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1288 COL4A6

1288

COL4A6

collagen type IV alpha 6 chain

protein-coding

Homo sapiens

基因描述

Type Description
Definition collagen type IV alpha 6 chain

研究结论

Date Results Publications
2019-08-24 11:20:00 These findings indicate that alpha112:alpha556 (IV) network, which is the only network that includes the alpha6(IV) chain, is one regulator of KRT10 expression in keratinization of oral mucosal epithelium. 29422532
2018-06-09 10:41:00 although alpha5 and alpha6 (IV) chains are induced in the glomerular basement membrane in autosomal recessive Alport syndrome, their induction does not seem to play a major compensatory role 27377778
2018-03-31 10:14:00 deletion breakpoints in five Alport syndrome-diffuse leiomyomatosis patients and show a contiguous COL4A6/COL4A5 deletion in each case, were characterized. 28275241
2016-12-24 10:03:00 Mutation in COL4A6 gene is associated with gastric cancer peritoneal carcinomatosis. 26811494
2015-09-17 09:50:00 The expression of collagen type IV and its alpha chains (alpha1-6) was investigated in different endothelial cell culture systems in vitro qualitatively and quantitatively. 23551189

名称对应

Type IDs
Synonymous CXDELq22.3, DELXq22.3, DFNX6
Gene
UniProtKB-ID: CO4A6_HUMAN, B2RTX6_HUMAN, A8MXH5_HUMAN, A0A087WZY5_HUMAN, F5H3Q5_HUMAN, B7ZMM7_HUMAN, A8VPY0_HUMAN
UniprotKB: Q14031, B2RTX6, A8MXH5, A0A087WZY5, F5H3Q5, B7ZMM7, A8VPY0
UniParc: UPI000049E122, UPI00015E4D2B, UPI000015FFB9, UPI0001747A81, UPI000189A85D, UPI0002065772, UPI0002065771, UPI000387C996
EMBL: U47000, U46960, AL034369, U46982, U47003, U46996, U47002, U46995, U46970, U46980, U46991, U46999, U46990, U46972, U46967, AL109943, U46998, U46988, U46963, U46985, U46968, U46997, U46965, U46976, U46966, U46973, U46983, U04845, BC144669, U47004, U46975, U47001, U46977, U46987, U46979, U46962, U46974, U46961, U46971, U46964, U46984, L22763, D21337, AL031177, U46981, AL136080, U46959, U46986, CH471120, EU182215, U46978, U46969, U46989, U46993, BC140855, U46994, U46992
Ensembl: ENSG00000197565
KO: hsa:1288
Nucleutide sequences
EMBL-CDS: AAB19039.1, AAA16338.1, AAA19569.2, EAX02688.1, BAA04809.1, AAB19038.1, AAI40856.1, AAI44670.1, ABW24668.1
Ensembl_TRS: ENST00000372216, ENST00000334504, ENST00000394872, ENST00000621266, ENST00000538570
Protein sequencees
Ensembl_PRO: ENSP00000361290, ENSP00000334733, ENSP00000378340, ENSP00000482970, ENSP00000445236
RefSeq: XP_006724680.1, NP_001274689.1, NP_001838.2, NP_378667.1, XP_011529154.1, NP_001274687.1, XP_011529155.1, XP_011529156.1, NP_001274688.1
Others
UniRef100: UniRef100_B7ZMM7, UniRef100_A8MXH5, UniRef100_A0A087WZY5, UniRef100_F5H3Q5, UniRef100_Q14031, UniRef100_A8VPY0, UniRef100_B2RTX6
UniRef90: UniRef90_Q14031, UniRef90_B7ZMM7, UniRef90_Q28274
UniRef50: UniRef50_Q28274, UniRef50_Q14031
UniGene: Hs.145586
CCDS: CCDS14542.1, CCDS14541.1

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