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UniProtKB - Q13488 (VPP3_HUMAN)

Protein

V-type proton ATPase 116 kDa subunit a isoform 3

Gene

TCIRG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell activation.By similarity

GO - Molecular functioni

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

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processHydrogen ion transport, Ion transport, Transport

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

Names & Taxonomyi

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
Gene namesi
Name:TCIRG1
Synonyms:ATP6N1C, ATP6V0A3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000110719.9
HGNCiHGNC:11647 TCIRG1
MIMi604592 gene
neXtProtiNX_Q13488

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
Topological domaini1 – 385CytoplasmicSequence analysisAdd BLAST385
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

Pathology & Biotechi

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
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

DisGeNETi10312
MalaCardsiTCIRG1
MIMi259700 phenotype
OpenTargetsiENSG00000110719
Orphaneti486 Autosomal dominant severe congenital neutropenia
667 Autosomal recessive malignant osteopetrosis
210110 Intermediate osteopetrosis
PharmGKBiPA36399

Polymorphism and mutation databases

BioMutaiTCIRG1
DMDMi223634720

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001192181 – 830V-type proton ATPase 116 kDa subunit a isoform 3Add BLAST830

Proteomic databases

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

PTM databases

iPTMnetiQ13488
PhosphoSitePlusiQ13488

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000110719 Expressed in 95 organ(s), highest expression level in blood
CleanExiHS_TCIRG1
ExpressionAtlasiQ13488 baseline and differential
GenevisibleiQ13488 HS

Organism-specific databases

HPAiHPA038742

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''.

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi115597, 21 interactors
IntActiQ13488, 8 interactors
STRINGi9606.ENSP00000265686

Structurei

3D structure databases

ProteinModelPortaliQ13488
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2189 Eukaryota
COG1269 LUCA
GeneTreeiENSGT00390000004941
HOGENOMiHOG000037059
HOVERGENiHBG014606
InParanoidiQ13488
KOiK02154
OMAiMTFLISY
OrthoDBiEOG091G031W
PhylomeDBiQ13488
TreeFamiTF300346

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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 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
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

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YCE3H0YCE3_HUMAN
V-type proton ATPase subunit a
TCIRG1
290Annotation score:
E9PMC5E9PMC5_HUMAN
V-type proton ATPase subunit a
TCIRG1
174Annotation score:
E9PNA6E9PNA6_HUMAN
V-type proton ATPase subunit a
TCIRG1
299Annotation score:
E9PM12E9PM12_HUMAN
V-type proton ATPase subunit a
TCIRG1
217Annotation score:
H0YEL3H0YEL3_HUMAN
V-type proton ATPase subunit a
TCIRG1
104Annotation score:
Q8TCH1Q8TCH1_HUMAN
V-type proton ATPase subunit a
TCIRG1
61Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Alternative sequenceiVSP_0003451 – 216Missing in isoform Short. 1 PublicationAdd BLAST216

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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
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

DNASUi10312
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

CTDi10312
DisGeNETi10312
EuPathDBiHostDB:ENSG00000110719.9
GeneCardsiTCIRG1
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
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2189 Eukaryota
COG1269 LUCA
GeneTreeiENSGT00390000004941
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

ChiTaRSiTCIRG1 human
GeneWikiiTCIRG1
GenomeRNAii10312
PROiPR:Q13488
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiVPP3_HUMAN
AccessioniPrimary (citable) accession number: Q13488
Secondary accession number(s): O75877, Q8WVC5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: February 10, 2009
Last modified: November 7, 2018
This is version 178 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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