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Aliases for TCIRG1 Gene

Aliases for TCIRG1 Gene

  • T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Subunit A3 2 3
  • OC116 3 4 6
  • TIRC7 3 4 6
  • Osteoclastic Proton Pump 116 KDa Subunit 3 4
  • T-Cell Immune Response CDNA 7 2 3
  • OC-116 KDa 3 4
  • ATP6V0A3 3 4
  • ATP6N1C 3 4
  • OPTB1 3 6
  • T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Protein A Isoform 3 2
  • T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Protein A3 2
  • T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Protein A 3
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 3 4
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A 3
  • V-Type Proton ATPase 116 KDa Subunit A Isoform 3 3
  • Specific 116-KDa Vacuolar Proton Pump Subunit 3
  • V-Type Proton ATPase 116 KDa Subunit A 3
  • T-Cell Immune Response CDNA7 Protein 4
  • ATPase, H+ Transporting, 116kD 3
  • V-ATPase 116 KDa Isoform A3 4
  • T-Cell, Immune Regulator 1 2
  • T-Cell Immune Regulator 1 4
  • V-ATPase 116-KDa 3
  • OC-116kDa 3
  • Atp6i 3
  • Stv1 3
  • Vph1 3
  • A3 3

External Ids for TCIRG1 Gene

Previous GeneCards Identifiers for TCIRG1 Gene

  • GC11P070329
  • GC11P069502
  • GC11P068056
  • GC11P067581
  • GC11P067563
  • GC11P067806
  • GC11P064141

Summaries for TCIRG1 Gene

Entrez Gene Summary for TCIRG1 Gene

  • Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for TCIRG1 Gene

TCIRG1 (T-Cell, Immune Regulator 1, ATPase, H+ Transporting, Lysosomal V0 Subunit A3) is a Protein Coding gene. Diseases associated with TCIRG1 include osteopetrosis, autosomal recessive 1 and tcirg1-related autosomal recessive osteopetrosis. Among its related pathways are Signaling by GPCR and Insulin receptor signalling cascade. GO annotations related to this gene include transporter activity and hydrogen ion transmembrane transporter activity. An important paralog of this gene is ATP6V0A1.

UniProtKB/Swiss-Prot for TCIRG1 Gene

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

Gene Wiki entry for TCIRG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCIRG1 Gene

Genomics for TCIRG1 Gene

Regulatory Elements for TCIRG1 Gene

Transcription factor binding sites by QIAGEN in the TCIRG1 gene promoter:

Genomic Location for TCIRG1 Gene

Start:
68,038,995 bp from pter
End:
68,053,839 bp from pter
Size:
14,845 bases
Orientation:
Plus strand

Genomic View for TCIRG1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TCIRG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCIRG1 Gene

Proteins for TCIRG1 Gene

  • Protein details for TCIRG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13488-VPP3_HUMAN
    Recommended name:
    V-type proton ATPase 116 kDa subunit a isoform 3
    Protein Accession:
    Q13488
    Secondary Accessions:
    • O75877
    • Q8WVC5

    Protein attributes for TCIRG1 Gene

    Size:
    830 amino acids
    Molecular mass:
    92968 Da
    Quaternary structure:
    • 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

    Alternative splice isoforms for TCIRG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TCIRG1 Gene

Proteomics data for TCIRG1 Gene at MOPED

Post-translational modifications for TCIRG1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TCIRG1 Gene

No data available for DME Specific Peptides for TCIRG1 Gene

Domains for TCIRG1 Gene

Gene Families for TCIRG1 Gene

HGNC:
  • VATP :ATPases / V-type
IUPHAR :

Protein Domains for TCIRG1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13488

UniProtKB/Swiss-Prot:

VPP3_HUMAN :
  • Q13488
Family:
  • Belongs to the V-ATPase 116 kDa subunit family.
genes like me logo Genes that share domains with TCIRG1: view

Function for TCIRG1 Gene

Molecular function for TCIRG1 Gene

GENATLAS Biochemistry: T cell membrane protein essential for T cell activation,expressed in lymphocytes,with an alternative transcript OC116 (see symbol)
UniProtKB/Swiss-Prot Function: Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell activation.

Gene Ontology (GO) - Molecular Function for TCIRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 8579597
GO:0015078 hydrogen ion transmembrane transporter activity --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IBA --
GO:0051117 ATPase binding IBA --
genes like me logo Genes that share ontologies with TCIRG1: view
genes like me logo Genes that share phenotypes with TCIRG1: view

Animal Models for TCIRG1 Gene

MGI Knock Outs for TCIRG1:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TCIRG1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for TCIRG1 Gene

Localization for TCIRG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCIRG1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TCIRG1 Gene COMPARTMENTS Subcellular localization image for TCIRG1 gene
Compartment Confidence
plasma membrane 5
endosome 4
mitochondrion 2
vacuole 2
extracellular 1

Gene Ontology (GO) - Cellular Components for TCIRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain IEA --
GO:0005739 mitochondrion IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005886 plasma membrane TAS 9806637
GO:0005887 integral component of plasma membrane TAS 10329006
genes like me logo Genes that share ontologies with TCIRG1: view

Pathways for TCIRG1 Gene

genes like me logo Genes that share pathways with TCIRG1: view

Interacting Proteins for TCIRG1 Gene

Gene Ontology (GO) - Biological Process for TCIRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis TAS --
GO:0006968 cellular defense response TAS 9806637
GO:0007035 vacuolar acidification IBA --
GO:0008284 positive regulation of cell proliferation TAS 9806637
GO:0008286 insulin receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with TCIRG1: view

Compounds for TCIRG1 Gene

(4) HMDB Compounds for TCIRG1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5
genes like me logo Genes that share compounds with TCIRG1: view

Transcripts for TCIRG1 Gene

Unigene Clusters for TCIRG1 Gene

T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TCIRG1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TCIRG1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - -
SP6:
SP7: - -
SP8: - -
SP9: -
SP10:
SP11: - - -
SP12: -
SP13: -
SP14:
SP15:
SP16:
SP17:

ExUns: 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:
SP17: -

Relevant External Links for TCIRG1 Gene

GeneLoc Exon Structure for
TCIRG1
ECgene alternative splicing isoforms for
TCIRG1

Expression for TCIRG1 Gene

mRNA expression in normal human tissues for TCIRG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TCIRG1 Gene

This gene is overexpressed in Whole Blood (13.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TCIRG1 Gene

SOURCE GeneReport for Unigene cluster for TCIRG1 Gene Hs.495985

mRNA Expression by UniProt/SwissProt for TCIRG1 Gene

Q13488-VPP3_HUMAN
Tissue specificity: Isoform long is highly expressed in osteoclastomas. Isoform short is highly expressed in thymus
genes like me logo Genes that share expressions with TCIRG1: view

In Situ Assay Products

Orthologs for TCIRG1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TCIRG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCIRG1 35
  • 99.52 (n)
  • 99.76 (a)
TCIRG1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TCIRG1 35
  • 86.55 (n)
  • 86.02 (a)
TCIRG1 36
  • 62 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TCIRG1 35
  • 86.93 (n)
  • 86.13 (a)
TCIRG1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tcirg1 35
  • 82.99 (n)
  • 84.32 (a)
Tcirg1 16
Tcirg1 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TCIRG1 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 46 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Tcirg1 35
  • 82.95 (n)
  • 83.96 (a)
chicken
(Gallus gallus)
Aves TCIRG1 35
  • 71.82 (n)
  • 65.41 (a)
TCIRG1 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TCIRG1 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tcirg1 35
  • 57.03 (n)
  • 57.81 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1481 35
zebrafish
(Danio rerio)
Actinopterygii Dr.3804 35
tcirg1 36
  • 56 (a)
OneToMany
TCIRG1 (2 of 2) 36
  • 57 (a)
OneToMany
zgc:55891 35
  • 60.77 (n)
  • 59.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta Vha100-1 36
  • 42 (a)
ManyToMany
Vha100-2 36
  • 42 (a)
ManyToMany
Vha100-3 36
  • 31 (a)
ManyToMany
Vha100-4 36
  • 38 (a)
ManyToMany
Vha100-5 36
  • 40 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea unc-32 36
  • 37 (a)
ManyToMany
vha-5 36
  • 35 (a)
ManyToMany
vha-6 36
  • 37 (a)
ManyToMany
vha-7 36
  • 26 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STV1 36
  • 32 (a)
ManyToMany
VPH1 36
  • 35 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToMany
Species with no ortholog for TCIRG1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TCIRG1 Gene

ENSEMBL:
Gene Tree for TCIRG1 (if available)
TreeFam:
Gene Tree for TCIRG1 (if available)

Paralogs for TCIRG1 Gene

Paralogs for TCIRG1 Gene

genes like me logo Genes that share paralogs with TCIRG1: view

Variants for TCIRG1 Gene

Sequence variations from dbSNP and Humsavar for TCIRG1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs884826 -- 68,038,662(+) TGGGG(A/G)AGCAT upstream-variant-2KB
rs906713 -- 68,046,463(+) cacac(A/G)ctgtt intron-variant
rs1047817 -- 68,050,858(+) GACCT(C/T)TGAGG utr-variant-3-prime
rs1076558 -- 68,039,236(-) GGCGG(G/T)CTGAG intron-variant
rs1129633 -- 68,047,557(+) GTGAA(A/G)GCCGC synonymous-codon, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TCIRG1 Gene

Variant ID Type Subtype PubMed ID
nsv468606 CNV Gain 19166990
dgv394e1 CNV Complex 17122850
nsv469856 CNV Gain 16826518
nsv8836 CNV Gain 18304495
dgv1203n71 CNV Loss 21882294
dgv1204n71 CNV Loss 21882294
nsv825963 CNV Gain 20364138
nsv468615 CNV Loss 19166990
nsv469964 CNV Loss 18288195
dgv1207n71 CNV Loss 21882294
nsv897852 CNV Gain 21882294
dgv1208n71 CNV Loss 21882294
nsv897855 CNV Loss 21882294

Relevant External Links for TCIRG1 Gene

HapMap Linkage Disequilibrium report
TCIRG1
Human Gene Mutation Database (HGMD)
TCIRG1
Locus Specific Mutation Databases (LSDB)
TCIRG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCIRG1 Gene

Disorders for TCIRG1 Gene

(1) OMIM Diseases for TCIRG1 Gene (604592)

UniProtKB/Swiss-Prot

VPP3_HUMAN
  • 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. {ECO:0000269 PubMed:11532986, ECO:0000269 PubMed:12552563, ECO:0000269 PubMed:15300850}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for TCIRG1 Gene

(2) Novoseek inferred disease relationships for TCIRG1 Gene

Disease -log(P) Hits PubMed IDs
osteopetrosis, autosomal recessive 97.9 1
osteopetrosis 93 8

Relevant External Links for TCIRG1

Genetic Association Database (GAD)
TCIRG1
Human Genome Epidemiology (HuGE) Navigator
TCIRG1
genes like me logo Genes that share disorders with TCIRG1: view

Publications for TCIRG1 Gene

  1. Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation. (PMID: 10329006) Heinemann T. … Utku N. (Genomics 1999) 3 4 23
  2. The mutational spectrum of human malignant autosomal recessive osteopetrosis. (PMID: 11532986) Sobacchi C. … Villa A. (Hum. Mol. Genet. 2001) 3 4 23
  3. Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. (PMID: 12552563) Scimeca J.-C. … Carle G.F. (Hum. Mutat. 2003) 3 4 23
  4. TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. (PMID: 15300850) Susani L. … Pagani F. (Hum. Mutat. 2004) 3 4 23
  5. Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit. (PMID: 8579597) Li Y.P. … Stashenko P. (Biochem. Biophys. Res. Commun. 1996) 2 3 4

Products for TCIRG1 Gene

Sources for TCIRG1 Gene

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