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Entry version 169 (16 Oct 2019)
Sequence version 2 (18 Mar 2008)
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Protein

V-type proton ATPase 116 kDa subunit a isoform 2

Gene

ATP6V0A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe2+ prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).3 Publications

Caution

The N-terminal peptide may increase IL1B secretion by peripheral blood monocytes; however as this region is probably in the cytosol, the in vivo relevance of this observation needs to be confirmed.Curated

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processHydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:G66-33375-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.6.3.6 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1222556 ROS and RNS production in phagocytes
R-HSA-77387 Insulin receptor recycling
R-HSA-917977 Transferrin endocytosis and recycling
R-HSA-983712 Ion channel transport

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
V-type proton ATPase 116 kDa subunit a isoform 2
Short name:
V-ATPase 116 kDa isoform a2
Alternative name(s):
Lysosomal H(+)-transporting ATPase V0 subunit a2
TJ6
Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18481 ATP6V0A2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611716 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y487

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 393CytoplasmicSequence analysisAdd BLAST393
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei394 – 412HelicalSequence analysisAdd BLAST19
Topological domaini413 – 414VacuolarSequence analysis2
Transmembranei415 – 431HelicalSequence analysisAdd BLAST17
Topological domaini432 – 445CytoplasmicSequence analysisAdd BLAST14
Transmembranei446 – 475HelicalSequence analysisAdd BLAST30
Topological domaini476 – 549VacuolarSequence analysisAdd BLAST74
Transmembranei550 – 569HelicalSequence analysisAdd BLAST20
Topological domaini570 – 587CytoplasmicSequence analysisAdd BLAST18
Transmembranei588 – 608HelicalSequence analysisAdd BLAST21
Topological domaini609 – 651VacuolarSequence analysisAdd BLAST43
Transmembranei652 – 671HelicalSequence analysisAdd BLAST20
Topological domaini672 – 739CytoplasmicSequence analysisAdd BLAST68
Transmembranei740 – 764HelicalSequence analysisAdd BLAST25
Topological domaini765 – 785VacuolarSequence analysisAdd BLAST21
Transmembranei786 – 824HelicalSequence analysisAdd BLAST39
Topological domaini825 – 856CytoplasmicSequence analysisAdd BLAST32

Keywords - Cellular componenti

Cell membrane, Endosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cutis laxa, autosomal recessive, 2A (ARCL2A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases.
Related information in OMIM
Wrinkly skin syndrome (WSS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay.
Related information in OMIM

Organism-specific databases

DisGeNET

More...
DisGeNETi
23545

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
ATP6V0A2

MalaCards human disease database

More...
MalaCardsi
ATP6V0A2
MIMi219200 phenotype
278250 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000185344

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
357074 Autosomal recessive cutis laxa type 2, classic type
2834 Wrinkly skin syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA38549

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y487

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ATP6V0A2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
172046607

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001192161 – 856V-type proton ATPase 116 kDa subunit a isoform 2Add BLAST856

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi484N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi505N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei695PhosphoserineCombined sources1
Modified residuei700PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y487

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y487

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y487

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9Y487

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9Y487

PeptideAtlas

More...
PeptideAtlasi
Q9Y487

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y487

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
86130

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1898

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y487

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9Y487

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9Y487

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000185344 Expressed in 187 organ(s), highest expression level in small intestine Peyer's patch

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y487 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y487 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA044279

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''. Directly interacts with PSCD2 through its N-terminal cytosolic tail in an intra-endosomal acidification-dependent manner (PubMed:16415858). Disruption of this interaction results in the inhibition of endocytosis (PubMed:16415858).

Interacts with SPAAR (PubMed:28024296).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
CYTH2Q994182EBI-988630,EBI-448974

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117089, 73 interactors

Protein interaction database and analysis system

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IntActi
Q9Y487, 49 interactors

Molecular INTeraction database

More...
MINTi
Q9Y487

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000332247

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the V-ATPase 116 kDa subunit family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2189 Eukaryota
COG1269 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000182881

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000037059

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y487

KEGG Orthology (KO)

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KOi
K02154

Identification of Orthologs from Complete Genome Data

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OMAi
VKFCPFS

Database of Orthologous Groups

More...
OrthoDBi
181796at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y487

TreeFam database of animal gene trees

More...
TreeFami
TF300346

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002490 V-ATPase_116kDa_su
IPR026028 V-type_ATPase_116kDa_su_euka

The PANTHER Classification System

More...
PANTHERi
PTHR11629 PTHR11629, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01496 V_ATPase_I, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF001293 ATP6V0A1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q9Y487-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGSLFRSETM CLAQLFLQSG TAYECLSALG EKGLVQFRDL NQNVSSFQRK
60 70 80 90 100
FVGEVKRCEE LERILVYLVQ EINRADIPLP EGEASPPAPP LKQVLEMQEQ
110 120 130 140 150
LQKLEVELRE VTKNKEKLRK NLLELIEYTH MLRVTKTFVK RNVEFEPTYE
160 170 180 190 200
EFPSLESDSL LDYSCMQRLG AKLGFVSGLI NQGKVEAFEK MLWRVCKGYT
210 220 230 240 250
IVSYAELDES LEDPETGEVI KWYVFLISFW GEQIGHKVKK ICDCYHCHVY
260 270 280 290 300
PYPNTAEERR EIQEGLNTRI QDLYTVLHKT EDYLRQVLCK AAESVYSRVI
310 320 330 340 350
QVKKMKAIYH MLNMCSFDVT NKCLIAEVWC PEADLQDLRR ALEEGSRESG
360 370 380 390 400
ATIPSFMNII PTKETPPTRI RTNKFTEGFQ NIVDAYGVGS YREVNPALFT
410 420 430 440 450
IITFPFLFAV MFGDFGHGFV MFLFALLLVL NENHPRLNQS QEIMRMFFNG
460 470 480 490 500
RYILLLMGLF SVYTGLIYND CFSKSVNLFG SGWNVSAMYS SSHPPAEHKK
510 520 530 540 550
MVLWNDSVVR HNSILQLDPS IPGVFRGPYP LGIDPIWNLA TNRLTFLNSF
560 570 580 590 600
KMKMSVILGI IHMTFGVILG IFNHLHFRKK FNIYLVSIPE LLFMLCIFGY
610 620 630 640 650
LIFMIFYKWL VFSAETSRVA PSILIEFINM FLFPASKTSG LYTGQEYVQR
660 670 680 690 700
VLLVVTALSV PVLFLGKPLF LLWLHNGRSC FGVNRSGYTL IRKDSEEEVS
710 720 730 740 750
LLGSQDIEEG NHQVEDGCRE MACEEFNFGE ILMTQVIHSI EYCLGCISNT
760 770 780 790 800
ASYLRLWALS LAHAQLSDVL WAMLMRVGLR VDTTYGVLLL LPVIALFAVL
810 820 830 840 850
TIFILLIMEG LSAFLHAIRL HWVEFQNKFY VGAGTKFVPF SFSLLSSKFN

NDDSVA
Length:856
Mass (Da):98,082
Last modified:March 18, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6C38B36FA33A92BA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GX48F5GX48_HUMAN
V-type proton ATPase subunit a
ATP6V0A2
138Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H5F3F5H5F3_HUMAN
V-type proton ATPase subunit a
ATP6V0A2
328Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H847F5H847_HUMAN
V-type proton ATPase subunit a
ATP6V0A2
131Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q8TBM3Q8TBM3_HUMAN
V-type proton ATPase subunit a
ATP6V0A2 hCG_1786229
372Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti428L → W in AAD04632 (Ref. 1) Curated1
Sequence conflicti669L → P in BAF82080 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_042730685R → Q. Corresponds to variant dbSNP:rs7969410EnsemblClinVar.1
Natural variantiVAR_042731813A → V. Corresponds to variant dbSNP:rs17883456EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF112972 mRNA Translation: AAD04632.1
AK289391 mRNA Translation: BAF82080.1
CH471054 Genomic DNA Translation: EAW98434.1
BC068531 mRNA Translation: AAH68531.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS9254.1

NCBI Reference Sequences

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RefSeqi
NP_036595.2, NM_012463.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000330342; ENSP00000332247; ENSG00000185344

Database of genes from NCBI RefSeq genomes

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GeneIDi
23545

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23545

UCSC genome browser

More...
UCSCi
uc001ufr.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF112972 mRNA Translation: AAD04632.1
AK289391 mRNA Translation: BAF82080.1
CH471054 Genomic DNA Translation: EAW98434.1
BC068531 mRNA Translation: AAH68531.1
CCDSiCCDS9254.1
RefSeqiNP_036595.2, NM_012463.3

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi117089, 73 interactors
IntActiQ9Y487, 49 interactors
MINTiQ9Y487
STRINGi9606.ENSP00000332247

PTM databases

GlyConnecti1898
iPTMnetiQ9Y487
PhosphoSitePlusiQ9Y487
SwissPalmiQ9Y487

Polymorphism and mutation databases

BioMutaiATP6V0A2
DMDMi172046607

Proteomic databases

EPDiQ9Y487
jPOSTiQ9Y487
MassIVEiQ9Y487
MaxQBiQ9Y487
PaxDbiQ9Y487
PeptideAtlasiQ9Y487
PRIDEiQ9Y487
ProteomicsDBi86130

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
23545

Genome annotation databases

EnsembliENST00000330342; ENSP00000332247; ENSG00000185344
GeneIDi23545
KEGGihsa:23545
UCSCiuc001ufr.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23545
DisGeNETi23545

GeneCards: human genes, protein and diseases

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GeneCardsi
ATP6V0A2
GeneReviewsiATP6V0A2
HGNCiHGNC:18481 ATP6V0A2
HPAiHPA044279
MalaCardsiATP6V0A2
MIMi219200 phenotype
278250 phenotype
611716 gene
neXtProtiNX_Q9Y487
OpenTargetsiENSG00000185344
Orphaneti357074 Autosomal recessive cutis laxa type 2, classic type
2834 Wrinkly skin syndrome
PharmGKBiPA38549

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2189 Eukaryota
COG1269 LUCA
GeneTreeiENSGT00950000182881
HOGENOMiHOG000037059
InParanoidiQ9Y487
KOiK02154
OMAiVKFCPFS
OrthoDBi181796at2759
PhylomeDBiQ9Y487
TreeFamiTF300346

Enzyme and pathway databases

BioCyciMetaCyc:G66-33375-MONOMER
BRENDAi3.6.3.6 2681
ReactomeiR-HSA-1222556 ROS and RNS production in phagocytes
R-HSA-77387 Insulin receptor recycling
R-HSA-917977 Transferrin endocytosis and recycling
R-HSA-983712 Ion channel transport

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ATP6V0A2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ATP6V0A2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
23545
PharosiQ9Y487

Protein Ontology

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PROi
PR:Q9Y487

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000185344 Expressed in 187 organ(s), highest expression level in small intestine Peyer's patch
ExpressionAtlasiQ9Y487 baseline and differential
GenevisibleiQ9Y487 HS

Family and domain databases

InterProiView protein in InterPro
IPR002490 V-ATPase_116kDa_su
IPR026028 V-type_ATPase_116kDa_su_euka
PANTHERiPTHR11629 PTHR11629, 1 hit
PfamiView protein in Pfam
PF01496 V_ATPase_I, 1 hit
PIRSFiPIRSF001293 ATP6V0A1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiVPP2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y487
Secondary accession number(s): A8K026, Q6NUM0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: March 18, 2008
Last modified: October 16, 2019
This is version 169 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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