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1760 DMPK

1760

DMPK

DM1 protein kinase

protein-coding

Homo sapiens

基因描述

Type Description
Definition DM1 protein kinase

研究结论

Date Results Publications
2020-10-31 13:14:00 Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test. 31164682
2020-10-10 13:02:00 DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies. 31936870
2020-04-04 12:43:00 Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes. 31220271
2020-02-01 11:01:00 These results suggest the existence of p53-p73-DMPK axis which mediates DNA-damage induced actomyosin contraction at the cortex and concomitant cell death. 31480541
2019-10-05 11:15:00 The abnormal expansion of CTG repeats in the 3'-UTR of the DMPK gene elicits Myotonic Dystrophy 1, whereas elongated CCTG repeats in intron 1 of ZNF9 triggers Myotonic Dystrophy 2. 29651162

名称对应

Type IDs
Synonymous DM, DM1, DM1PK, DMK, MDPK, MT-PK
Gene
UniProtKB-ID: DMPK_HUMAN, E5KR07_HUMAN, B4DZE2_HUMAN, I6L989_HUMAN, B4DM55_HUMAN, E5KR06_HUMAN, E5KR05_HUMAN
UniprotKB: Q09013, E5KR07, B4DZE2, I6L989, B4DM55, E5KR06, E5KR05
UniParc: UPI0001AE4F1D, UPI0000EE6DD1, UPI0001AE4F20, UPI000056D3DB, UPI0001AE4F1C, UPI0002374A3E, UPI00017A8321, UPI000013E038, UPI00017A7548, UPI0001AE4F1E, UPI0000366E2D, UPI00001AF19C, UPI000059D74F, UPI0000223FEB, UPI0001AE4F1F
EMBL: HQ205631, CH471126, HQ205656, L08835, HQ205633, HQ205639, HQ205635, HQ205637, M94203, U46546, HQ205626, HQ205661, HQ205645, BC026328, HQ205630, AK302874, L19266, HQ205643, HQ205654, HQ205665, HQ205641, HQ205655, HQ205649, HQ205634, HQ205650, S72883, KJ534827, HQ205648, HQ205658, BC062553, L00727, HQ205657, HQ205647, HQ205651, HQ205640, AK297299, HQ205659, HQ205653, L19268, HQ205628, HQ205660, M87312, HQ205629, HQ205638, HQ205646, HQ205652, HQ205662, HQ205663, HQ205644, HQ205642, HQ205632, HQ205636, HQ205627, HQ205664
Ensembl: ENSG00000104936
KO: hsa:1760
Nucleutide sequences
EMBL-CDS: ADP91433.1, ADP91361.1, ADP91369.1, AAA87583.1, ADP91393.1, ADP91377.1, ADP91437.1, AAA64884.1, ADP91469.1, ADP91353.1, ADP91477.1, ADP91413.1, ADP91365.1, ADP91457.1, ADP91405.1, ADP91341.1, AAA36205.1, AAB31800.1, ADP91441.1, ADP91453.1, ADP91493.1, AAA75239.1, ADP91357.1, ADP91345.1, ADP91421.1, AAA75240.1, AAH62553.1, ADP91385.1, AAA75235.1, ADP91401.1, AAA75237.1, AAC14449.1, AAA75236.1, ADP91417.1, AAC14451.1, ADP91473.1, ADP91449.1, ADP91489.1, ADP91337.1, AAA36206.1, ADP91445.1, AAC14448.1, ADP91485.1, ADP91465.1, ADP91429.1, ADP91481.1, EAW57382.1, ADP91389.1, ADP91349.1, ADP91381.1, AHW56467.1, ADP91425.1, ADP91397.1, ADP91461.1, AAA75238.1, AAC14450.1, EAW57380.1, ADP91373.1, ADP91409.1, ADP91471.1, ADP91379.1, ADP91395.1, ADP91479.1, ADP91339.1, ADP91387.1, ADP91443.1, ADP91427.1, ADP91483.1, ADP91375.1, ADP91367.1, ADP91491.1, ADP91475.1, ADP91343.1, ADP91351.1, ADP91407.1, ADP91415.1, ADP91371.1, ADP91423.1, ADP91399.1, ADP91435.1, ADP91451.1, ADP91463.1, ADP91383.1, ADP91403.1, ADP91455.1, ADP91335.1, ADP91487.1, ADP91363.1, ADP91355.1, ADP91439.1, ADP91431.1, ADP91347.1, EAW57385.1, ADP91467.1, ADP91459.1, ADP91411.1, ADP91359.1, ADP91447.1, ADP91391.1, ADP91419.1, BAG64054.1, AAH26328.1, BAG59767.1, ADP91408.1, ADP91416.1, ADP91432.1, ADP91380.1, ADP91372.1, ADP91404.1, ADP91336.1, ADP91428.1, ADP91384.1, ADP91452.1, ADP91484.1, ADP91344.1, ADP91480.1, ADP91456.1, ADP91340.1, ADP91444.1, ADP91492.1, ADP91360.1, ADP91348.1, ADP91412.1, ADP91400.1, ADP91392.1, ADP91436.1, ADP91448.1, ADP91476.1, ADP91388.1, ADP91472.1, ADP91420.1, ADP91364.1, ADP91440.1, ADP91356.1, ADP91488.1, ADP91464.1, ADP91396.1, ADP91468.1, ADP91352.1, ADP91424.1, ADP91460.1, ADP91368.1, ADP91376.1, ADP91374.1, ADP91430.1, ADP91486.1, ADP91334.1, ADP91346.1, ADP91450.1, ADP91418.1, ADP91358.1, ADP91462.1, ADP91362.1, ADP91446.1, ADP91414.1, ADP91402.1, ADP91342.1, ADP91370.1, ADP91426.1, ADP91442.1, ADP91474.1, ADP91438.1, ADP91354.1, ADP91482.1, ADP91478.1, ADP91458.1, ADP91378.1, ADP91350.1, ADP91406.1, ADP91466.1, ADP91470.1, ADP91490.1, ADP91386.1, ADP91338.1, ADP91394.1, ADP91366.1, ADP91398.1, ADP91434.1, ADP91382.1, ADP91410.1, ADP91390.1, ADP91454.1, ADP91422.1
Gene_ORFName: hCG_1996612
Ensembl_TRS: ENST00000458663, ENST00000354227, ENST00000447742, ENST00000291270, ENST00000343373, ENST00000618091
Protein sequencees
Ensembl_PRO: ENSP00000401753, ENSP00000413417, ENSP00000482746, ENSP00000345997, ENSP00000346168, ENSP00000291270
RefSeq: NP_001075032.1, NP_001075029.1, NP_001275695.1, NP_001275693.1, NP_001075031.1, NP_001275694.1, NP_004400.4
Others
UniRef100: UniRef100_E5KR07, UniRef100_B4DZE2, UniRef100_I6L989, UniRef100_E5KR05, UniRef100_B4DM55, UniRef100_Q09013
UniRef90: UniRef90_A0A2K5P066, UniRef90_Q09013, UniRef90_A0A2I3S1L9, UniRef90_E5KR05
UniRef50: UniRef50_Q09013, UniRef50_P54265-8
UniGene: Hs.631596
CCDS: CCDS46119.1, CCDS46118.1, CCDS74400.1, CCDS12674.1, CCDS46117.1

全选

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