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UniProtKB - P38606 (VATA_HUMAN)

Entry version 190 (13 Feb 2019)
Sequence version 2 (02 Aug 2002)
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Protein

V-type proton ATPase catalytic subunit A

Gene

ATP6V1A

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

Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. 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). May play a role in neurite development and synaptic connectivity (PubMed:29668857).2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi250 – 257ATPSequence analysis8

<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

  • ATP binding Source: UniProtKB-KW
  • proton-transporting ATPase activity, rotational mechanism Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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

Molecular functionTranslocase
Biological processHydrogen ion transport, Ion transport, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS03781-MONOMER

Reactome - a knowledgebase of biological pathways and processes

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

Protein family/group databases

Transport Classification Database

More...TCDBi		3.A.2.2.4 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily

<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 catalytic subunit A (EC:7.1.2.2)
Short name:
V-ATPase subunit A
Alternative name(s):
V-ATPase 69 kDa subunit
Vacuolar ATPase isoform VA68
Vacuolar proton pump subunit alpha
<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
Name:ATP6V1A
Synonyms:ATP6A1, ATP6V1A1, VPP2
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000114573.9

Human Gene Nomenclature Database

More...HGNCi		HGNC:851 ATP6V1A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607027 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P38606

<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

Keywords - Cellular componenti

Cytoplasm

<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, 2D (ARCL2D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement.
See also OMIM:617403
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_07860672G → D in ARCL2D. 1 PublicationCorresponds to variant dbSNP:rs1060505037EnsemblClinVar.1
Natural variantiVAR_078607338R → C in ARCL2D. 1 PublicationCorresponds to variant dbSNP:rs1060505036EnsemblClinVar.1
Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE3 is an autosomal dominant form characterized by onset of seizures in the first years of life.The severity of the phenotype is highly variable: some patients may be non-verbal and non-ambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability.
See also OMIM:618012
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08099527P → R in IECEE3; unknown pathological significance. 1 Publication1
Natural variantiVAR_080996100D → Y in IECEE3; loss-of-function variant leading to increased pH in intracellular organelles; affects neurite arborization and impairs the formation and maintenance of excitatory synapses, when tested in a heterologous system; not effect on subcellular location. 1 Publication1
Natural variantiVAR_080998349D → N in IECEE3; gain-of-function variant leading to decreased pH in intracellular organelles; affects neurite arborization and impairs the formation and maintenance of excitatory synapses, when tested in a heterologous system; not effect on subcellular location. 1 Publication1
Natural variantiVAR_080999371D → G in IECEE3; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		523

MalaCards human disease database

More...MalaCardsi		ATP6V1A
MIMi617403 phenotype
618012 phenotype

Open Targets

More...OpenTargetsi		ENSG00000114573

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25152

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00630 Alendronic acid
DB06733 Bafilomycin A1
DB06734 Bafilomycin B1
DB01077 Etidronic acid
DB01133 Tiludronic acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ATP6V1A

Domain mapping of disease mutations (DMDM)

More...DMDMi		22096378

<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_00001445601 – 617V-type proton ATPase catalytic subunit AAdd BLAST617
Isoform 2 (identifier: P38606-2)
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei136PhosphothreonineCombined sources1
Modified residuei384PhosphoserineCombined sources1
Isoform 2 (identifier: P38606-2)
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P38606

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P38606

MaxQB - The MaxQuant DataBase

More...MaxQBi		P38606

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

More...PaxDbi		P38606

PeptideAtlas

More...PeptideAtlasi		P38606

PRoteomics IDEntifications database

More...PRIDEi		P38606

ProteomicsDB human proteome resource

More...ProteomicsDBi		55303

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P38606

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

More...PhosphoSitePlusi		P38606

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P38606

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

High expression in the skin.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000114573 Expressed in 238 organ(s), highest expression level in Brodmann (1909) area 23

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P38606 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P38606 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB006910
HPA035083
HPA035084

<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

V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the proteolipid protein).

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		107007, 107 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P38606

Protein interaction database and analysis system

More...IntActi		P38606, 95 interactors

Molecular INTeraction database

More...MINTi		P38606

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000273398

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P38606

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P38606

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 ATPase alpha/beta chains family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1352 Eukaryota
COG1155 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00550000074787

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000161057

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG053351

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P38606

KEGG Orthology (KO)

More...KOi		K02145

Identification of Orthologs from Complete Genome Data

More...OMAi		QQLAKWS

Database of Orthologous Groups

More...OrthoDBi		241249at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P38606

TreeFam database of animal gene trees

More...TreeFami		TF300811

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.1140.10, 1 hit
2.40.30.20, 1 hit

HAMAP database of protein families

More...HAMAPi		MF_00309 ATP_synth_A_arch, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR031686 ATP-synth_a_Xtn
IPR023366 ATP_synth_asu-like_sf
IPR020003 ATPase_a/bsu_AS
IPR004100 ATPase_F1/V1/A1_a/bsu_N
IPR036121 ATPase_F1/V1/A1_a/bsu_N_sf
IPR000194 ATPase_F1/V1/A1_a/bsu_nucl-bd
IPR024034 ATPase_F1/V1_b/a_C
IPR005725 ATPase_V1-cplx_asu
IPR027417 P-loop_NTPase
IPR022878 V-ATPase_asu

The PANTHER Classification System

More...PANTHERi		PTHR43607 PTHR43607, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00006 ATP-synt_ab, 1 hit
PF02874 ATP-synt_ab_N, 1 hit
PF16886 ATP-synt_ab_Xtn, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50615 SSF50615, 1 hit
SSF52540 SSF52540, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR01042 V-ATPase_V1_A, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00152 ATPASE_ALPHA_BETA, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P38606-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDFSKLPKIL DEDKESTFGY VHGVSGPVVT ACDMAGAAMY ELVRVGHSEL 
        60         70         80         90        100
VGEIIRLEGD MATIQVYEET SGVSVGDPVL RTGKPLSVEL GPGIMGAIFD 
       110        120        130        140        150
GIQRPLSDIS SQTQSIYIPR GVNVSALSRD IKWDFTPCKN LRVGSHITGG 
       160        170        180        190        200
DIYGIVSENS LIKHKIMLPP RNRGTVTYIA PPGNYDTSDV VLELEFEGVK 
       210        220        230        240        250
EKFTMVQVWP VRQVRPVTEK LPANHPLLTG QRVLDALFPC VQGGTTAIPG 
       260        270        280        290        300
AFGCGKTVIS QSLSKYSNSD VIIYVGCGER GNEMSEVLRD FPELTMEVDG 
       310        320        330        340        350
KVESIMKRTA LVANTSNMPV AAREASIYTG ITLSEYFRDM GYHVSMMADS 
       360        370        380        390        400
TSRWAEALRE ISGRLAEMPA DSGYPAYLGA RLASFYERAG RVKCLGNPER 
       410        420        430        440        450
EGSVSIVGAV SPPGGDFSDP VTSATLGIVQ VFWGLDKKLA QRKHFPSVNW 
       460        470        480        490        500
LISYSKYMRA LDEYYDKHFT EFVPLRTKAK EILQEEEDLA EIVQLVGKAS 
       510        520        530        540        550
LAETDKITLE VAKLIKDDFL QQNGYTPYDR FCPFYKTVGM LSNMIAFYDM 
       560        570        580        590        600
ARRAVETTAQ SDNKITWSII REHMGDILYK LSSMKFKDPL KDGEAKIKSD 
       610 
YAQLLEDMQN AFRSLED
Length:617
Mass (Da):68,304
Last modified:August 2, 2002 - 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:iDB409A8731D772CB
GO
Isoform 2 (identifier: P38606-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: Missing.

Note: No experimental confirmation available.Combined sources
Show »
Length:584
Mass (Da):64,736
Checksum:i6F677073A4B4A48B
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JVW8C9JVW8_HUMAN
V-type proton ATPase catalytic subu...
ATP6V1A
221Annotation score:

Annotation score:1 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>
C9JA17C9JA17_HUMAN
V-type proton ATPase catalytic subu...
ATP6V1A
184Annotation score:

Annotation score:1 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>
F8WDJ3F8WDJ3_HUMAN
V-type proton ATPase catalytic subu...
ATP6V1A
49Annotation score:

Annotation score:1 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 conflicti71S → C in AAA83249 (PubMed:8463241).Curated1
Sequence conflicti89 – 90EL → DV in AAA83249 (PubMed:8463241).Curated2
Sequence conflicti211V → A in AAA83249 (PubMed:8463241).Curated1
Sequence conflicti211V → A in AAF14870 (PubMed:10931946).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08099411D → N Found in a patient with autism spectrum disorder; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs746407800Ensembl.1
Natural variantiVAR_08099527P → R in IECEE3; unknown pathological significance. 1 Publication1
Natural variantiVAR_07860672G → D in ARCL2D. 1 PublicationCorresponds to variant dbSNP:rs1060505037EnsemblClinVar.1
Natural variantiVAR_080996100D → Y in IECEE3; loss-of-function variant leading to increased pH in intracellular organelles; affects neurite arborization and impairs the formation and maintenance of excitatory synapses, when tested in a heterologous system; not effect on subcellular location. 1 Publication1
Natural variantiVAR_080997249P → R Found in a patient with severe developmental disorder; unknown pathological significance. 1 Publication1
Natural variantiVAR_078607338R → C in ARCL2D. 1 PublicationCorresponds to variant dbSNP:rs1060505036EnsemblClinVar.1
Natural variantiVAR_080998349D → N in IECEE3; gain-of-function variant leading to decreased pH in intracellular organelles; affects neurite arborization and impairs the formation and maintenance of excitatory synapses, when tested in a heterologous system; not effect on subcellular location. 1 Publication1
Natural variantiVAR_080999371D → G in IECEE3; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0564081 – 33Missing in isoform 2. 1 PublicationAdd BLAST33

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
L09235 mRNA Translation: AAA83249.1
AF113129 mRNA Translation: AAF14870.1
BT006672 mRNA Translation: AAP35318.1
AK293804 mRNA Translation: BAH11601.1
AK314779 mRNA Translation: BAG37315.1
AC079944 Genomic DNA No translation available.
AC108693 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79625.1
CH471052 Genomic DNA Translation: EAW79626.1
BC013138 mRNA Translation: AAH13138.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2976.1 [P38606-1]

Protein sequence database of the Protein Information Resource

More...PIRi		B46091

NCBI Reference Sequences

More...RefSeqi		NP_001681.2, NM_001690.3 [P38606-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.477155

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000273398; ENSP00000273398; ENSG00000114573 [P38606-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		523

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:523

UCSC genome browser

More...UCSCi		uc003eao.4 human [P38606-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
L09235 mRNA Translation: AAA83249.1
AF113129 mRNA Translation: AAF14870.1
BT006672 mRNA Translation: AAP35318.1
AK293804 mRNA Translation: BAH11601.1
AK314779 mRNA Translation: BAG37315.1
AC079944 Genomic DNA No translation available.
AC108693 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79625.1
CH471052 Genomic DNA Translation: EAW79626.1
BC013138 mRNA Translation: AAH13138.1
CCDSiCCDS2976.1 [P38606-1]
PIRiB46091
RefSeqiNP_001681.2, NM_001690.3 [P38606-1]
UniGeneiHs.477155

3D structure databases

ProteinModelPortaliP38606
SMRiP38606
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107007, 107 interactors
CORUMiP38606
IntActiP38606, 95 interactors
MINTiP38606
STRINGi9606.ENSP00000273398

Chemistry databases

DrugBankiDB00630 Alendronic acid
DB06733 Bafilomycin A1
DB06734 Bafilomycin B1
DB01077 Etidronic acid
DB01133 Tiludronic acid

Protein family/group databases

TCDBi3.A.2.2.4 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily

PTM databases

iPTMnetiP38606
PhosphoSitePlusiP38606
SwissPalmiP38606

Polymorphism and mutation databases

BioMutaiATP6V1A
DMDMi22096378

Proteomic databases

EPDiP38606
jPOSTiP38606
MaxQBiP38606
PaxDbiP38606
PeptideAtlasiP38606
PRIDEiP38606
ProteomicsDBi55303

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		523
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000273398; ENSP00000273398; ENSG00000114573 [P38606-1]
GeneIDi523
KEGGihsa:523
UCSCiuc003eao.4 human [P38606-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		523
DisGeNETi523
EuPathDBiHostDB:ENSG00000114573.9

GeneCards: human genes, protein and diseases

More...GeneCardsi		ATP6V1A
HGNCiHGNC:851 ATP6V1A
HPAiCAB006910
HPA035083
HPA035084
MalaCardsiATP6V1A
MIMi607027 gene
617403 phenotype
618012 phenotype
neXtProtiNX_P38606
OpenTargetsiENSG00000114573
PharmGKBiPA25152

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1352 Eukaryota
COG1155 LUCA
GeneTreeiENSGT00550000074787
HOGENOMiHOG000161057
HOVERGENiHBG053351
InParanoidiP38606
KOiK02145
OMAiQQLAKWS
OrthoDBi241249at2759
PhylomeDBiP38606
TreeFamiTF300811

Enzyme and pathway databases

BioCyciMetaCyc:HS03781-MONOMER
ReactomeiR-HSA-1222556 ROS, 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

More...ChiTaRSi		ATP6V1A human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ATP6V1A

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

More...GenomeRNAii		523

Protein Ontology

More...PROi		PR:P38606

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000114573 Expressed in 238 organ(s), highest expression level in Brodmann (1909) area 23
ExpressionAtlasiP38606 baseline and differential
GenevisibleiP38606 HS

Family and domain databases

Gene3Di1.10.1140.10, 1 hit
2.40.30.20, 1 hit
HAMAPiMF_00309 ATP_synth_A_arch, 1 hit
InterProiView protein in InterPro
IPR031686 ATP-synth_a_Xtn
IPR023366 ATP_synth_asu-like_sf
IPR020003 ATPase_a/bsu_AS
IPR004100 ATPase_F1/V1/A1_a/bsu_N
IPR036121 ATPase_F1/V1/A1_a/bsu_N_sf
IPR000194 ATPase_F1/V1/A1_a/bsu_nucl-bd
IPR024034 ATPase_F1/V1_b/a_C
IPR005725 ATPase_V1-cplx_asu
IPR027417 P-loop_NTPase
IPR022878 V-ATPase_asu
PANTHERiPTHR43607 PTHR43607, 1 hit
PfamiView protein in Pfam
PF00006 ATP-synt_ab, 1 hit
PF02874 ATP-synt_ab_N, 1 hit
PF16886 ATP-synt_ab_Xtn, 1 hit
SUPFAMiSSF50615 SSF50615, 1 hit
SSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR01042 V-ATPase_V1_A, 1 hit
PROSITEiView protein in PROSITE
PS00152 ATPASE_ALPHA_BETA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<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 nameiVATA_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: P38606
Secondary accession number(s): B2RBR8
, B7Z1R5, D3DN75, Q53YD9, Q96DY6, Q9UHY3
<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: October 1, 1994
Last sequence update: August 2, 2002
Last modified: February 13, 2019
This is version 190 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 chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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