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6683 SPAST

6683

SPAST

spastin

protein-coding

Homo sapiens

基因描述

Type Description
Definition spastin

研究结论

Date Results Publications
2021-04-17 13:17:00 A newly identified NES sequence present in spastin regulates its subcellular localization and microtubule severing activity. 32979422
2021-01-09 13:29:00 Clinical Characterization of 2 Siblings with a Homozygous Variant. 32389998
2020-11-21 13:24:00 [Identification of gene variant in a pedigree affected with hereditary spastic paraplegia type 4]. 33179235
2020-11-21 13:12:00 Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia. 31594988
2020-09-19 16:25:00 Structure of spastin bound to a glutamate-rich peptide implies a hand-over-hand mechanism of substrate translocation. 31767681

名称对应

Type IDs
Synonymous ADPSP, FSP2, SPG4
Gene
UniProtKB-ID: SPAST_HUMAN, E5KRP6_HUMAN, E5KRP5_HUMAN
UniprotKB: Q9UBP0, E5KRP6, E5KRP5
UniParc: UPI0001951167, UPI0000038A6B, UPI000002B412, UPI0001951166
EMBL: AJ246003, HQ205767, HQ205780, HQ205770, HQ205749, AB029006, HQ205757, HQ205785, HQ205764, HQ205754, HQ205752, HQ205775, HQ205772, HQ205750, HQ205765, AJ246001, HQ205777, HQ205763, HQ205753, HQ205782, CH471053, HQ205762, HQ205779, HQ205766, HQ205784, HQ205760, HQ205748, HQ205751, HQ205783, HQ205773, HQ205769, HQ205747, HQ205755, HQ205756, BC150260, HQ205758, HQ205761, HQ205774, HQ205778, HQ205768, HQ205776, HQ205746, HQ205771, HQ205759, HQ205781
Ensembl: ENSG00000021574
KO: hsa:6683
Nucleutide sequences
EMBL-CDS: AAI50261.1, EAX00462.1, BAA83035.1, CAB60141.1, CAB60208.1, ADP91609.1, ADP91629.1, ADP91593.1, ADP91633.1, ADP91575.1, ADP91579.1, ADP91643.1, ADP91649.1, ADP91635.1, ADP91577.1, ADP91591.1, ADP91623.1, ADP91641.1, ADP91651.1, ADP91611.1, ADP91603.1, ADP91617.1, ADP91615.1, ADP91627.1, ADP91631.1, ADP91613.1, ADP91599.1, ADP91595.1, ADP91647.1, ADP91607.1, ADP91639.1, ADP91585.1, ADP91601.1, ADP91589.1, ADP91637.1, ADP91605.1, ADP91621.1, ADP91597.1, ADP91587.1, ADP91625.1, ADP91645.1, ADP91583.1, ADP91619.1, ADP91581.1, ADP91653.1, ADP91608.1, ADP91638.1, ADP91582.1, ADP91602.1, ADP91604.1, ADP91600.1, ADP91612.1, ADP91588.1, ADP91644.1, ADP91616.1, ADP91578.1, ADP91592.1, ADP91620.1, ADP91646.1, ADP91580.1, ADP91610.1, ADP91576.1, ADP91634.1, ADP91652.1, ADP91598.1, ADP91636.1, ADP91618.1, ADP91590.1, ADP91574.1, ADP91650.1, ADP91614.1, ADP91648.1, ADP91624.1, ADP91594.1, ADP91632.1, ADP91606.1, ADP91642.1, ADP91622.1, ADP91584.1, ADP91628.1, ADP91596.1, ADP91626.1, ADP91586.1, ADP91640.1, ADP91630.1, EAX00461.1
Gene_ORFName: hCG_23080
Ensembl_TRS: ENST00000345662, ENST00000646571, ENST00000642999, ENST00000644954, ENST00000615843, ENST00000315285
Protein sequencees
Ensembl_PRO: ENSP00000496589, ENSP00000495015, ENSP00000494312, ENSP00000340817, ENSP00000480893, ENSP00000320885
RefSeq: NP_001350804.1, XP_011531369.1, NP_055761.2, NP_001364888.1, NP_001350752.1, NP_955468.1
Others
UniRef100: UniRef100_E5KRP6, UniRef100_Q9UBP0
UniRef90: UniRef90_Q9UBP0
UniRef50: UniRef50_Q9UBP0
UniGene: Hs.468091
CCDS: CCDS1778.1, CCDS1779.1

全选

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