Ethe1
Gene Detail

Symbol Name ID

Ethe1 ethylmalonic encephalopathy 1 MGI:1913321

Synonyms

0610025L15Rik

Feature Type

protein coding gene

Genetic Map

Chromosome 7

11.66 cM, cytoband A3
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr7:24587543-24608925 bp, + strand From VEGA annotation of GRCm38   21383 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:8622  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ethe1

Human homologs

Human Homolog		ETHE1, ethylmalonic encephalopathy 1
NCBI Gene ID		23474
neXtProt AC		NX_O95571
Human Synonyms		HSCO, YF13H12
Human Chr (Location)		19q13.31; chr19:44010871-44031396 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ETHE1

Alleles and phenotypes

All alleles(7) : Targeted(5) Gene trapped(2)
 

Mice homozygous for a null mutation display premature death with elevated levels of hydrogen sulfide and thiosulfates.

 
Human Diseases Modeled Using Mouse Ethe1 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (7 annotations)

Component	cytoplasm, mitochondrion, ...
Function	hydrolase activity, metal ion binding

External Resources: FuncBase

Expression

cDNA source data(80)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(80) cDNA(80)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000031266 (Evidence)
Ensembl Gene Model	ENSMUSG00000064254 (Evidence)
Entrez Gene	66071 (Evidence)
UniGene	29553
DFCI	TC1577149
NIA Mouse Gene Index	U116750
EC	3.-.-.-
Consensus CDS Project	CCDS20957.1
International Mouse Knockout Project Status	Ethe1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031266	VEGA Gene Model | MGI Sequence Detail	21383	C57BL/6J
transcript	OTTMUST00000077464	VEGA | MGI Sequence Detail	1484	Not Applicable
polypeptide	OTTMUSP00000040964	VEGA | MGI Sequence Detail	254	Not Applicable

All sequences(20) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(43 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001279	Beta-lactamase-like
Protein Ontology	PR:000007218	protein ETHE1, mitochondrial

References

(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(33)