| Type | Description |
|---|---|
| Definition | ATPase H+ transporting V0 subunit a4 |
| Date | Results | Publications |
|---|---|---|
| 2019-01-26 12:22:00 | a novel heterozygous intronic mutation (c.639 + 1G>A) in the ATP6V0A4 gene was identified along with a heterozygous nonsense variant (c.580C>T, p.Arg194*). | 30256676 |
| 2018-12-22 11:55:00 | The p. P137S and p. R302W mutations in ATP6V1B1 and p. S473F and p. R807X in ATP6V0A4, were novel disease-causing mutations of distal renal tubular acidosis. | 30230413 |
| 2018-09-22 11:48:00 | Distal renal acidosis patient carries two novel mutations, one in each of the genes ATP6V0A4 and ATP6V1B1. | 29024829 |
| 2017-09-30 11:13:00 | The aim of this work was to analyze the prevalence of genetic defects in SLC4A1, ATP6V0A4, and ATP6V1B1 genes and to assess the clinical phenotype of distal renal tubular acidosis patients that are eventually typical of the different genetic forms of the disease. | 28233610 |
| 2016-02-27 11:44:00 | ITM2A expression is positively regulated by signaling and ITM2A expression interferes with autophagic flux by interacting with vacuolar ATPase. | 25951193 |
| Type | IDs |
|---|---|
| Synonymous | A4, ATP6N1B, ATP6N2, RDRTA2, RTA1C, RTADR, STV1, VPH1, VPP2 |
| Gene |
UniProtKB-ID:
VPP4_HUMAN,
A0A024R791_HUMAN
UniprotKB:
Q9HBG4,
A0A024R791
UniParc:
UPI000013CDFD
EMBL:
AC020983,
AF245517,
BC109305,
BC109304,
AK292945,
AC018663,
CH471070,
CH236950
Ensembl:
ENSG00000105929
KO:
hsa:50617
|
| Nucleutide sequences |
EMBL-CDS:
BAF85634.1,
AAG11415.1,
EAL24043.1,
AAI09305.1,
EAW83892.1,
AAI09306.1,
EAW83894.1,
EAW83896.1,
EAW83895.1,
EAW83893.1
Gene_ORFName:
hCG_16392
Ensembl_TRS:
ENST00000393054,
ENST00000353492,
ENST00000645515,
ENST00000310018
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000253856,
ENSP00000308122,
ENSP00000496421,
ENSP00000376774
RefSeq:
XP_005250451.1,
NP_065683.2,
NP_570855.2,
NP_570856.2,
XP_005250450.1
|
| Others |
UniRef100:
UniRef100_Q9HBG4
UniRef90:
UniRef90_Q9HBG4
UniRef50:
UniRef50_Q9HBG4
UniGene:
Hs.98967
CCDS:
CCDS5849.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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