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537 ATP6AP1

537

ATP6AP1

ATPase H+ transporting accessory protein 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATPase H+ transporting accessory protein 1

研究结论

Date Results Publications
2021-01-02 12:49:00 Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene. 32058063
2019-02-16 10:54:00 Here we report on the previously unreported finding of CL due to a hemizygous mutation in the gene ATP6AP1 (MIM 300972), a component of the V-ATPase complex that was recently described to cause an X-linked N-glycosylation disorder with liver disease 29192153
2019-02-09 11:59:00 inactivating mutations of ATP6AP1 are likely oncogenic drivers of Granular cell tumors;a genetic link between endosomal pH regulation and tumorigenesis 30166553
2018-09-29 10:43:00 Data indicate V-ATPase Ac45 subunit assembly with immunoglobulin production and cognitive function. 27231034
2017-08-23 10:50:00 ATP6AP1 is somatically mutated in 12% of follicular lymphoma tumors. Mutations clustered around the transmembrane domain. 25713363

名称对应

Type IDs
Synonymous 16A, ATP6IP1, ATP6S1, Ac45, CF2, VATPS1, XAP-3, XAP3
Gene
UniProtKB-ID: VAS1_HUMAN, A0A384MQW4_HUMAN, A0A0C4DGX8_HUMAN
UniprotKB: Q15904, A0A384MQW4, A0A0C4DGX8
UniParc: UPI000016B31D, UPI000013811E
EMBL: AC244090, AK289452, AL136851, CH471172, AK026519, L44140, GQ891289, BC000724, BX936385, AK075284, D16469, BX936347
Ensembl: ENSG00000071553
KO: hsa:537
Nucleutide sequences
EMBL-CDS: EAW72715.1, BAA03938.1, BAF82141.1, BAC11520.1, AAH00724.1, CAB66785.1, ADO22151.1, EAW72714.1
Gene_ORFName: hCG_2008012
Ensembl_TRS: ENST00000369762, ENST00000619046
Protein sequencees
Ensembl_PRO: ENSP00000358777, ENSP00000482243
RefSeq: XP_011529481.1, NP_001174.2
Others
UniRef100: UniRef100_Q15904
UniRef90: UniRef90_Q15904
UniRef50: UniRef50_Q15904
UniGene: Hs.6551, Hs.633817
CCDS: CCDS35451.1

全选

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