|
GENE INFORMATION
? »
|
The gene information section lists the gene name (HUGO Gene Nomenclature Committee ( HGNC) name if available), any approved gene synonyms, Ensembl gene description, and the Entrez gene summary from the National Center for Biotechnology Information.
The chromosomal and cytoband location of the gene according to Ensembl is reported together with the Ensembl gene identifier and Ensembl database version.
The Entrez gene identifier for the gene is also given. If any of the protein products of
the gene is linked to a UniProt KB/SWISS-PROT entry, links to the UniProt and the
neXtProt databases for these proteins are displayed.
There is also a link to the Antibodypedia portal where validation data for antibodies produced by other suppliers
against this gene can be found.
|
Gene name |
ATP6V1H (HGNC Symbol) |
Synonyms |
CGI-11, SFD, SFDalpha, SFDbeta, VMA13 |
Description |
ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H (HGNC Symbol) |
Entrez gene summary |
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] |
Chromosome |
8 |
Cytoband |
q11.23 |
Chromosome location (bp) |
53715557 - 53843558 |
Protein evidence |
Evidence at protein level (all genes) |
Ensembl |
ENSG00000047249 (version 78.38) |
Entrez gene |
51606 |
UniProt |
Q9UI12 (UniProt - Evidence at protein level) |
neXtProt |
NX_Q9UI12 |
Antibodypedia |
ATP6V1H antibodies |
|
|
|
PROTEIN VIEW
? »
|
The protein view displays protein features. The tabs at the top of the protein view section can be used to switch between the different splice variants encoded by this gene. The mouse over function displays additional data for the features in the protein view.
At the top of the protein view, the maximum percent sequence identity of the protein to all other proteins from other human genes is shown, using a sliding window of 10 aa residues
(HsID 10) or 50 aa residues (HsID 50) ( read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS,
SignalP 4.0, and
Phobius
(turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green.
Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed
( read more), and at the bottom of the protein view is the protein scale.
|
|
|
|
PROTEIN INFORMATION
? »
|
The protein information section displays the alternative protein-coding transcripts (splice variants) encoded by this gene, according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant.
The data in the UniProt column can be expanded to show links to all matching
UniProt identifiers for this protein.
The protein classes to which this protein has been assigned are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors
SPOCTOPUS,
SignalP 4.0, and
Phobius) and the number of predicted transmembrane region(s) (according to
MDM) are also reported.
|
Splice variant |
Ensembl |
UniProt |
Protein class |
Gene ontology |
Length (aa) |
Molecular mass (kDa) |
Signal peptide (predicted) |
Transmembrane regions (predicted)
|
ATP6V1H-001 |
ENSP00000347359
ENST00000355221
|
Q9UI12 Show all »
« Hide
Q9UI12 [Direct mapping]V-type proton ATPase subunit H A0A024R7X3 [Target identity:100%; Query identity:100%]ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H, isoform CRA_b {ECO:0000313|EMBL:EAW86729.1} E5RG49 [Target identity:21%; Query identity:100%]V-type proton ATPase subunit H {ECO:0000313|Ensembl:ENSP00000427835} E5RHH0 [Target identity:21%; Query identity:100%]V-type proton ATPase subunit H {ECO:0000313|Ensembl:ENSP00000429786}
|
Show »
« Hide
Transporters Primary Active Transporters SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
Show »
« Hide
|
465 |
54.2 |
No |
0 |
ATP6V1H-002 |
ENSP00000352522
ENST00000359530
|
Q9UI12 Show all »
« Hide
Q9UI12 [Direct mapping]V-type proton ATPase subunit H A0A024R7U9 [Target identity:100%; Query identity:100%]ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H, isoform CRA_a {ECO:0000313|EMBL:EAW86733.1} G3V126 [Target identity:91%; Query identity:100%]ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H, isoform CRA_c {ECO:0000313|EMBL:EAW86730.1}; V-type proton ATPase subunit H {ECO:0000313|Ensembl:ENSP00000429947} E5RHH0 [Target identity:21%; Query identity:100%]V-type proton ATPase subunit H {ECO:0000313|Ensembl:ENSP00000429786} E5RG49 [Target identity:20%; Query identity:100%]V-type proton ATPase subunit H {ECO:0000313|Ensembl:ENSP00000427835}
|
Show »
« Hide
Transporters Primary Active Transporters SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
Show »
« Hide
|
483 |
55.9 |
No |
0 |
ATP6V1H-004 |
ENSP00000429947
ENST00000520188
|
G3V126 Show all »
« Hide
G3V126 [Target identity:100%; Query identity:100%]ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H, isoform CRA_c {ECO:0000313|EMBL:EAW86730.1}; V-type proton ATPase subunit H {ECO:0000313|Ensembl:ENSP00000429947}
|
Show »
« Hide
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
Show »
« Hide
GO:0000221 [vacuolar proton-transporting V-type ATPase, V1 domain] GO:0005488 [binding] GO:0015991 [ATP hydrolysis coupled proton transport] GO:0016820 [hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances] GO:0046961 [proton-transporting ATPase activity, rotational mechanism]
|
443 |
51.6 |
No |
0 |
ATP6V1H-005 |
ENSP00000379995
ENST00000396774
|
Q9UI12 Show all »
« Hide
Q9UI12 [Direct mapping]V-type proton ATPase subunit H A0A024R7U9 [Target identity:100%; Query identity:100%]ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H, isoform CRA_a {ECO:0000313|EMBL:EAW86733.1} G3V126 [Target identity:91%; Query identity:100%]ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H, isoform CRA_c {ECO:0000313|EMBL:EAW86730.1}; V-type proton ATPase subunit H {ECO:0000313|Ensembl:ENSP00000429947} E5RHH0 [Target identity:21%; Query identity:100%]V-type proton ATPase subunit H {ECO:0000313|Ensembl:ENSP00000429786} E5RG49 [Target identity:20%; Query identity:100%]V-type proton ATPase subunit H {ECO:0000313|Ensembl:ENSP00000427835}
|
Show »
« Hide
Transporters Primary Active Transporters SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
Show »
« Hide
|
483 |
55.9 |
No |
0 |
ATP6V1H-006 |
ENSP00000427835
ENST00000524234
|
E5RG49 Show all »
« Hide
E5RG49 [Target identity:100%; Query identity:100%]V-type proton ATPase subunit H {ECO:0000313|Ensembl:ENSP00000427835}
|
Show »
« Hide
Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
Show »
« Hide
GO:0000221 [vacuolar proton-transporting V-type ATPase, V1 domain] GO:0005488 [binding] GO:0015991 [ATP hydrolysis coupled proton transport] GO:0046961 [proton-transporting ATPase activity, rotational mechanism]
|
101 |
11.5 |
No |
0 |
ATP6V1H-010 |
ENSP00000429786
ENST00000521275
|
E5RHH0 Show all »
« Hide
E5RHH0 [Target identity:100%; Query identity:100%]V-type proton ATPase subunit H {ECO:0000313|Ensembl:ENSP00000429786} E5RG49 [Target identity:99%; Query identity:100%]V-type proton ATPase subunit H {ECO:0000313|Ensembl:ENSP00000427835}
|
Show »
« Hide
Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
|
Show »
« Hide
GO:0000221 [vacuolar proton-transporting V-type ATPase, V1 domain] GO:0005488 [binding] GO:0015991 [ATP hydrolysis coupled proton transport] GO:0046961 [proton-transporting ATPase activity, rotational mechanism]
|
102 |
11.7 |
No |
0 |
|
|
|
|
|