Type | Description |
---|---|
Definition | ATPase H+ transporting accessory protein 1 |
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 |
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
|
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Refseq |
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