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1293 COL6A3

1293

COL6A3

collagen type VI alpha 3 chain

protein-coding

Homo sapiens

基因描述

Type Description
Definition collagen type VI alpha 3 chain

研究结论

Date Results Publications
2021-02-02 13:27:00 Structure of a collagen VI alpha3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations. 32719005
2020-12-12 13:27:00 A Fragment of Collagen Type VI alpha-3 chain is Elevated in Serum from Patients with Gastrointestinal Disorders. 32245981
2020-11-21 13:17:00 COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature. 32037012
2020-09-26 13:05:00 Human endotrophin as a driver of malignant tumor growth. 30896449
2020-08-29 12:49:00 Single cell sequencing revealed the underlying pathogenesis of the development of osteoarthritis. 32640306

名称对应

Type IDs
Synonymous BTHLM1, DYT27, UCMD1
Gene
UniProtKB-ID: CO6A3_HUMAN, Q8N4Z1_HUMAN, B7ZW00_HUMAN, D9ZGF2_HUMAN, Q63HQ4_HUMAN
UniprotKB: P12111, Q8N4Z1, B7ZW00, D9ZGF2, Q63HQ4
UniParc: UPI00000724D7, UPI0001A7AE4E, UPI000044098E, UPI000155D58F, UPI00001413E8, UPI000189A9B7, UPI0000456F39, UPI0000456F3C
EMBL: AC112715, BC171790, BX647500, HM015590, X06196, M20778, BC033174, GQ891485, AK092021, S49432, BC144595, AK304870, M27449, AC112721, X52022, BC150625
Ensembl: ENSG00000163359
KO: hsa:1293
Nucleutide sequences
EMBL-CDS: AAI44596.1, AAY24135.1, CAA29557.1, AAA52057.1, AAB24261.1, AAI50626.1, AAY14906.1, BAG65607.1, BAG52467.1, CAA36267.1, AAH33174.1, AAI71790.1, ADL14511.1, ADO22347.1, CAH56139.1
Ensembl_TRS: ENST00000409809, ENST00000472056, ENST00000392003, ENST00000295550, ENST00000353578, ENST00000392004
Protein sequencees
Ensembl_PRO: ENSP00000315873, ENSP00000375860, ENSP00000386844, ENSP00000418285, ENSP00000375861, ENSP00000295550
RefSeq: XP_016858793.1, XP_024308452.1, XP_006712316.1, NP_476507.3, XP_005246122.1, NP_476505.3, NP_004360.2, NP_476508.2, NP_476506.3, XP_011508876.1
Others
UniRef100: UniRef100_B7ZW00, UniRef100_Q63HQ4, UniRef100_P12111
UniRef90: UniRef90_P12111, UniRef90_P12111-5, UniRef90_P12111-4
UniRef50: UniRef50_P12111, UniRef50_P12111-5
UniGene: Hs.233240
CCDS: CCDS33409.1, CCDS54439.1, CCDS33410.2, CCDS33411.2, CCDS33412.1

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