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286 ANK1

286

ANK1

ankyrin 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition ankyrin 1

研究结论

Date Results Publications
2021-01-09 13:34:00 Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report. 33187473
2020-08-01 11:25:00 ANK1 loss-of-function mutations are associated with hereditary spherocytosis. 31016877
2020-06-13 12:35:00 The conserved aspartic acid residue at the C-terminus of the MEC motif for MESA binding to erythrocyte ANK1. 31125575
2020-01-11 10:53:00 By SDS-PAGE and sequenced the ANK1 gene. 31669644
2019-11-30 11:37:00 ANK1 is characterized by region and disease-specific differential DNA methylation in multiple neurodegenerative diseases. 30439595

名称对应

Type IDs
Synonymous ANK, SPH1, SPH2
Gene
UniProtKB-ID: ANK1_HUMAN, B3KX39_HUMAN
UniprotKB: P16157, B3KX39
UniParc: UPI000013D665, UPI0000ED8F3A, UPI0000ED8F3E, UPI0000ED8F39, UPI0000ED8F3D, UPI0000ED8F37, UPI0000ED8F3B, UPI0002AF2031, UPI0000ED8F38, UPI0000ED8F42, UPI000013E44D, UPI000013DF99, UPI00004A2757, UPI000021098D, UPI0000ED8F3C, UPI000013F728, UPI000013EE91, UPI000013EF12, UPI0000ED8F44, UPI0000ED8F3F, UPI000013EF18, UPI0000E4453A, UPI000013F75B, UPI0000ED8F43
EMBL: U50100, U50104, AF005213, U50099, U50126, U50120, AC027702, U50095, M28880, U50094, U50118, AB209418, AK223578, U50115, U50097, U50101, U50125, X16609, U50093, U50133, U50109, U50111, BC030957, U50110, U50131, U50102, U50127, AC113133, BC117121, U50096, U50130, U50106, AK126647, U50107, U50122, U50128, U50119, CH471080, U50124, U50132, U50117, BC014467, U50112, U50121, U50103, U50105, U50123, U50092, U50098, U50129, U50113, U50116, U50114, U50108
Ensembl: ENSG00000029534
KO: hsa:286
Nucleutide sequences
EMBL-CDS: AAC01950.1, AAI17122.1, EAW63243.1, AAH30957.1, EAW63244.1, AAB47805.1, BAD92655.1, CAA34610.1, AAA51732.1, BAD97298.1, CAA34611.1, BAG54351.1
Ensembl_TRS: ENST00000289734, ENST00000522543, ENST00000348036, ENST00000265709, ENST00000347528, ENST00000314214
Protein sequencees
Ensembl_PRO: ENSP00000289734, ENSP00000339620, ENSP00000319123, ENSP00000430368, ENSP00000265709, ENSP00000297744
RefSeq: NP_000028.3, NP_065209.2, XP_016868816.1, NP_065213.2, XP_016868809.1, XP_011542802.1, XP_011542804.1, XP_016868818.1, XP_011542793.1, NP_001135918.1, XP_011542805.1, XP_016868810.1, NP_001135917.1, XP_005273533.1, XP_016868808.1, NP_065211.2, XP_011542792.1, XP_011542806.1, XP_016868814.1, XP_016868815.1, XP_011542798.1, XP_011542807.1, XP_016868812.1, XP_016868811.1, XP_024302896.1, XP_016868817.1, NP_065210.2, XP_016868813.1, NP_065208.2, XP_011542796.1, XP_011542803.1, XP_011542797.1
Others
UniRef100: UniRef100_P16157, UniRef100_B3KX39
UniRef90: UniRef90_P16157, UniRef90_Q02357-2
UniRef50: UniRef50_P16157
UniGene: Hs.654438, Hs.667377, Hs.708861
CCDS: CCDS6121.1, CCDS55227.1, CCDS6119.1, CCDS6122.1, CCDS47849.1, CCDS6120.1

全选

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