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GENERAL INFORMATION
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Protein class
Protein class the gene product belongs to according to selected gene lists. List of protein classes.
Predicted localization
Protein localization predicted from several bioinformatic algorithms. More info...
Number of transcripts
Number of protein-coding transcribed from this gene as defined by Ensembl.
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Gene name |
ATP6V1H |
Gene description |
ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H |
Protein class |
Predicted intracellular proteins
Transporters |
Predicted localization |
Intracellular |
Number of transcripts |
6 |
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HUMAN PROTEIN ATLAS INFORMATION
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RNA tissue category
The RNA tissue category is based on mRNA expression levels in 32 different tissues ( RNA assay description).
The categories include: tissue enriched, group enriched, tissue enhanced, expressed in all, not detected, and mixed.
RNA tissue category is calculated separately both for internally generated Human Protein Atlas (HPA) RNA-seq data, as
well as RNA-seq data from the Genotype-Tissue Expression ( GTEx) consortium.
Protein evidence
Protein evidence scores are generated from several independent sources
and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence or iv) not available.
Protein localization
A summary of the overall protein expression pattern across the analyzed tissues. The summary is based on knowledge-based
annotation ( Annotation description). For genes pending
knowledge-based annotation, the protein localization refers to the antibody staining pattern.
"RNA-based expert annotation gave inconconclusive results" is shown for genes analyzed with a knowledge-based approach where
available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with
immunohistochemistry-data to yield a reliable estimation of the protein expression profile.
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RNA tissue category |
| HPA: | Expressed in all |
| GTEx: | Expressed in all |
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Protein evidence |
Evidence at protein level |
Protein localization |
Ubiquitous cytoplasmic expression. |
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ANTIBODY RELIABILITY
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Data reliability description
Standardized explanatory sentences with additional information required for full understanding of the
knowledge-based expression profile. Currently, not all genes have been analyzed by knowledge-based
annotation, indicated by "Pending RNA-based expert annotation", when applicable.
Data reliability
Data reliability score ( score description), divided into supportive (premium)
or uncertain (not premium), is based on consistency between the staining pattern of one antibody or several
antibodies with RNA-seq data and available gene/protein characterization data.
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Data reliability
description |
Pending RNA-based expert annotation. |
Data reliability |
Supportive based on 2 antibodies.
HPA023421
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CAB009532
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PROTEIN EXPRESSION OVERVIEW
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Protein expression data is shown for each of the 44 tissues. Color-coding is based on 13 tissue groups, each consisting
of tissues with common functional features. Mouse-over function shows protein score for analyzed cell types found in a
selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in
detail in Assays & annotation.
For genes with available protein data for which a knowledge-based annotation could not be performed, no protein
expression data is displayed in the protein expression data overview, however, all immunohistochemical images are
still available and the annotation data can be found under Primary data.
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GENE INFORMATION
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Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
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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 |
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PROTEIN BROWSER
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The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The
tabs at the top of the protein view section can be used to switch between the different splice variants to which
an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green
bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is
displayed, 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.
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PROTEIN INFORMATION
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The protein information section displays 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 assigned to this protein 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.
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Splice variant |
Ensembl |
UniProt |
Protein class |
Gene ontology |
Length
(aa) |
Molecular mass
(kDa) |
Signal peptide
(predicted) |
Transmembrane regions
(predicted)
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| ATP6V1H-001 |
ENSP00000347359
ENST00000355221
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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}
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Show »
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Transporters
Primary Active Transporters
SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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« Hide
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465 |
54.2 |
No |
0 |
| ATP6V1H-002 |
ENSP00000352522
ENST00000359530
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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}
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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)
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« Hide
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483 |
55.9 |
No |
0 |
| ATP6V1H-004 |
ENSP00000429947
ENST00000520188
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G3V126
Show all »
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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}
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SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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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]
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443 |
51.6 |
No |
0 |
| ATP6V1H-005 |
ENSP00000379995
ENST00000396774
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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}
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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)
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Show »
« Hide
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483 |
55.9 |
No |
0 |
| ATP6V1H-006 |
ENSP00000427835
ENST00000524234
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E5RG49
Show all »
« Hide
E5RG49 [Target identity:100%; Query identity:100%]V-type proton ATPase subunit H {ECO:0000313|Ensembl:ENSP00000427835}
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Show »
« Hide
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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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]
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101 |
11.5 |
No |
0 |
| ATP6V1H-010 |
ENSP00000429786
ENST00000521275
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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}
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Show »
« Hide
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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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]
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102 |
11.7 |
No |
0 |
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