• Gene id: 10312

Gene Summary

• Gene Symbol: TCIRG1   Gene   UCSC   Ensembl
• Aliases: ATP6N1C, ATP6V0A3, Atp6i, OC-116kDa, OC116, OPTB1, Stv1, TIRC7, Vph1, a3
• Gene name: T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
• Alternate names: V-type proton ATPase 116 kDa subunit a isoform 3, V-type proton ATPase 116 kDa subunit a, ATPase, H+ transporting, 116kD, T-cell immune response cDNA 7, T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a, T-cell, immune regulator 1, AT,
• Gene location: 11q13.2 (68038999: 68053845)     Exons: 22     NC_000011.10
• Gene summary(Entrez): This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environm

Protein Summary

• Protein general information: Q13488  
  • Name: V type proton ATPase 116 kDa subunit a isoform 3 (V ATPase 116 kDa isoform a3) (Osteoclastic proton pump 116 kDa subunit) (OC 116 kDa) (OC116) (T cell immune regulator 1) (T cell immune response cDNA7 protein) (TIRC7) (Vacuolar proton translocating ATPase
  • Length: 830  
  • Mass: 92968
  • Tissue specificity: Isoform long is highly expressed in osteoclastomas. Isoform short is highly expressed in thymus.
• Sequence:

  MGSMFRSEEVALVQLFLPTAAAYTCVSRLGELGLVEFRDLNASVSAFQRRFVVDVRRCEELEKTFTFLQEEVRRA
  GLVLPPPKGRLPAPPPRDLLRIQEETERLAQELRDVRGNQQALRAQLHQLQLHAAVLRQGHEPQLAAAHTDGASE
  RTPLLQAPGGPHQDLRVNFVAGAVEPHKAPALERLLWRACRGFLIASFRELEQPLEHPVTGEPATWMTFLISYWG
  EQIGQKIRKITDCFHCHVFPFLQQEEARLGALQQLQQQSQELQEVLGETERFLSQVLGRVLQLLPPGQVQVHKMK
  AVYLALNQCSVSTTHKCLIAEAWCSVRDLPALQEALRDSSMEEGVSAVAHRIPCRDMPPTLIRTNRFTASFQGIV
  DAYGVGRYQEVNPAPYTIITFPFLFAVMFGDVGHGLLMFLFALAMVLAENRPAVKAAQNEIWQTFFRGRYLLLLM
  GLFSIYTGFIYNECFSRATSIFPSGWSVAAMANQSGWSDAFLAQHTMLTLDPNVTGVFLGPYPFGIDPIWSLAAN
  HLSFLNSFKMKMSVILGVVHMAFGVVLGVFNHVHFGQRHRLLLETLPELTFLLGLFGYLVFLVIYKWLCVWAARA
  ASAPSILIHFINMFLFSHSPSNRLLYPRQEVVQATLVVLALAMVPILLLGTPLHLLHRHRRRLRRRPADRQEENK
  AGLLDLPDASVNGWSSDEEKAGGLDDEEEAELVPSEVLMHQAIHTIEFCLGCVSNTASYLRLWALSLAHAQLSEV
  LWAMVMRIGLGLGREVGVAAVVLVPIFAAFAVMTVAILLVMEGLSAFLHALRLHWVEFQNKFYSGTGYKLSPFTF
  AATDD

• Structural information:
  • Interpro: IPR002490  IPR026028  
  • STRING: ENSP00000265686
• Other Databases: GeneCards:  TCIRG1  Malacards:  TCIRG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007039	protein catabolic process in the vacuole	ISS	biological process
GO:0016236	macroautophagy	ISS	biological process
GO:0051117	ATPase binding	IBA	molecular function
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IBA	cellular component
GO:0007035	vacuolar acidification	IBA	biological process
GO:0033179	proton-transporting V-type ATPase, V0 domain	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0000220	vacuolar proton-transporting V-type ATPase, V0 domain	IEA	cellular component
GO:0015078	proton transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005215	transporter activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006968	cellular defense response	TAS	biological process
GO:0008284	positive regulation of cell population proliferation	TAS	biological process
GO:1902600	proton transmembrane transport	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0090383	phagosome acidification	TAS	biological process
GO:0101003	ficolin-1-rich granule membrane	TAS	cellular component
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0033572	transferrin transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072643	interferon-gamma secretion	IEA	biological process
GO:0061484	hematopoietic stem cell homeostasis	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0051650	establishment of vesicle localization	IEA	biological process
GO:0045667	regulation of osteoblast differentiation	IEA	biological process
GO:0043029	T cell homeostasis	IEA	biological process
GO:0035711	T-helper 1 cell activation	IEA	biological process
GO:0030183	B cell differentiation	IEA	biological process
GO:0030099	myeloid cell differentiation	IEA	biological process
GO:0030010	establishment of cell polarity	IEA	biological process
GO:0010272	response to silver ion	IEA	biological process
GO:0010155	regulation of proton transport	IEA	biological process
GO:0007039	protein catabolic process in the vacuole	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0002377	immunoglobulin production	IEA	biological process
GO:0002158	osteoclast proliferation	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0097188	dentin mineralization	IEA	biological process
GO:0090383	phagosome acidification	IEA	biological process
GO:0071345	cellular response to cytokine stimulus	IEA	biological process
GO:0070166	enamel mineralization	IEA	biological process
GO:0051452	intracellular pH reduction	IEA	biological process
GO:0050796	regulation of insulin secretion	IEA	biological process
GO:0048872	homeostasis of number of cells	IEA	biological process
GO:0045851	pH reduction	IEA	biological process
GO:0045453	bone resorption	IEA	biological process
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0044691	tooth eruption	IEA	biological process
GO:0042476	odontogenesis	IEA	biological process
GO:0035709	memory T cell activation	IEA	biological process
GO:0033365	protein localization to organelle	IEA	biological process
GO:0031529	ruffle organization	IEA	biological process
GO:0030670	phagocytic vesicle membrane	IEA	cellular component
GO:0030667	secretory granule membrane	IEA	cellular component
GO:0030316	osteoclast differentiation	IEA	biological process
GO:0030217	T cell differentiation	IEA	biological process
GO:0021554	optic nerve development	IEA	biological process
GO:0016236	macroautophagy	IEA	biological process
GO:0016064	immunoglobulin mediated immune response	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010467	gene expression	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006914	autophagy	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000045	autophagosome assembly	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05165	Human papillomavirus infection
hsa00190	Oxidative phosphorylation
hsa05152	Tuberculosis
hsa04145	Phagosome
hsa04142	Lysosome
hsa04721	Synaptic vesicle cycle
hsa05323	Rheumatoid arthritis
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa05110	Vibrio cholerae infection
hsa04966	Collecting duct acid secretion

Diseases

Associated diseases	References
Osteopetrosis	KEGG:H00436
Osteopetrosis	KEGG:H00436
Osteopetrosis	PMID:10888887
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 26361204

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
26361204	Male infertility, Embryo quality			181 (127 men undergoing IVF treatment, 54 normozoospermic, fertile men)	Male infertility	Microarray