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Q13488

- VPP3_HUMAN

UniProt

Q13488 - VPP3_HUMAN

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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: 5 out of 5- 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

  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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 385385CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei386 – 40419HelicalSequence AnalysisAdd
BLAST
Topological domaini405 – 4062VacuolarSequence Analysis
Transmembranei407 – 42317HelicalSequence AnalysisAdd
BLAST
Topological domaini424 – 43815CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei439 – 46830HelicalSequence AnalysisAdd
BLAST
Topological domaini469 – 53264VacuolarSequence AnalysisAdd
BLAST
Transmembranei533 – 55220HelicalSequence AnalysisAdd
BLAST
Topological domaini553 – 57018CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei571 – 59121HelicalSequence AnalysisAdd
BLAST
Topological domaini592 – 63544VacuolarSequence AnalysisAdd
BLAST
Transmembranei636 – 65520HelicalSequence AnalysisAdd
BLAST
Topological domaini656 – 72065CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei721 – 74525HelicalSequence AnalysisAdd
BLAST
Topological domaini746 – 76621VacuolarSequence AnalysisAdd
BLAST
Transmembranei767 – 80741HelicalSequence AnalysisAdd
BLAST
Topological domaini808 – 83023CytoplasmicSequence AnalysisAdd
BLAST

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
Complete GO annotation...

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.
Orphaneti486. Autosomal dominant severe congenital neutropenia.
667. 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

BgeeiQ13488.
CleanExiHS_TCIRG1.
ExpressionAtlasiQ13488. baseline.
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. 16 interactions.
IntActiQ13488. 2 interactions.
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

eggNOGiCOG1269.
GeneTreeiENSGT00390000004941.
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

        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

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:
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_005273709.1. [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:
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_005273709.1. [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. 16 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 486. Autosomal dominant severe congenital neutropenia.
667. Autosomal recessive malignant osteopetrosis.
PharmGKBi PA36399.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1269.
GeneTreei ENSGT00390000004941.
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

Bgeei Q13488.
CleanExi HS_TCIRG1.
ExpressionAtlasi Q13488. baseline.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 147 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