Homo sapiens (human): 1674
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Entry
1674 CDS
T01001
Symbol
DES, CDCD3, CSM1, CSM2, LGMD1D, LGMD1E, LGMD2R
Name
(RefSeq) desmin isoform 1
KO
K07610
desmin
Organism
hsa
Homo sapiens (human)
Pathway
hsa04519
Cadherin signaling
hsa04820
Cytoskeleton in muscle cells
hsa05410
Hypertrophic cardiomyopathy
hsa05412
Arrhythmogenic right ventricular cardiomyopathy
hsa05414
Dilated cardiomyopathy
Network
nt06539
Cytoskeleton in muscle cells
nt06549
Cadherin signaling
Element
N01758
Desmosome - Vimentin filaments
N01816
Costamere
N01822
Linker of nucleoskeleton and cytoskeleton (LINC) complex
N02008
Desmosome maturation
Disease
H00294
Dilated cardiomyopathy
H00595
Myofibrillar myopathies
H00656
Scapuloperoneal myopathy
H01219
Restrictive cardiomyopathy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09130 Environmental Information Processing
09133 Signaling molecules and interaction
04519 Cadherin signaling
1674 (DES)
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
Ortholog
Paralog
GFIT
Motif
Pfam:
Filament
Filament_head
ZK652
DUF7491
DUF8429
KIF21A_4th
CCDC89
GAS
CCDC57_N
APG6_N
Phage_scaffold
DUF1664
PPi_PEPCK_C
COLEC12
MHC_I_3
Trimer_CC
ANG-1
CLIP1
FKBP15
SPC25_N
Golgin_A5
CEP89
Motif
Other DBs
NCBI-GeneID:
1674
NCBI-ProteinID:
NP_001918
OMIM:
125660
HGNC:
2770
Ensembl:
ENSP00000363071.3
UniProt:
P17661
LinkDB
All DBs
Position
2:219418377..219426734
Genome browser
AA seq
470 aa
AA seq
DB search
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTS
GGAGGLGSLRASRLGTTRTPSSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFA
NYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELRELRRQVEVLTNQRARVDVER
DNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK
KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKV
SDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEA
SGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRINLPI
QTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL
NT seq
1413 nt
NT seq
+upstream
nt +downstream
nt
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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