| Type | Description |
|---|---|
| Definition | dystonin |
| Date | Results | Publications |
|---|---|---|
| 2020-05-02 12:31:00 | Disruption of BP230 (BPAG1e)-integrin beta-4 (beta4) binding prevents recruitment of BP230 to hemidesmosomes in keratinocytes. | 31006587 |
| 2020-03-07 12:29:00 | novel biallelic mutations in the DST gene encoding dystonin, a large cytolinker protein of the plakin family, in an adult form of Hereditary sensory and autonomic neuropathies type VI, are reported. | 30371979 |
| 2020-03-07 12:16:00 | FLG and DST support melanoma cell growth in vitro and in vivo. Growth effects of JUP were only evident in vivo, and may be mediated, in part, by enhancing angiogenesis. In addition, growth-promoting effects of FLG and DST in vitro suggest that these genes may also support melanoma cell proliferation through angiogenesis-independent pathways. | 31425296 |
| 2020-01-18 11:52:00 | Our finding suggests that DST alteration may involve in the mechanism of diabetic dementia | 30963337 |
| 2017-07-29 12:57:00 | A report on 2 novel heterozygous mutations in the dystonin (DST) gene from a family with hereditary sensory and autonomic neuropathy type VI. Induced-pluripotent stem cells findings suggest that the dystonin defect might alter proper development of the peripheral nerves | 28468842 |
| Type | IDs |
|---|---|
| Synonymous | BP240, BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, EBSB2, HSAN6, MACF2 |
| Gene |
UniProtKB-ID:
DYST_HUMAN,
B4DSS9_HUMAN,
E9PHM6_HUMAN,
B4DGY0_HUMAN,
Q6P0N6_HUMAN,
F6QMI7_HUMAN
UniprotKB:
Q03001,
B4DSS9,
E9PHM6,
B4DGY0,
Q6P0N6,
F6QMI7
UniParc:
UPI00000715B2,
UPI00001C1576,
UPI00020F7A42,
UPI00017A7C6B,
UPI000002A4F6,
UPI00020F7A43,
UPI00001C1577,
UPI00017A6F1C,
UPI0000237C88,
UPI0001E8F796,
UPI0001929509,
UPI0000169F7F,
UPI0000470A23,
UPI0001CE9367
EMBL:
X58677,
AK096713,
AY032901,
L11690,
AK295864,
AL590005,
AK294830,
AY032900,
M22942,
AK299898,
AK055189,
AK094883,
AL512422,
U04850,
U31850,
M63618,
BC065536,
AF165191,
BC016991,
AF400227,
AB018271,
AF400226,
M69225,
AL137008,
KF458172,
U31851,
AL049215,
AL512448,
AL590037,
AL096710
Ensembl:
ENSG00000151914
KO:
hsa:667
|
| Nucleutide sequences |
EMBL-CDS:
AAA35538.1,
AAD49334.1,
AAL62061.1,
AAH16991.1,
CAA41528.1,
AAA57185.1,
AAK63131.1,
AAA35606.1,
AAA57184.1,
AAA52288.1,
AAC50244.1,
AAC50243.1,
BAH12207.1,
BAC04449.1,
AAL62062.1,
BAA34448.2,
AAK63130.1,
BAB70870.1,
BAC04848.1,
BAG61741.1,
BAG57941.1,
AAH65536.1
Ensembl_TRS:
ENST00000244364,
ENST00000370788,
ENST00000439203,
ENST00000370765,
ENST00000421834,
ENST00000518935,
ENST00000312431
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000359801,
ENSP00000244364,
ENSP00000359824,
ENSP00000404924,
ENSP00000400883,
ENSP00000431003,
ENSP00000307959
RefSeq:
XP_011513127.1,
XP_005249376.1,
NP_001361663.1,
XP_016866711.1,
XP_016866707.1,
XP_016866710.1,
XP_016866695.1,
NP_001361658.1,
XP_016866712.1,
XP_016866694.1,
XP_016866705.1,
NP_001361665.1,
XP_005249372.1,
NP_899236.1,
XP_016866714.1,
XP_016866696.1,
NP_001138241.1,
NP_001714.1,
NP_001361659.1,
XP_016866706.1,
XP_024302298.1,
NP_001373029.1,
XP_016866701.1,
XP_005249381.1,
XP_016866700.1,
XP_005249379.1,
XP_016866702.1,
XP_016866708.1,
XP_011513126.1,
XP_005249375.1,
XP_016866699.1,
XP_016866698.1,
NP_001138242.1,
XP_005249373.1,
XP_005249377.1,
XP_016866709.1,
XP_016866703.1,
NP_056363.2,
XP_005249380.1,
NP_001361651.1,
XP_016866704.1
|
| Others |
UniRef100:
UniRef100_B4DSS9,
UniRef100_B4DGY0,
UniRef100_Q6P0N6,
UniRef100_F6QMI7,
UniRef100_Q03001,
UniRef100_E9PHM6
UniRef90:
UniRef90_Q03001,
UniRef90_B4DGY0,
UniRef90_E9PHM6,
UniRef90_F6QMI7,
UniRef90_A0A087WRB8,
UniRef90_Q6P0N6
UniRef50:
UniRef50_Q91ZU6-2,
UniRef50_Q03001-13,
UniRef50_A0A087WRB8,
UniRef50_Q6P0N6,
UniRef50_Q03001
UniGene:
Hs.604915,
Hs.669931,
Hs.728928,
Hs.735651
CCDS:
CCDS47443.1,
CCDS4959.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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