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523 ATP6V1A

523

ATP6V1A

ATPase H+ transporting V1 subunit A

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATPase H+ transporting V1 subunit A

研究结论

Date Results Publications
2019-07-13 10:59:00 This study provides evidence that de novo heterozygous ATP6V1A mutations cause a developmental encephalopathy with a pathomechanism that involves perturbations of lysosomal homeostasis and neuronal connectivity. 29668857
2019-01-12 10:06:00 In conclusion, YY1 may play an important regulatory role in ATP6V1A expression with potential mechanistic and clinical implications in gastric cancer. 28592880
2017-05-06 11:31:00 We report biallelic mutations in ATP6V1E1 and ATP6V1A, respectively encoding the E1 and A subunits of the V1 domain of V-ATPase, as a cause of distinct metabolic and multisystemic cutis laxa entities. 28065471
2016-03-12 10:36:00 V1A subunit of V-ATPase has a role in the progression and prognosis of gastric cancer. 25652905
2012-10-27 10:14:00 Data show that the signaling pathway initiates acidosis-induced V-ATPase trafficking in salivary ducts via regulation of Rab11b expression. 22561749

名称对应

Type IDs
Synonymous ARCL2D, ATP6A1, ATP6V1A1, HO68, IECEE3, VA68, VPP2, Vma1
Gene
UniProtKB-ID: VATA_HUMAN
UniprotKB: P38606
UniParc: UPI0000209F8E, UPI000013809A
EMBL: AC079944, AK293804, AF113129, L09235, BT006672, AK314779, CH471052, BC013138, AC108693
Ensembl: ENSG00000114573
KO: hsa:523
Nucleutide sequences
EMBL-CDS: BAG37315.1, AAF14870.1, AAP35318.1, AAH13138.1, EAW79625.1, BAH11601.1, AAA83249.1, EAW79626.1
Ensembl_TRS: ENST00000273398
Protein sequencees
Ensembl_PRO: ENSP00000273398
RefSeq: NP_001681.2
Others
UniRef100: UniRef100_P38606
UniRef90: UniRef90_P38606
UniRef50: UniRef50_P38606
UniGene: Hs.477155
CCDS: CCDS2976.1

全选

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