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Summary Expression Gene Literature (237) GO Terms (16) Nucleotides (634) Proteins (39) Interactants (267) Wiki
XB-GENEPAGE-494930
Gene Symbol:
des.1

Gene Name:
desmin, gene 1

Synonyms:
desm , csm1 , csm2 , cmd1l , des.1-b , des.1-a ( Add synonyms , Nomenclature history )

Gene Function:
intermediate filament

Protein Function :
Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and fo...[+]


InterPro :
DES1/DES2 , Sphingolipid d4-desaturase N , FA desaturase dom , IF conserved [+]

Interactants:
Loading ...

Diseases: 


Disease Ontology:
myofibrillar myopathy 1 [+]

OMIM:
CARDIOMYOPATHY, DILATED, 1I; CMD1I [+]

External Links:
1/5
 
Xenbase Gene ID XB-GENE-494931 XB-GENE-494935 XB-GENE-6254678
Gene Symbol des.1 des.1.L des.1.S
Chromosome Chr9 chr9_10L chr9_10S
Molecules X. tropicalis X. laevis.L X. laevis.S
Genomic Sequence Version 10.0 Version 9.1 Version 9.1
CDS Gene model Gene model Gene model
Entrez Gene 394739
446868
379869
mRNA RefSeq NCBI Nucleotide NCBI Nucleotide
Protein NCBI Protein RefSeq  More.. NCBI Protein RefSeq  More.. RefSeq Swiss-Prot  More..
Genomic
 X. tropicalis X. laevis.L X. laevis.S
Genome Browser
(Click image to open in Genome Browser)
Genomic Synteny Genomicus PANTHER
Expression                  Development Stages    Embryonic TissuesAdult Tissues
Summary for
More Information
Xenbase Expression Details In situ images Single cell data at SPRING Ensembl In situ: Single cell: RNA-Seq:
Proteomics X. tropicalis X. laevis.L X. laevis.S
Embryonic Protein Expression Stage profile: Stage profile:
Data Mining X. tropicalis X. laevis.L X. laevis.S
XenMine des.1 des.1.L des.1.S
Orthology
Knowledgebases Entrez Gene Genetic Phenotypes Gene Expression
human
HGNC AGR, OMIM:Gene, GeneCards DES OMIM Ensembl, Allen Brain Atlas, Protein Atlas
mouse
MGI, AGR Des MGI, IMPC Ensembl, Allen Brain Atlas, Eurexpress, MGI
rat
RGD, AGR Des Ensembl
zebrafish
ZFIN, AGR desma ZFIN Ensembl
chicken
GEISHA DES Ensembl
fruit fly
worm
Publications
First Tetanic hyperpolarization of single medullated nerve fibers in sodium and lithium., Am J Physiol 1976  
Most Recent Xenopus SOX5 enhances myogenic transcription indirectly through transrepression., Dev Biol 2018                      
All View All Papers 2 paper(s) referencing morpholinos 2 paper(s) referencing Disease Ontology
Functional Ontologies X. tropicalis X. laevis.L X. laevis.S
GO 12 terms 2 terms 7 terms
PANTHER des.1
KEGG Pathways K07610 K07610 K07610
KOG [DY] Nuclear envelope protein lamin, intermediate filament superfamily
Reagents X. tropicalis X. laevis.L X. laevis.S
CRISPRscan Tracks des.1
Antibodies Des.1 Ab1 Des.1 Ab1 Des.1 Ab1
ORFs des.1 ORF1 des.1.L ORF1 des.1.S ORF1
Clones Horizon Source BioScience Horizon Source BioScience Horizon Source BioScience
Plasmids Addgene Addgene

Symbol legend: Blast sequence    View sequence    Literature or expression images   Hover cursor for info   [+] Expand list