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 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
LinkDB
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

KEGG   Homo sapiens (human): 7431
Entry
7431              CDS       T01001                                 
Symbol
VIM
Name
(RefSeq) vimentin
  KO
K07606  vimentin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa05169  Epstein-Barr virus infection
hsa05206  MicroRNAs in cancer
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01758  Desmosome - Vimentin filaments
Disease
H01202  Cataract
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    7431 (VIM)
 09160 Human Diseases
  09161 Cancer: overview
   05206 MicroRNAs in cancer
    7431 (VIM)
  09172 Infectious disease: viral
   05169 Epstein-Barr virus infection
    7431 (VIM)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    7431 (VIM)
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    7431 (VIM)
   04147 Exosome [BR:hsa04147]
    7431 (VIM)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Factors involved in mRNA localization
    Factors that have mRNA localization signals
     7431 (VIM)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filaments
    Type III
     7431 (VIM)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of haemopoietic cells  (B-cell, T-cell, DC-cell, reticulocyte, and mast cell)
   7431 (VIM)
  Exosomal proteins of other cancer cells
   7431 (VIM)
SSDB
Motif
Pfam: Filament Filament_head DUF1664 TolA_bind_tri GeBP-like_DBD TPR_MLP1_2 RBD-FIP Laminin_II DUF4515 CENP-F_leu_zip
Other DBs
NCBI-GeneID: 7431
NCBI-ProteinID: NP_003371
OMIM: 193060
HGNC: 12692
Ensembl: ENSG00000026025
UniProt: P08670 V9HWE1
Structure
LinkDB
Position
10:17228241..17237593
AA seq 466 aa
MSTRSVSSSSYRRMFGGPGTASRPSSSRSYVTTSTRTYSLGSALRPSTSRSLYASSPGGV
YATRSSAVRLRSSVPGVRLLQDSVDFSLADAINTEFKNTRTNEKVELQELNDRFANYIDK
VRFLEQQNKILLAELEQLKGQGKSRLGDLYEEEMRELRRQVDQLTNDKARVEVERDNLAE
DIMRLREKLQEEMLQREEAENTLQSFRQDVDNASLARLDLERKVESLQEEIAFLKKLHEE
EIQELQAQIQEQHVQIDVDVSKPDLTAALRDVRQQYESVAAKNLQEAEEWYKSKFADLSE
AANRNNDALRQAKQESTEYRRQVQSLTCEVDALKGTNESLERQMREMEENFAVEAANYQD
TIGRLQDEIQNMKEEMARHLREYQDLLNVKMALDIEIATYRKLLEGEESRISLPLPNFSS
LNLRETNLDSLPLVDTHSKRTLLIKTVETRDGQVINETSQHHDDLE
NT seq 1401 nt   +upstreamnt  +downstreamnt
atgtccaccaggtccgtgtcctcgtcctcctaccgcaggatgttcggcggcccgggcacc
gcgagccggccgagctccagccggagctacgtgactacgtccacccgcacctacagcctg
ggcagcgcgctgcgccccagcaccagccgcagcctctacgcctcgtccccgggcggcgtg
tatgccacgcgctcctctgccgtgcgcctgcggagcagcgtgcccggggtgcggctcctg
caggactcggtggacttctcgctggccgacgccatcaacaccgagttcaagaacacccgc
accaacgagaaggtggagctgcaggagctgaatgaccgcttcgccaactacatcgacaag
gtgcgcttcctggagcagcagaataagatcctgctggccgagctcgagcagctcaagggc
caaggcaagtcgcgcctgggggacctctacgaggaggagatgcgggagctgcgccggcag
gtggaccagctaaccaacgacaaagcccgcgtcgaggtggagcgcgacaacctggccgag
gacatcatgcgcctccgggagaaattgcaggaggagatgcttcagagagaggaagccgaa
aacaccctgcaatctttcagacaggatgttgacaatgcgtctctggcacgtcttgacctt
gaacgcaaagtggaatctttgcaagaagagattgcctttttgaagaaactccacgaagag
gaaatccaggagctgcaggctcagattcaggaacagcatgtccaaatcgatgtggatgtt
tccaagcctgacctcacggctgccctgcgtgacgtacgtcagcaatatgaaagtgtggct
gccaagaacctgcaggaggcagaagaatggtacaaatccaagtttgctgacctctctgag
gctgccaaccggaacaatgacgccctgcgccaggcaaagcaggagtccactgagtaccgg
agacaggtgcagtccctcacctgtgaagtggatgcccttaaaggaaccaatgagtccctg
gaacgccagatgcgtgaaatggaagagaactttgccgttgaagctgctaactaccaagac
actattggccgcctgcaggatgagattcagaatatgaaggaggaaatggctcgtcacctt
cgtgaataccaagacctgctcaatgttaagatggcccttgacattgagattgccacctac
aggaagctgctggaaggcgaggagagcaggatttctctgcctcttccaaacttttcctcc
ctgaacctgagggaaactaatctggattcactccctctggttgatacccactcaaaaagg
acacttctgattaagacggttgaaactagagatggacaggttatcaacgaaacttctcag
catcacgatgaccttgaataa

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