KEGG   Homo sapiens (human): 1674
Entry
1674              CDS       T01001                                 
Symbol
DES, CDCD3, CSM1, CSM2, LGMD1D, LGMD1E, LGMD2R
Name
(RefSeq) desmin
  KO
K07610  desmin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01758  Desmosome - Vimentin filaments
N01816  Costamere
N01822  Linker of nucleoskeleton and cytoskeleton (LINC) complex
Disease
H00294  Dilated cardiomyopathy
H00595  Myofibrillar myopathies
H00656  Scapuloperoneal myopathy
H01219  Restrictive cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1674 (DES)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    1674 (DES)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    1674 (DES)
   05414 Dilated cardiomyopathy
    1674 (DES)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    1674 (DES)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filaments
    Type III
     1674 (DES)
SSDB
Motif
Pfam: Filament Filament_head DUF7491 GAS APG6_N DUF1664 MHC_I_3 Trimer_CC Golgin_A5
Other DBs
NCBI-GeneID: 1674
NCBI-ProteinID: NP_001918
OMIM: 125660
HGNC: 2770
Ensembl: ENSG00000175084
UniProt: P17661 Q53SB5
Position
2:219418377..219426734
AA seq 470 aa
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTS
GGAGGLGSLRASRLGTTRTPSSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFA
NYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELRELRRQVEVLTNQRARVDVER
DNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK
KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKV
SDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEA
SGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRINLPI
QTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL
NT seq 1413 nt   +upstreamnt  +downstreamnt
atgagccaggcctactcgtccagccagcgcgtgtcctcctaccgccgcaccttcggcggg
gccccgggcttcccactcggctccccgctgagttcgcccgtgttcccgcgggcgggtttc
ggctctaagggctcctccagctcggtgacgtcccgcgtgtaccaggtgtcgcgcacgtcg
ggcggggccgggggcctggggtcgctgcgggccagccggctggggaccacccgcacgccc
tcctcctacggcgcaggcgagctgctggacttctcactggccgacgcggtgaaccaggag
tttctgaccacgcgcaccaacgagaaggtggagctgcaggagctcaatgaccgcttcgcc
aactacatcgagaaggtgcgcttcctggagcagcagaacgcggcgctcgccgccgaagtg
aaccggctcaagggccgcgagccgacgcgagtggccgagctctacgaggaggagctgcgg
gagctgcggcgccaggtggaggtgctcactaaccagcgcgcgcgcgtcgacgtcgagcgc
gacaacctgctcgacgacctgcagcggctcaaggccaagctgcaggaggagattcagttg
aaggaagaagcagagaacaatttggctgccttccgagcggacgtggatgcagctactcta
gctcgcattgacctggagcgcagaattgaatctctcaacgaggagatcgcgttccttaag
aaagtgcatgaagaggagatccgtgagttgcaggctcagcttcaggaacagcaggtccag
gtggagatggacatgtctaagccagacctcactgccgccctcagggacatccgggctcag
tatgagaccatcgcggctaagaacatttctgaagctgaggagtggtacaagtcgaaggtg
tcagacctgacccaggcagccaacaagaacaacgacgccctgcgccaggccaagcaggag
atgatggaataccgacaccagatccagtcctacacctgcgagattgacgccctgaagggc
actaacgattccctgatgaggcagatgcgggaattggaggaccgatttgccagtgaggcc
agtggctaccaggacaacattgcgcgcctggaggaggaaatccggcacctcaaggatgag
atggcccgccatctgcgcgagtaccaggacctgctcaacgtgaagatggccctggatgtg
gagattgccacctaccggaagctgctggagggagaggagagccggatcaatctccccatc
cagacctactctgccctcaacttccgagaaaccagccctgagcaaaggggttctgaggtc
cataccaagaagacggtgatgatcaagaccatcgagacacgggatggggaggtcgtcagt
gaggccacacagcagcagcatgaagtgctctaa

  All links  
Disease (4)   
   OMIM (4)   
Gene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (10)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (63)   
   RefSeq(nuc) (7)   
   GenBank (28)   
   EMBL (28)   
Protein domain (9)   
   Pfam (9)   
All databases (95)   

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