5

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MGD-MRK-11443, MGD-MRK-11444, MGD-MRK-14483, MGD-MRK-14485, MGI:2441859

Summaries

All 371

Developmental Gene Expression 30

Diseases 136

Gene Ontology 47

Phenotypes 820
Earliest

J:14869 Selander RK, et al., Protein polymorphism and genic heterozygosity in two European subspecies of the house mouse. Evolution. 1969;23:379-90
Latest

J:233087 Dong D, et al., Maternal diabetes triggers DNA damage and DNA damage response in neurulation stage embryos through oxidative stress. Biochem Biophys Res Commun. 2015 Nov 13;467(2):407-12

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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