KEGG   Homo sapiens (human): 1674
Entry
1674              CDS       T01001                                 

Gene name
DES, CDCD3, CSM1, CSM2, LGMD1D, LGMD1E, LGMD2R
Definition
(RefSeq) desmin
  KO
K07610  desmin
Organism
hsa  Homo sapiens (human)
Pathway
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Disease
H00294  Dilated cardiomyopathy
H00595  Myofibrillar myopathies
H00656  Scapuloperoneal myopathy
H01219  Restrictive cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 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 Spc7 GAS DUF4515 APG6_N Baculo_PEP_C Trimer_CC DUF1664 Jnk-SapK_ap_N TolA_bind_tri Patched Golgin_A5 Prefoldin KASH_CCD CENP-H TACC_C CENP-F_leu_zip
Other DBs
NCBI-GeneID: 1674
NCBI-ProteinID: NP_001918
OMIM: 125660
HGNC: 2770
Ensembl: ENSG00000175084
Vega: OTTHUMG00000058924
Pharos: P17661(Tbio)
UniProt: P17661 Q53SB5
LinkDB
Position
2q35
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

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