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495 ATP4A

495

ATP4A

ATPase H+/K+ transporting subunit alpha

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATPase H+/K+ transporting subunit alpha

研究结论

Date Results Publications
2018-10-20 10:35:00 ATP4A antibodies were present in a significant proportion of children with type 1 diabetes (T1D). Higher ATP4A levels in T1D children are associated with lower, yet still fitting within the normal range, levels of vitamin B12, and ferritin. 28401620
2018-06-16 11:28:00 Heterozygous mutations in the ATP4A and PTH1R genes were identified in a family with type I gastric neuroendocrine tumors plus hypothyroidism and rheumatoid arthritis 28474257
2017-12-09 10:10:00 the generation and characterization of a knockin mouse model for the ATP4a(R703C) mutation to better understand the tumorigenesis process. 27491072
2017-01-28 11:09:00 In conclusion, patients homozygous for an inactivating ATP4A mutation develop gastric ECL-cell carcinoids in their 3rd or 4th decade. 27150581
2016-01-30 11:33:00 Homozygous missense mutation in the 14th exon of the ATP4A gene (c.2107C>T) is responsible for an atypical familial type I gastric neuroendocrine tumour. 25678551

名称对应

Type IDs
Synonymous ATP6A
Gene
UniProtKB-ID: ATP4A_HUMAN, A0A384MR29_HUMAN, Q658V6_HUMAN
UniprotKB: P20648, A0A384MR29, Q658V6
UniParc: UPI0000373F5A, UPI000016A49B
EMBL: J05451, AL832971, AD000090, GQ891529, M27575, AC002389, M63962
Ensembl: ENSG00000105675
KO: hsa:495
Nucleutide sequences
EMBL-CDS: AAB50172.1, AAA35577.1, AAB64182.1, AAA51010.1, AAA35988.1, ADO22391.1, CAH56338.1
Ensembl_TRS: ENST00000262623
Protein sequencees
Ensembl_PRO: ENSP00000262623
RefSeq: NP_000695.2
Others
UniRef100: UniRef100_P20648, UniRef100_Q658V6
UniRef90: UniRef90_P20648
UniRef50: UniRef50_P13607-7
UniGene: Hs.36992
CCDS: CCDS12467.1

全选

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