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6606 SMN1

6606

SMN1

survival of motor neuron 1, telomeric

protein-coding

Homo sapiens

基因描述

Type Description
Definition survival of motor neuron 1, telomeric

研究结论

Date Results Publications
2021-04-17 13:14:00 Bioinformatic analysis of SMN1-ACE/ACE2 interactions hinted at a potential protective effect of spinal muscular atrophy against COVID-19-induced lung injury. 33190150
2021-04-13 10:13:00 Effects of Survival Motor Neuron Protein on Germ Cell Development in Mouse and Human. 33440839
2021-04-13 10:08:00 Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR. 32169315
2021-04-03 13:36:00 Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype. 32659294
2021-03-27 14:40:00 Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype. 33724218

名称对应

Type IDs
Synonymous BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA, SMN, SMNT, T-BCD541, TDRD16A
Gene
UniProtKB-ID: SMN_HUMAN, B4DP61_HUMAN, E7EQZ4_HUMAN
UniprotKB: Q16637, B4DP61, E7EQZ4
UniParc: UPI000002B3D7, UPI0000D4DD69, UPI000002B3D8, UPI00000000BB, UPI00017A77DF, UPI000002B3D9
EMBL: AC244635, U43880, U21914, AC244260, BC062723, U43883, U43878, U43876, U43882, AC004999, BC015308, AC140134, AC044797, AC139494, BC070242, AC005031, AC139834, U43877, AK289669, U80017, U43881, U18423, AK298203, BC000908
Ensembl: ENSG00000275349, ENSG00000172062, ENSG00000273772, ENSG00000277773, ENSG00000205571
KO: hsa:6606, hsa:6607
Nucleutide sequences
EMBL-CDS: AAC83178.1, AAH62723.1, AAH15308.1, AAC50473.1, AAH70242.1, AAA64505.1, AAA66242.1, BAF82358.1, AAC52048.1, AAC62262.1, AAH00908.1, BAG60473.1
Ensembl_TRS: ENST00000629122, ENST00000628353, ENST00000626847, ENST00000611442, ENST00000380742, ENST00000506163, ENST00000503079, ENST00000614610, ENST00000628642, ENST00000627341, ENST00000622739, ENST00000614773, ENST00000624634, ENST00000380741, ENST00000380743, ENST00000618251, ENST00000351205, ENST00000614240, ENST00000380707, ENST00000618661, ENST00000622158, ENST00000514951, ENST00000631131, ENST00000511812, ENST00000625687, ENST00000619658, ENST00000506734, ENST00000625245, ENST00000610814, ENST00000612446, ENST00000506239, ENST00000631104, ENST00000612974, ENST00000628696, ENST00000629741
Protein sequencees
Ensembl_PRO: ENSP00000370083, ENSP00000424926, ENSP00000370118, ENSP00000370117, ENSP00000483515, ENSP00000485595, ENSP00000483768, ENSP00000480906, ENSP00000487421, ENSP00000482966, ENSP00000481427, ENSP00000479279, ENSP00000428128, ENSP00000486152, ENSP00000487206, ENSP00000370119, ENSP00000483819, ENSP00000487029, ENSP00000479920, ENSP00000487015, ENSP00000305857, ENSP00000423298, ENSP00000478583, ENSP00000486922, ENSP00000487289, ENSP00000424282, ENSP00000486268, ENSP00000424799, ENSP00000477738, ENSP00000485830, ENSP00000477720, ENSP00000486030, ENSP00000478274, ENSP00000422679, ENSP00000486539
RefSeq: NP_075012.1, XP_016865275.1, NP_001284644.1, XP_011541899.1, XP_011541898.1, NP_000335.1, XP_011541900.1
Others
UniRef100: UniRef100_E7EQZ4, UniRef100_B4DP61, UniRef100_Q16637
UniRef90: UniRef90_A0A2I3HNG7, UniRef90_Q16637
UniRef50: UniRef50_A0A2K5E5X4, UniRef50_Q16637
UniGene: Hs.535788
CCDS: CCDS54867.1, CCDS34181.1, CCDS4008.1, CCDS75256.1, CCDS4007.1, CCDS34182.1

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