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UniProtKB - Q13488 (VPP3_HUMAN)

Entry version 197 (07 Apr 2021)
Sequence version 3 (10 Feb 2009)
Previous versions | rss
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Protein

V-type proton ATPase 116 kDa subunit a3

Gene

TCIRG1

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 (By similarity). Seems to be directly involved in T-cell activation.By similarity

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

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

Biological processHydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:ENSG00000110719-MONOMER

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q13488

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1222556, ROS and RNS production in phagocytes
R-HSA-6798695, Neutrophil degranulation
R-HSA-77387, Insulin receptor recycling
R-HSA-917977, Transferrin endocytosis and recycling
R-HSA-9639288, Amino acids regulate mTORC1
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%5Fand%5Ftaxonomy%5Fsection">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 a3
Short name:
V-ATPase 116 kDa subunit a3
Alternative name(s):
Osteoclastic proton pump 116 kDa subunit
Short name:
OC-116 kDa
Short name:
OC116
T-cell immune regulator 1
T-cell immune response cDNA7 protein
Short name:
TIRC7
Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:TCIRG1
Synonyms:ATP6N1C, ATP6V0A3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11647, TCIRG1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604592, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q13488

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000110719.9

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 – 385CytoplasmicSequence analysisAdd BLAST385
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei386 – 404HelicalSequence analysisAdd BLAST19
Topological domaini405 – 406VacuolarSequence analysis2
Transmembranei407 – 423HelicalSequence analysisAdd BLAST17
Topological domaini424 – 438CytoplasmicSequence analysisAdd BLAST15
Transmembranei439 – 468HelicalSequence analysisAdd BLAST30
Topological domaini469 – 532VacuolarSequence analysisAdd BLAST64
Transmembranei533 – 552HelicalSequence analysisAdd BLAST20
Topological domaini553 – 570CytoplasmicSequence analysisAdd BLAST18
Transmembranei571 – 591HelicalSequence analysisAdd BLAST21
Topological domaini592 – 635VacuolarSequence analysisAdd BLAST44
Transmembranei636 – 655HelicalSequence analysisAdd BLAST20
Topological domaini656 – 720CytoplasmicSequence analysisAdd BLAST65
Transmembranei721 – 745HelicalSequence analysisAdd BLAST25
Topological domaini746 – 766VacuolarSequence analysisAdd BLAST21
Transmembranei767 – 807HelicalSequence analysisAdd BLAST41
Topological domaini808 – 830CytoplasmicSequence analysisAdd BLAST23

Keywords - Cellular componenti

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

Osteopetrosis, autosomal recessive 1 (OPTB1)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.
Related information in OMIM
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_020988141A → P in OPTB1. 1 Publication1
Natural variantiVAR_019569405G → R in OPTB1. 3 PublicationsCorresponds to variant dbSNP:rs137853150EnsemblClinVar.1
Natural variantiVAR_019570444R → L in OPTB1. 1 PublicationCorresponds to variant dbSNP:rs137853151EnsemblClinVar.1
Natural variantiVAR_020989462Missing in OPTB1. 1 PublicationCorresponds to variant dbSNP:rs771271907Ensembl.1
Natural variantiVAR_020990517D → N in OPTB1. 1 PublicationCorresponds to variant dbSNP:rs369264588Ensembl.1
Natural variantiVAR_020991775P → R in OPTB1. 1 Publication1

Keywords - Diseasei

Disease variant, Osteopetrosis

Organism-specific databases

DisGeNET

More...DisGeNETi		10312

MalaCards human disease database

More...MalaCardsi		TCIRG1
MIMi259700, phenotype

Open Targets

More...OpenTargetsi		ENSG00000110719

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

More...Orphaneti		486, Autosomal dominant severe congenital neutropenia
667, Autosomal recessive malignant osteopetrosis
1782, Dysosteosclerosis
210110, Intermediate osteopetrosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36399

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q13488, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB01133, Tiludronic acid

DrugCentral

More...DrugCentrali		Q13488

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TCIRG1

Domain mapping of disease mutations (DMDM)

More...DMDMi		223634720

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001192181 – 830V-type proton ATPase 116 kDa subunit a3Add BLAST830

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q13488

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q13488

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q13488

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q13488

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

More...PaxDbi		Q13488

PeptideAtlas

More...PeptideAtlasi		Q13488

PRoteomics IDEntifications database

More...PRIDEi		Q13488

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		59481 [Q13488-1]
59482 [Q13488-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q13488

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

More...PhosphoSitePlusi		Q13488

<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

Isoform long is highly expressed in osteoclastomas. Isoform short is highly expressed in thymus.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000110719, Expressed in blood and 117 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q13488, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q13488, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000110719, Low tissue specificity

<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%5Fsection">'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%5Fsection">'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''.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115597, 36 interactors

Protein interaction database and analysis system

More...IntActi		Q13488, 14 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000265686

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q13488, protein

<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

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

More...SMRi		Q13488

Database of comparative protein structure models

More...ModBasei		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 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

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182881

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_005230_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q13488

Identification of Orthologs from Complete Genome Data

More...OMAi		CDCFRTQ

Database of Orthologous Groups

More...OrthoDBi		24858at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q13488

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%5Flength">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>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform Long (identifier: Q13488-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MGSMFRSEEV ALVQLFLPTA AAYTCVSRLG ELGLVEFRDL NASVSAFQRR 
        60         70         80         90        100
FVVDVRRCEE LEKTFTFLQE EVRRAGLVLP PPKGRLPAPP PRDLLRIQEE 
       110        120        130        140        150
TERLAQELRD VRGNQQALRA QLHQLQLHAA VLRQGHEPQL AAAHTDGASE 
       160        170        180        190        200
RTPLLQAPGG PHQDLRVNFV AGAVEPHKAP ALERLLWRAC RGFLIASFRE 
       210        220        230        240        250
LEQPLEHPVT GEPATWMTFL ISYWGEQIGQ KIRKITDCFH CHVFPFLQQE 
       260        270        280        290        300
EARLGALQQL QQQSQELQEV LGETERFLSQ VLGRVLQLLP PGQVQVHKMK 
       310        320        330        340        350
AVYLALNQCS VSTTHKCLIA EAWCSVRDLP ALQEALRDSS MEEGVSAVAH 
       360        370        380        390        400
RIPCRDMPPT LIRTNRFTAS FQGIVDAYGV GRYQEVNPAP YTIITFPFLF 
       410        420        430        440        450
AVMFGDVGHG LLMFLFALAM VLAENRPAVK AAQNEIWQTF FRGRYLLLLM 
       460        470        480        490        500
GLFSIYTGFI YNECFSRATS IFPSGWSVAA MANQSGWSDA FLAQHTMLTL 
       510        520        530        540        550
DPNVTGVFLG PYPFGIDPIW SLAANHLSFL NSFKMKMSVI LGVVHMAFGV 
       560        570        580        590        600
VLGVFNHVHF GQRHRLLLET LPELTFLLGL FGYLVFLVIY KWLCVWAARA 
       610        620        630        640        650
ASAPSILIHF INMFLFSHSP SNRLLYPRQE VVQATLVVLA LAMVPILLLG 
       660        670        680        690        700
TPLHLLHRHR RRLRRRPADR QEENKAGLLD LPDASVNGWS SDEEKAGGLD 
       710        720        730        740        750
DEEEAELVPS EVLMHQAIHT IEFCLGCVSN TASYLRLWAL SLAHAQLSEV 
       760        770        780        790        800
LWAMVMRIGL GLGREVGVAA VVLVPIFAAF AVMTVAILLV MEGLSAFLHA 
       810        820        830
LRLHWVEFQN KFYSGTGYKL SPFTFAATDD
Length:830
Mass (Da):92,968
Last modified:February 10, 2009 - v3
<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:i50751B41B171D9D2
GO
Isoform Short (identifier: Q13488-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-216: Missing.

Show »
Length:614
Mass (Da):68,776
Checksum:iB493A1F9514419FE
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PNA6E9PNA6_HUMAN
V-type proton ATPase subunit a
TCIRG1
299Annotation 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>
E9PMC5E9PMC5_HUMAN
V-type proton ATPase subunit a
TCIRG1
174Annotation 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>
E9PM12E9PM12_HUMAN
V-type proton ATPase subunit a
TCIRG1
217Annotation 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>
H0YCE3H0YCE3_HUMAN
V-type proton ATPase subunit a
TCIRG1
290Annotation 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>
H0YEL3H0YEL3_HUMAN
V-type proton ATPase subunit a
TCIRG1
104Annotation 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>
Q8TCH1Q8TCH1_HUMAN
V-type proton ATPase subunit a
TCIRG1
61Annotation 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 conflicti377A → R in AAA97878 (PubMed:8579597).Curated1
Sequence conflicti603Missing in AAA97878 (PubMed:8579597).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05434056R → W. Corresponds to variant dbSNP:rs36027301EnsemblClinVar.1
Natural variantiVAR_020988141A → P in OPTB1. 1 Publication1
Natural variantiVAR_054341161P → L. Corresponds to variant dbSNP:rs34227834EnsemblClinVar.1
Natural variantiVAR_019569405G → R in OPTB1. 3 PublicationsCorresponds to variant dbSNP:rs137853150EnsemblClinVar.1
Natural variantiVAR_019570444R → L in OPTB1. 1 PublicationCorresponds to variant dbSNP:rs137853151EnsemblClinVar.1
Natural variantiVAR_020989462Missing in OPTB1. 1 PublicationCorresponds to variant dbSNP:rs771271907Ensembl.1
Natural variantiVAR_020990517D → N in OPTB1. 1 PublicationCorresponds to variant dbSNP:rs369264588Ensembl.1
Natural variantiVAR_020991775P → R in OPTB1. 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_0003451 – 216Missing in isoform Short. 1 PublicationAdd BLAST216

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
U45285 mRNA Translation: AAA97878.1
AF025374 mRNA Translation: AAC35742.1
AF033033 Genomic DNA Translation: AAD31081.2
CH471076 Genomic DNA Translation: EAW74691.1
BC018133 mRNA Translation: AAH18133.1
BC032465 mRNA Translation: AAH32465.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS53670.1 [Q13488-2]
CCDS8177.1 [Q13488-1]

NCBI Reference Sequences

More...RefSeqi		NP_006010.2, NM_006019.3 [Q13488-1]
NP_006044.1, NM_006053.3 [Q13488-2]
XP_005273766.1, XM_005273709.3
XP_011543028.1, XM_011544726.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000265686; ENSP00000265686; ENSG00000110719 [Q13488-1]
ENST00000532635; ENSP00000434407; ENSG00000110719 [Q13488-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10312

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10312

UCSC genome browser

More...UCSCi		uc001one.4, human [Q13488-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

TCIRG1base

TCIRG1 mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U45285 mRNA Translation: AAA97878.1
AF025374 mRNA Translation: AAC35742.1
AF033033 Genomic DNA Translation: AAD31081.2
CH471076 Genomic DNA Translation: EAW74691.1
BC018133 mRNA Translation: AAH18133.1
BC032465 mRNA Translation: AAH32465.1
CCDSiCCDS53670.1 [Q13488-2]
CCDS8177.1 [Q13488-1]
RefSeqiNP_006010.2, NM_006019.3 [Q13488-1]
NP_006044.1, NM_006053.3 [Q13488-2]
XP_005273766.1, XM_005273709.3
XP_011543028.1, XM_011544726.2

3D structure databases

SMRiQ13488
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi115597, 36 interactors
IntActiQ13488, 14 interactors
STRINGi9606.ENSP00000265686

Chemistry databases

DrugBankiDB01133, Tiludronic acid
DrugCentraliQ13488

PTM databases

iPTMnetiQ13488
PhosphoSitePlusiQ13488

Genetic variation databases

BioMutaiTCIRG1
DMDMi223634720

Proteomic databases

EPDiQ13488
jPOSTiQ13488
MassIVEiQ13488
MaxQBiQ13488
PaxDbiQ13488
PeptideAtlasiQ13488
PRIDEiQ13488
ProteomicsDBi59481 [Q13488-1]
59482 [Q13488-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		30523, 92 antibodies

The DNASU plasmid repository

More...DNASUi		10312

Genome annotation databases

EnsembliENST00000265686; ENSP00000265686; ENSG00000110719 [Q13488-1]
ENST00000532635; ENSP00000434407; ENSG00000110719 [Q13488-2]
GeneIDi10312
KEGGihsa:10312
UCSCiuc001one.4, human [Q13488-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10312
DisGeNETi10312

GeneCards: human genes, protein and diseases

More...GeneCardsi		TCIRG1
HGNCiHGNC:11647, TCIRG1
HPAiENSG00000110719, Low tissue specificity
MalaCardsiTCIRG1
MIMi259700, phenotype
604592, gene
neXtProtiNX_Q13488
OpenTargetsiENSG00000110719
Orphaneti486, Autosomal dominant severe congenital neutropenia
667, Autosomal recessive malignant osteopetrosis
1782, Dysosteosclerosis
210110, Intermediate osteopetrosis
PharmGKBiPA36399
VEuPathDBiHostDB:ENSG00000110719.9

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2189, Eukaryota
GeneTreeiENSGT00950000182881
HOGENOMiCLU_005230_0_0_1
InParanoidiQ13488
OMAiCDCFRTQ
OrthoDBi24858at2759
PhylomeDBiQ13488
TreeFamiTF300346

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000110719-MONOMER
PathwayCommonsiQ13488
ReactomeiR-HSA-1222556, ROS and RNS production in phagocytes
R-HSA-6798695, Neutrophil degranulation
R-HSA-77387, Insulin receptor recycling
R-HSA-917977, Transferrin endocytosis and recycling
R-HSA-9639288, Amino acids regulate mTORC1
R-HSA-983712, Ion channel transport

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10312, 10 hits in 993 CRISPR screens

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

More...ChiTaRSi		TCIRG1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TCIRG1

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

More...GenomeRNAii		10312
PharosiQ13488, Tbio

Protein Ontology

More...PROi		PR:Q13488
RNActiQ13488, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000110719, Expressed in blood and 117 other tissues
ExpressionAtlasiQ13488, baseline and differential
GenevisibleiQ13488, 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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiVPP3_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: Q13488
Secondary accession number(s): O75877, Q8WVC5
<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%5Fand%5Fisoforms">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: February 10, 2009
Last modified: April 7, 2021
This is version 197 of the entry and version 3 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

Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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