Tcirg1 T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tcirg1provided by MGI
Official Full Name: T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3provided by MGI
Primary source: MGI:MGI:1350931
See related: Ensembl:ENSMUSG00000001750 AllianceGenome:MGI:1350931
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: oc; Stv1; Vph1; Atp6i; OPTB1; TIRC7; ATP6a3; OC-116; ATP6N1C
Summary: Predicted to enable ATPase binding activity. Acts upstream of or within several processes, including T cell activation; animal organ development; and cellular cation homeostasis. Located in several cellular components, including cytoplasmic vesicle; lysosome; and nucleus. Is expressed in several structures, including ciliary body; future brain; hemolymphoid system gland; metanephros; and optic choroid plus pigmented retinal epithelium. Used to study autosomal recessive osteopetrosis 1 and clubfoot. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 1. Orthologous to human TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in spleen adult (RPKM 61.8), adrenal adult (RPKM 46.6) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 3.62 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (3946050..3957717, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (3896050..3907133, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockdown of Tcirg1 inhibits large-osteoclast generation by down-regulating NFATc1 and IP3R2 expression.
Title: Knockdown of Tcirg1 inhibits large-osteoclast generation by down-regulating NFATc1 and IP3R2 expression.
a3 directly interacted with the GDP-bound forms of Rab7 and Rab27A. These findings reveal a novel role for the proton pump V-ATPase in secretory lysosome trafficking and an unexpected mechanistic link with Rab GTPases.
Title: Essential Role of the a3 Isoform of V-ATPase in Secretory Lysosome Trafficking via Rab7 Recruitment.
Here we show mice homozygous for R740S (R740S/R740S) of the Vacuolar-type H(+)-ATPases have more severe osteopetrosis and die by postnatal day 14
Title: The R740S mutation in the V-ATPase a3 subunit results in osteoclast apoptosis and defective early-stage autophagy.
Luteolin can be effective in reducing bone resorption and that this effect of luteolin may be through disruption of osteoclast V-ATPase a3-d2 interaction.
Title: Luteolin inhibition of V-ATPase a3-d2 interaction decreases osteoclast resorptive activity.
increased lysosomal pH in V ATPase a3 mutant mice osteoclasts leads to decreased NFATc1 signaling and nuclear translocation, resulting in a cell autonomous impairment of osteoclastogenesis in vitro.
Title: The R740S mutation in the V-ATPase a3 subunit increases lysosomal pH, impairs NFATc1 translocation, and decreases in vitro osteoclastogenesis.
These results demonstrate that adeno-associated virus-mediated Atp6i/TIRC7 knockdown in periapical tissues can inhibit endodontic disease development, bone resorption, and inflammation.
Title: RNA interference-mediated silencing of Atp6i prevents both periapical bone erosion and inflammation in the mouse model of endodontic disease.
The N termini of a-subunit isoforms are involved in signaling between vacuolar H+-ATPase (V-ATPase) and cytohesin-2
Title: The N termini of a-subunit isoforms are involved in signaling between vacuolar H+-ATPase (V-ATPase) and cytohesin-2.
we report for the first time on biological effects mediated by a peptide corresponding to the C-terminus of Tirc7 protein, which interfere with monocytic differentiation pathways.
Title: Monocytes differentiation upon treatment with a peptide corresponding to the C-terminus of activated T cell-expressed Tirc7 protein.
Tcirg1, which is essential for osteoclasts to pump protons into the bone, is not appreciably expressed in maturation stage mouse ameloblasts.
Title: Murine ameloblasts are immunonegative for Tcirg1, the v-H-ATPase subunit essential for the osteoclast plasma proton pump.
ocular phenotype of mice deficient in Tcirg1 function
Title: Optic nerve compression and retinal degeneration in Tcirg1 mutant mice lacking the vacuolar-type H-ATPase a3 subunit.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1)
Targeted (6) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tcirg1 (e-PCR), detects polymorphism
- UniSTS:258475

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T cell homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T-helper 1 cell activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone resorption	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to cytokine stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dentin mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within enamel mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of cell polarity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of vesicle localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hematopoietic stem cell homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homeostasis of number of cells	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within immunoglobulin mediated immune response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within immunoglobulin production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular pH reduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within macroautophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within memory T cell activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myeloid cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within odontogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within optic nerve development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within osteoclast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within osteoclast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pH reduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phagosome acidification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein catabolic process in the vacuole	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to organelle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of proton transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to silver ion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ruffle organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tooth eruption	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within type II interferon production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vacuolar acidification	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule membrane	IDA Inferred from Direct Assay more info	PubMed
part_of vacuolar proton-transporting V-type ATPase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: V-type proton ATPase 116 kDa subunit a 3

Names: ATPase, H+ transporting, lysosomal I; V-ATPase a3; osteosclerotic

NP_001129563.1

EC 7.1.2.1

NP_001161256.1

EC 7.1.2.1

NP_058617.3

EC 7.1.2.1

XP_011246934.1

EC 7.1.2.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001136091.2 → NP_001129563.1 V-type proton ATPase 116 kDa subunit a 3

See identical proteins and their annotated locations for NP_001129563.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. All three variants encode the same protein.

Source sequence(s)

AB022322, BE987533, CJ057829

Consensus CDS

CCDS29401.1

UniProtKB/TrEMBL

Q91W06, Q9JHF5, Q9JL12

Related

ENSMUSP00000001801.5, ENSMUST00000001801.11

Conserved Domains (2) summary

COG1269
Location:27 → 829

NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

pfam01496
Location:28 → 829

V_ATPase_I; V-type ATPase 116kDa subunit family
NM_001167784.1 → NP_001161256.1 V-type proton ATPase 116 kDa subunit a 3

See identical proteins and their annotated locations for NP_001161256.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longest transcript. All three variants encode the same protein.

Source sequence(s)

AB022322, AC133523, BE987533

Consensus CDS

CCDS29401.1

UniProtKB/TrEMBL

Q91W06, Q9JHF5, Q9JL12

Related

ENSMUSP00000120531.3, ENSMUST00000126070.9

Conserved Domains (2) summary

COG1269
Location:27 → 829

NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

pfam01496
Location:28 → 829

V_ATPase_I; V-type ATPase 116kDa subunit family
NM_016921.3 → NP_058617.3 V-type proton ATPase 116 kDa subunit a 3

See identical proteins and their annotated locations for NP_058617.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. All three variants encode the same protein.

Source sequence(s)

AB022322, AC133523, BE987533

Consensus CDS

CCDS29401.1

UniProtKB/TrEMBL

Q91W06, Q9JHF5, Q9JL12

Related

ENSMUSP00000122474.2, ENSMUST00000145791.8

Conserved Domains (2) summary

COG1269
Location:27 → 829

NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

pfam01496
Location:28 → 829

V_ATPase_I; V-type ATPase 116kDa subunit family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

3946050..3957717 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011248632.2 → XP_011246934.1 V-type proton ATPase 116 kDa subunit a 3 isoform X1

UniProtKB/TrEMBL

Q91W06, Q9JL12

Conserved Domains (1) summary

pfam01496
Location:27 → 680

V_ATPase_I; V-type ATPase 116kDa subunit family