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Q13488

- VPP3_HUMAN

UniProt

Q13488 - VPP3_HUMAN

Protein

V-type proton ATPase 116 kDa subunit a isoform 3

Gene

TCIRG1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 146 (01 Oct 2014)
      Sequence version 3 (10 Feb 2009)
      Previous versions | rss
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    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

    1. hydrogen ion transmembrane transporter activity Source: InterPro
    2. transporter activity Source: ProtInc

    GO - Biological processi

    1. ATP hydrolysis coupled proton transport Source: InterPro
    2. cellular defense response Source: ProtInc
    3. cellular iron ion homeostasis Source: Reactome
    4. insulin receptor signaling pathway Source: Reactome
    5. interaction with host Source: Reactome
    6. phagosome maturation Source: Reactome
    7. positive regulation of cell proliferation Source: ProtInc
    8. proton transport Source: ProtInc
    9. transferrin transport Source: Reactome
    10. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Hydrogen ion transport, Ion transport, Transport

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000110719-MONOMER.
    ReactomeiREACT_1109. Insulin receptor recycling.
    REACT_121256. Phagosomal maturation (early endosomal stage).
    REACT_25283. Transferrin endocytosis and recycling.

    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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:11647. TCIRG1.

    Subcellular locationi

    Membrane By similarity; Multi-pass membrane protein By similarity

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB
    2. endosome membrane Source: Reactome
    3. integral component of plasma membrane Source: ProtInc
    4. lysosomal membrane Source: UniProtKB
    5. mitochondrion Source: Ensembl
    6. phagocytic vesicle membrane Source: Reactome
    7. plasma membrane Source: ProtInc
    8. vacuolar proton-transporting V-type ATPase, V0 domain Source: InterPro

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700]: A 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti141 – 1411A → P in OPTB1. 1 Publication
    VAR_020988
    Natural varianti405 – 4051G → R in OPTB1. 3 Publications
    VAR_019569
    Natural varianti444 – 4441R → L in OPTB1. 1 Publication
    VAR_019570
    Natural varianti462 – 4621Missing in OPTB1. 1 Publication
    VAR_020989
    Natural varianti517 – 5171D → N in OPTB1. 1 Publication
    VAR_020990
    Natural varianti775 – 7751P → R in OPTB1. 1 Publication
    VAR_020991

    Keywords - Diseasei

    Disease mutation, Osteopetrosis

    Organism-specific databases

    MIMi259700. phenotype.
    Orphaneti667. Autosomal recessive malignant osteopetrosis.
    PharmGKBiPA36399.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 830830V-type proton ATPase 116 kDa subunit a isoform 3PRO_0000119218Add
    BLAST

    Proteomic databases

    MaxQBiQ13488.
    PaxDbiQ13488.
    PRIDEiQ13488.

    PTM databases

    PhosphoSiteiQ13488.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiQ13488.
    BgeeiQ13488.
    CleanExiHS_TCIRG1.
    GenevestigatoriQ13488.

    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''.

    Protein-protein interaction databases

    BioGridi115597. 15 interactions.
    IntActiQ13488. 2 interactions.
    STRINGi9606.ENSP00000265686.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13488.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 385385CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini405 – 4062VacuolarSequence Analysis
    Topological domaini424 – 43815CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini469 – 53264VacuolarSequence AnalysisAdd
    BLAST
    Topological domaini553 – 57018CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini592 – 63544VacuolarSequence AnalysisAdd
    BLAST
    Topological domaini656 – 72065CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini746 – 76621VacuolarSequence AnalysisAdd
    BLAST
    Topological domaini808 – 83023CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei386 – 40419HelicalSequence AnalysisAdd
    BLAST
    Transmembranei407 – 42317HelicalSequence AnalysisAdd
    BLAST
    Transmembranei439 – 46830HelicalSequence AnalysisAdd
    BLAST
    Transmembranei533 – 55220HelicalSequence AnalysisAdd
    BLAST
    Transmembranei571 – 59121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei636 – 65520HelicalSequence AnalysisAdd
    BLAST
    Transmembranei721 – 74525HelicalSequence AnalysisAdd
    BLAST
    Transmembranei767 – 80741HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1269.
    HOGENOMiHOG000037059.
    HOVERGENiHBG014606.
    InParanoidiQ13488.
    KOiK02154.
    OMAiGVTHMAF.
    OrthoDBiEOG754HNQ.
    PhylomeDBiQ13488.
    TreeFamiTF300346.

    Family and domain databases

    InterProiIPR002490. V-ATPase_116kDa_su.
    IPR026028. V-type_ATPase_116kDa_su_euka.
    [Graphical view]
    PANTHERiPTHR11629. PTHR11629. 1 hit.
    PfamiPF01496. V_ATPase_I. 1 hit.
    [Graphical view]
    PIRSFiPIRSF001293. ATP6V0A1. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MGSMFRSEEV ALVQLFLPTA AAYTCVSRLG ELGLVEFRDL NASVSAFQRR    50
    FVVDVRRCEE LEKTFTFLQE EVRRAGLVLP PPKGRLPAPP PRDLLRIQEE 100
    TERLAQELRD VRGNQQALRA QLHQLQLHAA VLRQGHEPQL AAAHTDGASE 150
    RTPLLQAPGG PHQDLRVNFV AGAVEPHKAP ALERLLWRAC RGFLIASFRE 200
    LEQPLEHPVT GEPATWMTFL ISYWGEQIGQ KIRKITDCFH CHVFPFLQQE 250
    EARLGALQQL QQQSQELQEV LGETERFLSQ VLGRVLQLLP PGQVQVHKMK 300
    AVYLALNQCS VSTTHKCLIA EAWCSVRDLP ALQEALRDSS MEEGVSAVAH 350
    RIPCRDMPPT LIRTNRFTAS FQGIVDAYGV GRYQEVNPAP YTIITFPFLF 400
    AVMFGDVGHG LLMFLFALAM VLAENRPAVK AAQNEIWQTF FRGRYLLLLM 450
    GLFSIYTGFI YNECFSRATS IFPSGWSVAA MANQSGWSDA FLAQHTMLTL 500
    DPNVTGVFLG PYPFGIDPIW SLAANHLSFL NSFKMKMSVI LGVVHMAFGV 550
    VLGVFNHVHF GQRHRLLLET LPELTFLLGL FGYLVFLVIY KWLCVWAARA 600
    ASAPSILIHF INMFLFSHSP SNRLLYPRQE VVQATLVVLA LAMVPILLLG 650
    TPLHLLHRHR RRLRRRPADR QEENKAGLLD LPDASVNGWS SDEEKAGGLD 700
    DEEEAELVPS EVLMHQAIHT IEFCLGCVSN TASYLRLWAL SLAHAQLSEV 750
    LWAMVMRIGL GLGREVGVAA VVLVPIFAAF AVMTVAILLV MEGLSAFLHA 800
    LRLHWVEFQN KFYSGTGYKL SPFTFAATDD 830
    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti377 – 3771A → R in AAA97878. (PubMed:8579597)Curated
    Sequence conflicti603 – 6031Missing in AAA97878. (PubMed:8579597)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti56 – 561R → W.
    Corresponds to variant rs36027301 [ dbSNP | Ensembl ].
    VAR_054340
    Natural varianti141 – 1411A → P in OPTB1. 1 Publication
    VAR_020988
    Natural varianti161 – 1611P → L.
    Corresponds to variant rs34227834 [ dbSNP | Ensembl ].
    VAR_054341
    Natural varianti405 – 4051G → R in OPTB1. 3 Publications
    VAR_019569
    Natural varianti444 – 4441R → L in OPTB1. 1 Publication
    VAR_019570
    Natural varianti462 – 4621Missing in OPTB1. 1 Publication
    VAR_020989
    Natural varianti517 – 5171D → N in OPTB1. 1 Publication
    VAR_020990
    Natural varianti775 – 7751P → R in OPTB1. 1 Publication
    VAR_020991

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 216216Missing in isoform Short. 1 PublicationVSP_000345Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_005273709.1. [Q13488-1]
    XP_006718480.1. XM_006718417.1. [Q13488-1]
    UniGeneiHs.495985.

    Genome annotation databases

    EnsembliENST00000265686; ENSP00000265686; ENSG00000110719. [Q13488-1]
    ENST00000532635; ENSP00000434407; ENSG00000110719. [Q13488-2]
    GeneIDi10312.
    KEGGihsa:10312.
    UCSCiuc001one.3. human. [Q13488-1]

    Polymorphism databases

    DMDMi223634720.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    TCIRG1base

    TCIRG1 mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_005273709.1. [Q13488-1 ]
    XP_006718480.1. XM_006718417.1. [Q13488-1 ]
    UniGenei Hs.495985.

    3D structure databases

    ProteinModelPortali Q13488.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115597. 15 interactions.
    IntActi Q13488. 2 interactions.
    STRINGi 9606.ENSP00000265686.

    PTM databases

    PhosphoSitei Q13488.

    Polymorphism databases

    DMDMi 223634720.

    Proteomic databases

    MaxQBi Q13488.
    PaxDbi Q13488.
    PRIDEi Q13488.

    Protocols and materials databases

    DNASUi 10312.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265686 ; ENSP00000265686 ; ENSG00000110719 . [Q13488-1 ]
    ENST00000532635 ; ENSP00000434407 ; ENSG00000110719 . [Q13488-2 ]
    GeneIDi 10312.
    KEGGi hsa:10312.
    UCSCi uc001one.3. human. [Q13488-1 ]

    Organism-specific databases

    CTDi 10312.
    GeneCardsi GC11P067806.
    HGNCi HGNC:11647. TCIRG1.
    HPAi HPA038742.
    MIMi 259700. phenotype.
    604592. gene.
    neXtProti NX_Q13488.
    Orphaneti 667. Autosomal recessive malignant osteopetrosis.
    PharmGKBi PA36399.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1269.
    HOGENOMi HOG000037059.
    HOVERGENi HBG014606.
    InParanoidi Q13488.
    KOi K02154.
    OMAi GVTHMAF.
    OrthoDBi EOG754HNQ.
    PhylomeDBi Q13488.
    TreeFami TF300346.

    Enzyme and pathway databases

    BioCyci MetaCyc:ENSG00000110719-MONOMER.
    Reactomei REACT_1109. Insulin receptor recycling.
    REACT_121256. Phagosomal maturation (early endosomal stage).
    REACT_25283. Transferrin endocytosis and recycling.

    Miscellaneous databases

    ChiTaRSi TCIRG1. human.
    GeneWikii TCIRG1.
    GenomeRNAii 10312.
    NextBioi 39079.
    PROi Q13488.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13488.
    Bgeei Q13488.
    CleanExi HS_TCIRG1.
    Genevestigatori Q13488.

    Family and domain databases

    InterProi IPR002490. V-ATPase_116kDa_su.
    IPR026028. V-type_ATPase_116kDa_su_euka.
    [Graphical view ]
    PANTHERi PTHR11629. PTHR11629. 1 hit.
    Pfami PF01496. V_ATPase_I. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF001293. ATP6V0A1. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit."
      Li Y.P., Chen W., Stashenko P.
      Biochem. Biophys. Res. Commun. 218:813-821(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
      Tissue: Osteoclastoma.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
    3. "Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation."
      Heinemann T., Bulwin G.C., Randall J., Schnieders B., Sandhoff K., Volk H.D., Milford E., Gullans S.R., Utku N.
      Genomics 57:398-406(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT).
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
      Tissue: Lung and Pancreas.
    6. Cited for: VARIANTS OPTB1 ARG-405 AND LEU-444.
    7. "Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis."
      Scimeca J.-C., Quincey D., Parrinello H., Romatet D., Grosgeorge J., Gaudray P., Philip N., Fischer A., Carle G.F.
      Hum. Mutat. 21:151-157(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OPTB1 ARG-405.
    8. "TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA."
      Susani L., Pangrazio A., Sobacchi C., Taranta A., Mortier G., Savarirayan R., Villa A., Orchard P., Vezzoni P., Albertini A., Frattini A., Pagani F.
      Hum. Mutat. 24:225-235(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OPTB1 PRO-141; ARG-405; ASN-462 DEL; ASN-517 AND ARG-775.

    Entry informationi

    Entry nameiVPP3_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 146 of the entry and version 3 of the sequence. [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. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3