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Protein

V-type proton ATPase 116 kDa subunit a isoform 3

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

  • ATPase binding Source: GO_Central
  • proton-transporting ATPase activity, rotational mechanism Source: GO_Central
  • transporter activity Source: ProtInc

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

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BioCyci
MetaCyc:ENSG00000110719-MONOMER

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1222556 ROS, RNS production in phagocytes
R-HSA-6798695 Neutrophil degranulation
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 3
Short name:
V-ATPase 116 kDa isoform 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_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:TCIRG1
Synonyms:ATP6N1C, ATP6V0A3
<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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000110719.9

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

<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; 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 – 385CytoplasmicSequence analysisAdd BLAST385
<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>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 mutations 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.
See also OMIM:259700
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 Publication1
Natural variantiVAR_020990517D → N in OPTB1. 1 PublicationCorresponds to variant dbSNP:rs369264588Ensembl.1
Natural variantiVAR_020991775P → R in OPTB1. 1 Publication1

Keywords - Diseasei

Disease mutation, 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
210110 Intermediate osteopetrosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36399

Polymorphism and mutation 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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001192181 – 830V-type proton ATPase 116 kDa subunit a isoform 3Add BLAST830

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q13488

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q13488

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

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PaxDbi
Q13488

PeptideAtlas

More...
PeptideAtlasi
Q13488

PRoteomics IDEntifications database

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PRIDEi
Q13488

ProteomicsDB human proteome resource

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ProteomicsDBi
59481
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 95 organ(s), highest expression level in blood

CleanEx database of gene expression profiles

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CleanExi
HS_TCIRG1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13488 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13488 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038742

<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''.

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115597, 21 interactors

Protein interaction database and analysis system

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IntActi
Q13488, 8 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000265686

<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

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ProteinModelPortali
Q13488

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 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
ENSGT00940000153183

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000037059

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG014606

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13488

KEGG Orthology (KO)

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KOi
K02154

Identification of Orthologs from Complete Genome Data

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OMAi
MTFLISY

Database of Orthologous Groups

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OrthoDBi
EOG091G031W

Database for complete collections of gene phylogenies

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PhylomeDBi
Q13488

TreeFam database of animal gene trees

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TreeFami
TF300346

Family and domain databases

Integrated resource of protein families, domains and functional sites

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

The PANTHER Classification System

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PANTHERi
PTHR11629 PTHR11629, 1 hit

Pfam protein domain database

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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>.<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.

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 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 '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
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.

Note: No experimental confirmation available.
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>
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>
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>
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 Publication1
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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

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

NCBI Reference Sequences

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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

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.495985
Hs.716672

Genome annotation databases

Ensembl eukaryotic genome annotation project

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

Database of genes from NCBI RefSeq genomes

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GeneIDi
10312

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10312

UCSC genome browser

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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_references_section">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
UniGeneiHs.495985
Hs.716672

3D structure databases

ProteinModelPortaliQ13488
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115597, 21 interactors
IntActiQ13488, 8 interactors
STRINGi9606.ENSP00000265686

PTM databases

iPTMnetiQ13488
PhosphoSitePlusiQ13488

Polymorphism and mutation databases

BioMutaiTCIRG1
DMDMi223634720

Proteomic databases

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

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
10312
Structural Biology KnowledgebaseSearch...

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

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CTDi
10312
DisGeNETi10312
EuPathDBiHostDB:ENSG00000110719.9

GeneCards: human genes, protein and diseases

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GeneCardsi
TCIRG1
HGNCiHGNC:11647 TCIRG1
HPAiHPA038742
MalaCardsiTCIRG1
MIMi259700 phenotype
604592 gene
neXtProtiNX_Q13488
OpenTargetsiENSG00000110719
Orphaneti486 Autosomal dominant severe congenital neutropenia
667 Autosomal recessive malignant osteopetrosis
210110 Intermediate osteopetrosis
PharmGKBiPA36399

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2189 Eukaryota
COG1269 LUCA
GeneTreeiENSGT00940000153183
HOGENOMiHOG000037059
HOVERGENiHBG014606
InParanoidiQ13488
KOiK02154
OMAiMTFLISY
OrthoDBiEOG091G031W
PhylomeDBiQ13488
TreeFamiTF300346

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000110719-MONOMER
ReactomeiR-HSA-1222556 ROS, RNS production in phagocytes
R-HSA-6798695 Neutrophil degranulation
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
TCIRG1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TCIRG1

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

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GenomeRNAii
10312

Protein Ontology

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PROi
PR:Q13488

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000110719 Expressed in 95 organ(s), highest expression level in blood
CleanExiHS_TCIRG1
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

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ProtoNeti
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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 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_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: February 10, 2009
Last modified: December 5, 2018
This is version 179 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

Complete proteome, Reference proteome

Documents

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