Entity Details

Primary name TCIRG1
Entity type gene
Source Source Link

Details

PrimaryID10312
RefseqGeneNG_007878
SymbolTCIRG1
NameT cell immune regulator 1, ATPase H+ transporting V0 subunit a3
Chromosome11
Location11q13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-06-07
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsVPP3_HUMAN

GO terms

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GOName
GO:0000045 autophagosome assembly
GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain
GO:0001503 ossification
GO:0002158 osteoclast proliferation
GO:0005215 transporter activity
GO:0005634 nucleus
GO:0005765 lysosomal membrane
GO:0005770 late endosome
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006874 cellular calcium ion homeostasis
GO:0006915 apoptotic process
GO:0006954 inflammatory response
GO:0006968 cellular defense response
GO:0007035 vacuolar acidification
GO:0007039 protein catabolic process in the vacuole
GO:0008284 positive regulation of cell population proliferation
GO:0008286 insulin receptor signaling pathway
GO:0010008 endosome membrane
GO:0010155 regulation of proton transport
GO:0010272 response to silver ion
GO:0010467 gene expression
GO:0010468 regulation of gene expression
GO:0016064 immunoglobulin mediated immune response
GO:0016236 macroautophagy
GO:0016324 apical plasma membrane
GO:0016471 vacuolar proton-transporting V-type ATPase complex
GO:0021554 optic nerve development
GO:0030010 establishment of cell polarity
GO:0030183 B cell differentiation
GO:0030217 T cell differentiation
GO:0030316 osteoclast differentiation
GO:0030670 phagocytic vesicle membrane
GO:0031529 ruffle organization
GO:0033365 protein localization to organelle
GO:0033572 transferrin transport
GO:0034198 cellular response to amino acid starvation
GO:0034220 ion transmembrane transport
GO:0035709 memory T cell activation
GO:0035711 T-helper 1 cell activation
GO:0043029 T cell homeostasis
GO:0043312 neutrophil degranulation
GO:0044691 tooth eruption
GO:0045453 bone resorption
GO:0045667 regulation of osteoblast differentiation
GO:0046961 proton-transporting ATPase activity, rotational mechanism
GO:0050796 regulation of insulin secretion
GO:0051117 ATPase binding
GO:0051650 establishment of vesicle localization
GO:0060041 retina development in camera-type eye
GO:0061484 hematopoietic stem cell homeostasis
GO:0070166 enamel mineralization
GO:0071345 cellular response to cytokine stimulus
GO:0090383 phagosome acidification
GO:0097188 dentin mineralization
GO:0101003 ficolin-1-rich granule membrane
GO:1902600 proton transmembrane transport

Diseases

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Disease IDSourceNameDescription
259700 OMIMOsteopetrosis, autosomal recessive 1 (OPTB1)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. The disease is caused by variants affecting the gene represented in this entry.