Homo sapiens (human): 1837
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Entry
1837 CDS
T01001
Symbol
DTNA, D18S892E, DRP3, DTN, DTN-A, LVNC1, MMCKR2
Name
(RefSeq) dystrobrevin alpha
KO
K26998
dystrobrevin alpha
Organism
hsa
Homo sapiens (human)
Pathway
hsa04820
Cytoskeleton in muscle cells
hsa05410
Hypertrophic cardiomyopathy
hsa05412
Arrhythmogenic right ventricular cardiomyopathy
hsa05414
Dilated cardiomyopathy
hsa05416
Viral myocarditis
Network
nt06539
Cytoskeleton in muscle cells
Element
N00465
Deleted DMD to dystrophin-associated protein complex
N01816
Costamere
Disease
H01216
Left ventricular noncompaction
H02791
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09140 Cellular Processes
09142 Cell motility
04820 Cytoskeleton in muscle cells
1837 (DTNA)
09160 Human Diseases
09166 Cardiovascular disease
05410 Hypertrophic cardiomyopathy
1837 (DTNA)
05412 Arrhythmogenic right ventricular cardiomyopathy
1837 (DTNA)
05414 Dilated cardiomyopathy
1837 (DTNA)
05416 Viral myocarditis
1837 (DTNA)
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Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
EF-hand_2
EF-hand_3
ZZ
SOGA
Seryl_tRNA_N
IATP
ANCHR-like_BBOX
Motif
Other DBs
NCBI-GeneID:
1837
NCBI-ProteinID:
NP_001381
OMIM:
601239
HGNC:
3057
Ensembl:
ENSG00000134769
UniProt:
Q9Y4J8
Structure
PDB
PDBj
LinkDB
All DBs
Position
18:34493312..34891844
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AA seq
743 aa
AA seq
DB search
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIE
ALRENALNNLDPNTELNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFD
PEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSGVMVYGRYDQFLREVLKLPTA
VFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLT
NALSKSLSCASSREPLHPMFPDQPEKPLNLAHIVDTWPPRPVTSMNDTLFSHSVPSSGSP
FITRSSPPKDSEVEQNKLLARAAPAFLKGKGIQYSLNVADRLADEHVLIGLYVNMLRNNP
SCMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELE
NKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRR
ELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGD
VQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLV
PSPTSEKAFLAQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLEN
ELQMEEYLKQKLQDEAYQVSLQG
NT seq
2232 nt
NT seq
+upstream
nt +downstream
nt
atgattgaagatagtgggaaaagaggaaataccatggcagaaagaagacagctgtttgca
gagatgagggctcaagatctggatcgcatccgactctccacctacagaacagcatgcaag
cttaggtttgttcagaagaaatgcaatttgcacctggtggacatatggaatgtcatagaa
gcattgcgggaaaatgctctgaacaacctggacccaaacactgaactcaacgtgtcccgc
ttagaggctgtgctctccactattttttaccagctcaacaaacggatgccaaccactcac
caaatccatgtggagcagtccatcagcctcctccttaacttcctgcttgcagcgtttgat
ccggaaggccatggtaaaatttcagtatttgctgtcaaaatggctttagccacattgtgt
ggagggaagatcatggacaaattaagatatattttctcaatgatttctgactccagtggg
gtgatggtttatggacgatatgaccaattccttcgggaagttctcaaactacccacggca
gtttttgaaggtccttcatttggttacacagaacagtcagccagatcctgtttctcccaa
cagaaaaaagtcacgttaaatggtttcttggacacgcttatgtcagatcctcccccgcag
tgtctggtctggttgcctcttctgcatcgactagcaaatgtggaaaatgtcttccatccg
gttgagtgttcctactgccacagtgagagtatgatgggatttcgctaccgatgccaacag
tgtcacaattaccagctctgtcaggactgcttctggaggggacatgccggtggttctcat
agcaaccagcaccaaatgaaagagtacacgtcatggaaatcacctgctaagaagctgact
aatgcattaagcaagtccctgagctgtgcttccagccgtgaacctttgcaccccatgttc
ccagatcagcctgagaagccactcaacttggctcacatcgttgatacttggcctcccaga
cctgtaaccagcatgaacgacaccctgttctcccactctgttccctcctcaggaagtcct
tttattaccaggagctctcctcccaaggacagtgaagtagagcagaacaaactgctggct
agggctgctccagcttttctgaagggcaaagggatacagtacagcctgaatgtggcagac
aggctagctgatgaacatgttctcatcgggttgtatgtcaacatgctccggaacaacccc
tcatgcatgcttgagagttcaaaccggcttgatgaagaacacaggctaattgccaggtat
gcggcaaggctggcagcagagtcctcttcgtctcagccacctcagcagagaagtgctcct
gacatctctttcaccatcgatgcgaataagcagcaaaggcagctgattgctgagctagaa
aacaagaacagagaaatcttacaggagatccagagacttcggctagagcatgaacaagct
tctcagcccacgccagagaaggcacagcaaaaccccaccctgctggcagaactccggctc
ctcagacagcgcaaagatgagctggaacagagaatgtctgctctccaggagagccggaga
gagctaatggtccagttggagggtctcatgaagctactaaagactcagggggcaggctct
ccccgctcctcccccagccacaccatcagcaggccaattcccatgcccatccggtcagcg
tcagcctgctccaccccgacgcacacgccgcaggactccctcacaggagtagggggagat
gtacaagaggcatttgcacaaagttcaagaagaaacttaaggaatgacttgctagtggct
gcagattccatcactaacactatgtcctctcttgtgaaagagctgaattctgaggttggg
agtgaaacagagagtaatgtggattctgaatttgcacggactcagtttgaggatcttgtt
ccctcaccaacctctgaaaaggcttttctagcgcaaatccatgcccgaaaacctgggtac
attcacagtggagctaccacaagtaccatgcgtggcgacatggttacggaggatgcagat
ccctatgtgcagcctgaagatgaaaactatgaaaatgactctgtccggcagctggagaat
gagctccagatggaggaatacctgaaacagaagctgcaagatgaagcttatcaggtcagc
ttgcaaggttga
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