| Type | Description |
|---|---|
| Definition | ATPase H+ transporting V1 subunit H |
| Date | Results | Publications |
|---|---|---|
| 2019-03-02 12:44:00 | Study identified rs1481950 within ATP6V1H influencing human CSF BACE activity, which indicated that ATP6V1H gene may play some roles in the pathogenesis of neurodegenerative diseases such as Alzheimer disease. | 29751835 |
| 2017-10-21 13:12:00 | These data provide evidence that partial loss of ATP6V1H function results in osteoporosis/osteopenia. | 27924156 |
| 2017-05-27 11:04:00 | These studies have uncovered a new, ATP6V1H-mediated pathway that regulates bone formation, and defines a new mechanism of disease that leads to bone loss. We propose that MMP9/MMP13 could be therapeutic targets for patients with this rare genetic disease. | 28158191 |
| 2012-04-26 16:08:00 | A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. | 22360420 |
| 2011-11-26 10:36:00 | ATP6V1H may represent a critical molecular mechanism involved in the development of type 2 diabetes and its compilations through its important regulatory effect on vacuolar-ATPase activity. | 21871445 |
| Type | IDs |
|---|---|
| Synonymous | CGI-11, MSTP042, NBP1, SFD, SFDalpha, SFDbeta, VMA13 |
| Gene |
UniProtKB-ID:
VATH_HUMAN,
B3KUZ7_HUMAN,
A0A024R7U9_HUMAN,
A0A024R7X3_HUMAN
UniprotKB:
Q9UI12,
B3KUZ7,
A0A024R7U9,
A0A024R7X3
UniParc:
UPI000006F1DC,
UPI000037353C,
UPI0000000966
EMBL:
AF132945,
AF113222,
CH471068,
AK098305,
BC025275,
AF298777,
AF112204,
AK022345
Ensembl:
ENSG00000047249
KO:
hsa:51606
|
| Nucleutide sequences |
EMBL-CDS:
AAH25275.1,
EAW86727.1,
AAG39293.1,
AAF17192.1,
AAG22809.1,
AAD27720.1,
BAG51072.1,
BAG53609.1,
EAW86731.1,
EAW86733.1,
EAW86732.1,
EAW86729.1,
EAW86728.1
Gene_ORFName:
CGI-11,
hCG_27354,
hCG_27354
Ensembl_TRS:
ENST00000359530,
ENST00000396774,
ENST00000355221
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000347359,
ENSP00000379995,
ENSP00000352522
RefSeq:
XP_006716518.1,
NP_998785.1,
NP_998784.1,
NP_057025.2,
XP_011515844.1
|
| Others |
UniRef100:
UniRef100_Q9UI12,
UniRef100_A0A024R7X3,
UniRef100_B3KUZ7
UniRef90:
UniRef90_Q8TF11,
UniRef90_Q9UI12
UniRef50:
UniRef50_O46563,
UniRef50_Q9UI12
UniGene:
Hs.491737
CCDS:
CCDS6153.1,
CCDS6154.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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