UniProtKB - Q13488 (VPP3_HUMAN)
V-type proton ATPase 116 kDa subunit a3
TCIRG1
Functioni
GO - Molecular functioni
- ATPase binding Source: GO_Central
- proton-transporting ATPase activity, rotational mechanism Source: GO_Central
- transporter activity Source: ProtInc
GO - Biological processi
- apoptotic process Source: Ensembl
- autophagosome assembly Source: Ensembl
- B cell differentiation Source: Ensembl
- bone resorption Source: Ensembl
- cellular calcium ion homeostasis Source: Ensembl
- cellular defense response Source: ProtInc
- cellular response to amino acid starvation Source: Reactome
- cellular response to cytokine stimulus Source: Ensembl
- dentin mineralization Source: Ensembl
- enamel mineralization Source: Ensembl
- establishment of cell polarity Source: Ensembl
- establishment of vesicle localization Source: Ensembl
- gene expression Source: Ensembl
- hematopoietic stem cell homeostasis Source: Ensembl
- immunoglobulin mediated immune response Source: Ensembl
- inflammatory response Source: Ensembl
- insulin receptor signaling pathway Source: Reactome
- ion transmembrane transport Source: Reactome
- macroautophagy Source: ParkinsonsUK-UCL
- memory T cell activation Source: Ensembl
- neutrophil degranulation Source: Reactome
- optic nerve development Source: Ensembl
- ossification Source: Ensembl
- osteoclast differentiation Source: Ensembl
- osteoclast proliferation Source: Ensembl
- phagosome acidification Source: Reactome
- positive regulation of cell population proliferation Source: ProtInc
- protein catabolic process in the vacuole Source: ParkinsonsUK-UCL
- protein localization to organelle Source: Ensembl
- proton transmembrane transport Source: ProtInc
- regulation of gene expression Source: Ensembl
- regulation of insulin secretion Source: Ensembl
- regulation of osteoblast differentiation Source: Ensembl
- regulation of proton transport Source: Ensembl
- response to silver ion Source: Ensembl
- retina development in camera-type eye Source: Ensembl
- ruffle organization Source: Ensembl
- T cell differentiation Source: Ensembl
- T cell homeostasis Source: Ensembl
- T-helper 1 cell activation Source: Ensembl
- tooth eruption Source: Ensembl
- transferrin transport Source: Reactome
- vacuolar acidification Source: GO_Central
Keywordsi
Biological process | Hydrogen ion transport, Ion transport, Transport |
Enzyme and pathway databases
BioCyci | MetaCyc:ENSG00000110719-MONOMER |
PathwayCommonsi | Q13488 |
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 |
Names & Taxonomyi
Protein namesi | Recommended name: V-type proton ATPase 116 kDa subunit a3Short 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 |
Gene namesi | Name:TCIRG1 Synonyms:ATP6N1C, ATP6V0A3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11647, TCIRG1 |
MIMi | 604592, gene |
neXtProti | NX_Q13488 |
VEuPathDBi | HostDB:ENSG00000110719.9 |
Subcellular locationi
Other locations
- Membrane By similarity; Multi-pass membrane protein By similarity
Endosome
- endosome membrane Source: Reactome
- late endosome Source: Ensembl
Lysosome
- lysosomal membrane Source: UniProtKB
Nucleus
- nucleus Source: Ensembl
Plasma Membrane
- apical plasma membrane Source: UniProtKB
- integral component of plasma membrane Source: ProtInc
- plasma membrane Source: GO_Central
Other locations
- ficolin-1-rich granule membrane Source: Reactome
- phagocytic vesicle membrane Source: Reactome
- vacuolar proton-transporting V-type ATPase complex Source: GO_Central
- vacuolar proton-transporting V-type ATPase, V0 domain Source: InterPro
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 385 | CytoplasmicSequence analysisAdd BLAST | 385 | |
Transmembranei | 386 – 404 | HelicalSequence analysisAdd BLAST | 19 | |
Topological domaini | 405 – 406 | VacuolarSequence analysis | 2 | |
Transmembranei | 407 – 423 | HelicalSequence analysisAdd BLAST | 17 | |
Topological domaini | 424 – 438 | CytoplasmicSequence analysisAdd BLAST | 15 | |
Transmembranei | 439 – 468 | HelicalSequence analysisAdd BLAST | 30 | |
Topological domaini | 469 – 532 | VacuolarSequence analysisAdd BLAST | 64 | |
Transmembranei | 533 – 552 | HelicalSequence analysisAdd BLAST | 20 | |
Topological domaini | 553 – 570 | CytoplasmicSequence analysisAdd BLAST | 18 | |
Transmembranei | 571 – 591 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 592 – 635 | VacuolarSequence analysisAdd BLAST | 44 | |
Transmembranei | 636 – 655 | HelicalSequence analysisAdd BLAST | 20 | |
Topological domaini | 656 – 720 | CytoplasmicSequence analysisAdd BLAST | 65 | |
Transmembranei | 721 – 745 | HelicalSequence analysisAdd BLAST | 25 | |
Topological domaini | 746 – 766 | VacuolarSequence analysisAdd BLAST | 21 | |
Transmembranei | 767 – 807 | HelicalSequence analysisAdd BLAST | 41 | |
Topological domaini | 808 – 830 | CytoplasmicSequence analysisAdd BLAST | 23 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Osteopetrosis, autosomal recessive 1 (OPTB1)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_020988 | 141 | A → P in OPTB1. 1 Publication | 1 | |
Natural variantiVAR_019569 | 405 | G → R in OPTB1. 3 PublicationsCorresponds to variant dbSNP:rs137853150EnsemblClinVar. | 1 | |
Natural variantiVAR_019570 | 444 | R → L in OPTB1. 1 PublicationCorresponds to variant dbSNP:rs137853151EnsemblClinVar. | 1 | |
Natural variantiVAR_020989 | 462 | Missing in OPTB1. 1 PublicationCorresponds to variant dbSNP:rs771271907Ensembl. | 1 | |
Natural variantiVAR_020990 | 517 | D → N in OPTB1. 1 PublicationCorresponds to variant dbSNP:rs369264588Ensembl. | 1 | |
Natural variantiVAR_020991 | 775 | P → R in OPTB1. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, OsteopetrosisOrganism-specific databases
DisGeNETi | 10312 |
MalaCardsi | TCIRG1 |
MIMi | 259700, phenotype |
OpenTargetsi | ENSG00000110719 |
Orphaneti | 486, Autosomal dominant severe congenital neutropenia 667, Autosomal recessive malignant osteopetrosis 1782, Dysosteosclerosis 210110, Intermediate osteopetrosis |
PharmGKBi | PA36399 |
Miscellaneous databases
Pharosi | Q13488, Tbio |
Chemistry databases
DrugBanki | DB01133, Tiludronic acid |
DrugCentrali | Q13488 |
Genetic variation databases
BioMutai | TCIRG1 |
DMDMi | 223634720 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000119218 | 1 – 830 | V-type proton ATPase 116 kDa subunit a3Add BLAST | 830 |
Proteomic databases
EPDi | Q13488 |
jPOSTi | Q13488 |
MassIVEi | Q13488 |
MaxQBi | Q13488 |
PaxDbi | Q13488 |
PeptideAtlasi | Q13488 |
PRIDEi | Q13488 |
ProteomicsDBi | 59481 [Q13488-1] 59482 [Q13488-2] |
PTM databases
iPTMneti | Q13488 |
PhosphoSitePlusi | Q13488 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000110719, Expressed in blood and 117 other tissues |
ExpressionAtlasi | Q13488, baseline and differential |
Genevisiblei | Q13488, HS |
Organism-specific databases
HPAi | ENSG00000110719, Low tissue specificity |
Interactioni
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''.
Binary interactionsi
Hide detailsGO - Molecular functioni
- ATPase binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 115597, 36 interactors |
IntActi | Q13488, 14 interactors |
STRINGi | 9606.ENSP00000265686 |
Miscellaneous databases
RNActi | Q13488, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2189, Eukaryota |
GeneTreei | ENSGT00950000182881 |
HOGENOMi | CLU_005230_0_0_1 |
InParanoidi | Q13488 |
OMAi | CDCFRTQ |
OrthoDBi | 24858at2759 |
PhylomeDBi | Q13488 |
TreeFami | TF300346 |
Family and domain databases
InterProi | View protein in InterPro IPR002490, V-ATPase_116kDa_su IPR026028, V-type_ATPase_116kDa_su_euka |
PANTHERi | PTHR11629, PTHR11629, 1 hit |
Pfami | View protein in Pfam PF01496, V_ATPase_I, 1 hit |
PIRSFi | PIRSF001293, ATP6V0A1, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
The sequence of this isoform differs from the canonical sequence as follows:
1-216: Missing.
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PNA6 | E9PNA6_HUMAN | V-type proton ATPase subunit a | TCIRG1 | 299 | Annotation score: | ||
E9PMC5 | E9PMC5_HUMAN | V-type proton ATPase subunit a | TCIRG1 | 174 | Annotation score: | ||
E9PM12 | E9PM12_HUMAN | V-type proton ATPase subunit a | TCIRG1 | 217 | Annotation score: | ||
H0YCE3 | H0YCE3_HUMAN | V-type proton ATPase subunit a | TCIRG1 | 290 | Annotation score: | ||
H0YEL3 | H0YEL3_HUMAN | V-type proton ATPase subunit a | TCIRG1 | 104 | Annotation score: | ||
Q8TCH1 | Q8TCH1_HUMAN | V-type proton ATPase subunit a | TCIRG1 | 61 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 377 | A → R in AAA97878 (PubMed:8579597).Curated | 1 | |
Sequence conflicti | 603 | Missing in AAA97878 (PubMed:8579597).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054340 | 56 | R → W. Corresponds to variant dbSNP:rs36027301EnsemblClinVar. | 1 | |
Natural variantiVAR_020988 | 141 | A → P in OPTB1. 1 Publication | 1 | |
Natural variantiVAR_054341 | 161 | P → L. Corresponds to variant dbSNP:rs34227834EnsemblClinVar. | 1 | |
Natural variantiVAR_019569 | 405 | G → R in OPTB1. 3 PublicationsCorresponds to variant dbSNP:rs137853150EnsemblClinVar. | 1 | |
Natural variantiVAR_019570 | 444 | R → L in OPTB1. 1 PublicationCorresponds to variant dbSNP:rs137853151EnsemblClinVar. | 1 | |
Natural variantiVAR_020989 | 462 | Missing in OPTB1. 1 PublicationCorresponds to variant dbSNP:rs771271907Ensembl. | 1 | |
Natural variantiVAR_020990 | 517 | D → N in OPTB1. 1 PublicationCorresponds to variant dbSNP:rs369264588Ensembl. | 1 | |
Natural variantiVAR_020991 | 775 | P → R in OPTB1. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000345 | 1 – 216 | Missing in isoform Short. 1 PublicationAdd BLAST | 216 |
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 |
CCDSi | CCDS53670.1 [Q13488-2] CCDS8177.1 [Q13488-1] |
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
Ensembli | ENST00000265686; ENSP00000265686; ENSG00000110719 [Q13488-1] ENST00000532635; ENSP00000434407; ENSG00000110719 [Q13488-2] |
GeneIDi | 10312 |
KEGGi | hsa:10312 |
UCSCi | uc001one.4, human [Q13488-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS53670.1 [Q13488-2] CCDS8177.1 [Q13488-1] |
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 |
3D structure databases
SMRi | Q13488 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115597, 36 interactors |
IntActi | Q13488, 14 interactors |
STRINGi | 9606.ENSP00000265686 |
Chemistry databases
DrugBanki | DB01133, Tiludronic acid |
DrugCentrali | Q13488 |
PTM databases
iPTMneti | Q13488 |
PhosphoSitePlusi | Q13488 |
Genetic variation databases
BioMutai | TCIRG1 |
DMDMi | 223634720 |
Proteomic databases
EPDi | Q13488 |
jPOSTi | Q13488 |
MassIVEi | Q13488 |
MaxQBi | Q13488 |
PaxDbi | Q13488 |
PeptideAtlasi | Q13488 |
PRIDEi | Q13488 |
ProteomicsDBi | 59481 [Q13488-1] 59482 [Q13488-2] |
Protocols and materials databases
Antibodypediai | 30523, 92 antibodies |
DNASUi | 10312 |
Genome annotation databases
Ensembli | ENST00000265686; ENSP00000265686; ENSG00000110719 [Q13488-1] ENST00000532635; ENSP00000434407; ENSG00000110719 [Q13488-2] |
GeneIDi | 10312 |
KEGGi | hsa:10312 |
UCSCi | uc001one.4, human [Q13488-1] |
Organism-specific databases
CTDi | 10312 |
DisGeNETi | 10312 |
GeneCardsi | TCIRG1 |
HGNCi | HGNC:11647, TCIRG1 |
HPAi | ENSG00000110719, Low tissue specificity |
MalaCardsi | TCIRG1 |
MIMi | 259700, phenotype 604592, gene |
neXtProti | NX_Q13488 |
OpenTargetsi | ENSG00000110719 |
Orphaneti | 486, Autosomal dominant severe congenital neutropenia 667, Autosomal recessive malignant osteopetrosis 1782, Dysosteosclerosis 210110, Intermediate osteopetrosis |
PharmGKBi | PA36399 |
VEuPathDBi | HostDB:ENSG00000110719.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2189, Eukaryota |
GeneTreei | ENSGT00950000182881 |
HOGENOMi | CLU_005230_0_0_1 |
InParanoidi | Q13488 |
OMAi | CDCFRTQ |
OrthoDBi | 24858at2759 |
PhylomeDBi | Q13488 |
TreeFami | TF300346 |
Enzyme and pathway databases
BioCyci | MetaCyc:ENSG00000110719-MONOMER |
PathwayCommonsi | Q13488 |
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 |
Miscellaneous databases
BioGRID-ORCSi | 10312, 10 hits in 993 CRISPR screens |
ChiTaRSi | TCIRG1, human |
GeneWikii | TCIRG1 |
GenomeRNAii | 10312 |
Pharosi | Q13488, Tbio |
PROi | PR:Q13488 |
RNActi | Q13488, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000110719, Expressed in blood and 117 other tissues |
ExpressionAtlasi | Q13488, baseline and differential |
Genevisiblei | Q13488, HS |
Family and domain databases
InterProi | View protein in InterPro IPR002490, V-ATPase_116kDa_su IPR026028, V-type_ATPase_116kDa_su_euka |
PANTHERi | PTHR11629, PTHR11629, 1 hit |
Pfami | View protein in Pfam PF01496, V_ATPase_I, 1 hit |
PIRSFi | PIRSF001293, ATP6V0A1, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | VPP3_HUMAN | |
Accessioni | Q13488Primary (citable) accession number: Q13488 Secondary accession number(s): O75877, Q8WVC5 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families