DTNA
entrez
1837
canonical
uniprot
Q9Y4J8
canonical
ensembl
ENSG00000134769
resolver
ensp
ENSP00000269192
resolver
ensp
ENSP00000322519
resolver
ensp
ENSP00000336682
resolver
ensp
ENSP00000382064
resolver
ensp
ENSP00000382072
resolver
ensp
ENSP00000405819
resolver
ensp
ENSP00000451516
resolver
ensp
ENSP00000452255
resolver
ensp
ENSP00000467720
resolver
ensp
ENSP00000469121
resolver
ensp
ENSP00000470152
resolver
ensp
ENSP00000470247
resolver
ensp
ENSP00000471783
resolver
ensp
ENSP00000472031
resolver
ensp
ENSP00000473078
resolver
ensp
ENSP00000473119
resolver
ensp
ENSP00000505718
resolver
ensp
ENSP00000505722
resolver
ensp
ENSP00000506659
resolver
ensp
ENSP00000507106
resolver
ensp
ENSP00000507300
resolver
ensp
ENSP00000507995
resolver
ensp
ENSP00000508348
resolver
ensp
ENSP00000524527
resolver
ensp
ENSP00000524528
resolver
ensp
ENSP00000524529
resolver
ensp
ENSP00000524531
resolver
ensp
ENSP00000524532
resolver
ensp
ENSP00000524533
resolver
ensp
ENSP00000524535
resolver
ensp
ENSP00000524536
resolver
ensp
ENSP00000524537
resolver
ensp
ENSP00000524538
resolver
ensp
ENSP00000524540
resolver
ensp
ENSP00000640164
resolver
ensp
ENSP00000640166
resolver
ensp
ENSP00000672526
resolver
ensp
ENSP00000672527
resolver
ensp
ENSP00000672529
resolver
ensp
ENSP00000672532
resolver
ensp
ENSP00000672533
resolver
ensp
ENSP00000721819
resolver
ensp
ENSP00000721821
resolver
ensp
ENSP00000721830
resolver
ensp
ENSP00000721849
resolver
enst
ENST00000444659
resolver
enst
ENST00000679796
resolver
enst
ENST00000680822
resolver
enst
ENST00000681470
resolver
enst
ENST00000684266
resolver
enst
ENST00000854470
resolver
enst
ENST00000854472
resolver
enst
ENST00000854473
resolver
enst
ENST00000854474
resolver
enst
ENST00000854477
resolver
enst
ENST00000854478
resolver
enst
ENST00000854481
resolver
genesymbol
DTNA
resolver
genesymbol_syn
DRP3
resolver
hgnc
HGNC:3057
resolver
uniprot
A0A7P0T9L1
resolver
uniprot
A0A7P0TBH9
resolver
uniprot
A0A7P0Z4D7
resolver
uniprot
A8K541
resolver
uniprot
A8MSZ0
resolver
uniprot
A8MUY4
resolver
uniprot
B4DGS6
resolver
uniprot
B4DIR0
resolver
uniprot
B4DIU8
resolver
uniprot
B7Z3X3
resolver
uniprot
M0QYX6
resolver
uniprot
M0R397
resolver
uniprot
O15332
resolver
uniprot
O15333
resolver
uniprot
O75697
resolver
uniprot
Q13197
resolver
uniprot
Q13198
resolver
uniprot
Q13199
resolver
uniprot
Q13498
resolver
uniprot
Q13499
resolver
uniprot
Q13500
resolver
uniprot
Q59GK7
resolver
uniprot
Q9BS59
resolver
uniprot_entry
A0A7P0T9L1_HUMAN
resolver
uniprot_entry
A0A7P0TBH9_HUMAN
resolver
uniprot_entry
A0A7P0Z4D7_HUMAN
resolver
uniprot_entry
B7Z3X3_HUMAN
resolver
uniprot_entry
DTNA_HUMAN
resolver
uniprot_sec
A8K541
resolver
uniprot_sec
A8MSZ0
resolver
uniprot_sec
A8MUY4
resolver
uniprot_sec
B4DGS6
resolver
uniprot_sec
B4DIR0
resolver
uniprot_sec
B4DIU8
resolver
uniprot_sec
M0QYX6
resolver
uniprot_sec
M0R397
resolver
uniprot_sec
O15332
resolver
uniprot_sec
O15333
resolver
uniprot_sec
O75697
resolver
uniprot_sec
Q13197
resolver
uniprot_sec
Q13198
resolver
uniprot_sec
Q13199
resolver
uniprot_sec
Q13498
resolver
uniprot_sec
Q13499
resolver
uniprot_sec
Q13500
resolver
uniprot_sec
Q59GK7
resolver
uniprot_sec
Q9BS59
resolver
amino_acid_sequence
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSGVMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHPVECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMFPDQPEKPLNLAHIVDTWPPRPVTSMNDTLFSHSVPSSGSPFITRSSPPKDSEVEQNKLLARAAPAFLKGKGIQYSLNVADRLADEHVLIGLYVNMLRNNPSCMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFLAQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG
uniprot
proteins
disease_involvement
DISEASE: Left ventricular non-compaction 1 (LVNC1) [MIM:604169]: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC1 is an autosomal dominant condition. {ECO:0000269|PubMed:11238270, ECO:0000269|PubMed:29118297}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 (MMCKR2) [MIM:620971]: An autosomal dominant muscular disorder characterized by myalgia, muscle cramps and exercise intolerance with variable ages of onset, and persistent elevations of serum creatine kinase levels. Muscle biopsy shows mixed myopathic and dystrophic findings, characterized by fiber size variability, internalized nuclei, and slightly increased extracellular connective tissue and inflammation. {ECO:0000269|PubMed:36799992}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.
uniprot
proteins
mass_dalton
83901
uniprot
proteins
post_translational_modification
PTM: Phosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus. {ECO:0000250}.
uniprot
proteins
protein_family
Dystrobrevin subfamily
uniprot
proteins
protein_family
Dystrophin family
uniprot
proteins
pubmed
10735273
uniprot
proteins
pubmed
10747910
uniprot
proteins
pubmed
11238270
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22577143
uniprot
proteins
pubmed
29118297
uniprot
proteins
pubmed
35148685
uniprot
proteins
pubmed
36799992
uniprot
proteins
pubmed
7844150
uniprot
proteins
pubmed
8576247
uniprot
proteins
pubmed
8845841
uniprot
proteins
pubmed
9701558
uniprot
proteins
sequence_length
743
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Synapse. Cell membrane {ECO:0000250}. Note=In peripheral nerves, colocalizes with MAGEE1 in the Schwann cell membrane. {ECO:0000250}.
uniprot
proteins