TCIRG1 - T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 Gene

Also Known as a3; Stv1; Vph1; Atp6i; OC116; OPTB1; TIRC7; ATP6N1C; ATP6V0A3; OC-116kDa

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10312

About TCIRG1

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:68,039,025-68,053,762 (from NCBI)

This gene has 22 transcripts (splice variants), 229 orthologues, 3 paralogues and is associated with 5 phenotypes. Ubiquitous expression in bone marrow (RPKM 27.5), spleen (RPKM 26.3) and 25 other tissues.

Summary

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 environment. 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. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]

TCIRG1 Products (3)

mRNA	Protein	Name
NM_001351059.2	NP_001337988.1	V-type proton ATPase 116 kDa subunit a 3 isoform c
NM_006019.4	NP_006010.2	V-type proton ATPase 116 kDa subunit a 3 isoform a
NM_006053.4	NP_006044.1	V-type proton ATPase 116 kDa subunit a 3 isoform b

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	15800125	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TCIRG1 Protein Structure

V_ATPase_I

0
200
400
600
830 a.a.

Protein Preferred Names	Protein Names
V-type proton ATPase 116 kDa subunit a 3	ATPase, H+ transporting, 116kD

Related Diseases

Diseases	Alias
Osteopetrosis, Autosomal Recessive 1	OPTB1 Autosomal Recessive Osteopetrosis 1 Autosomal Recessive Albers-Schonberg Disease Infantile Malignant Osteopetrosis Osteopetrosis, Infantile Malignant 1 Marble Bones, Autosomal Recessive Albers-Schonberg Disease, Autosomal Recessive Infantile Malignant Osteopetrosis 1 Osteopetrosis Autosomal Recessive 1 Autosomal Recessive Osteopetrosis Type 1 Marble Bones Autosomal Recessive Osteopetrosis Infantile Malignant 1 Osteopetrosis, Autosomal Recessive, Type 1
Osteopetrosis	Marble Bone Disease Albers-Schonberg Disease Osteopetroses Marble Bones Osteopetrosis And Related Disorders Congenital Osteopetrosis Marble Bone Albers-Schoenberg Disease Albers-Schonberg Osteopetrosis Osteosclerosis Fragilis Ivory Bones
Neutropenia, Severe Congenital, 1, Autosomal Dominant	SCN1 Neutropenia, Severe Congenital 1, Autosomal Dominant Neutropenia, Severe Congenital, Autosomal Dominant 1
Osteopetrosis, Autosomal Recessive 6	OPTB6 Autosomal Recessive Osteopetrosis 6 Autosomal Recessive Osteopetrosis Intermediate Form Osteopetrosis, Autosomal Recessive, Intermediate Form Osteopetrosis Autosomal Recessive 6 Autosomal Recessive Osteopetrosis Type 6 Osteopetrosis Autosomal Recessive Intermediate Form Intermediate Osteopetrosis Autosomal Recessive Intermediate Osteopetrosis Osteopetrosis, Autosomal Recessive, Type 6
Dysosteosclerosis
Severe Congenital Neutropenia	Congenital Neutropenia Neutropenia, Severe Congenital Congenital Agranulocytosis Infantile Genetic Agranulocytosis Kostmann Disease Kostmann'S Agranulocytosis Kostmann'S Syndrome Severe Infantile Genetic Neutropenia
Autosomal Recessive Malignant Osteopetrosis	Infantile Malignant Osteopetrosis
Autosomal Dominant Severe Congenital Neutropenia	Severe Congenital Neutropenia Autosomal Dominant Neutropenia, Congenital, Severe, Autosomal Dominant
Endosteal Hyperostosis, Autosomal Dominant	Osteosclerosis Worth Syndrome Osteosclerosis, Autosomal Dominant Hyperostosis, Endosteal Endosteal Hyperostosis, Worth Type Worth Disease Autosomal Dominant Endosteal Hyperostosis Autosomal Dominant Osteosclerosis, Worth Type Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus Autosomal Dominant Osteosclerosis Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus Worth'S Syndrome Worth Type Autosomal Dominant Osteosclerosis Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus Osteosclerosis, Autosomal Dominant, Worth Type WENHY Endosteal Hyperostosis Autosomal Dominant Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus Osteosclerosis Autosomal Dominant Acquired Osteosclerosis
Beach Ear	Acute Swimmer'S Ear Acute Bacterial Inflammation Of External Ear Acute Otitis Externa, Diffuse Acute Swimmers' Ear Tank Ear
Osteopetrosis, Autosomal Recessive 7	OPTB7 Autosomal Recessive Osteopetrosis 7 Autosomal Recessive Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia Autosomal Recessive Osteopetrosis Type 7 Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia Osteopetrosis-Hypogammaglobulinemia Syndrome Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia Osteopetrosis Autosomal Recessive 7 Osteopetrosis Osteoclast-Poor With Hypogammaglobulinemia Osteopetrosis, Autosomal Recessive, Type 7
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis With Renal Tubular Acidosis Marble Brain Disease OPTB3 Guibaud-Vainsel Syndrome Carbonic Anhydrase Ii Deficiency Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis Autosomal Recessive Osteopetrosis 3 Carbonic Anhydrase 2 Deficiency Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis Osteopetrosis Autosomal Recessive 3 Autosomal Recessive Osteopetrosis Type 3 Guibaud Vainsel Syndrome Mixed Rta Mixed Renal Tubular Acidosis Renal Tubular Acidosis Type 3 Carbonic Anhydrase Ii Deficiency Syndrome Carbonic Anhydrase Ii Variant Osteopetrosis, Autosomal Recessive, Type 3 Carbonic Anhydrase 2
Osteopetrosis, Autosomal Recessive 2	OPTB2 Autosomal Recessive Osteopetrosis 2 Osteopetrosis, Mild Autosomal Recessive Form Osteoclast-Poor Osteopetrosis Osteopetrosis, Osteoclast-Poor Mild Autosomal Recessive Form Osteopetrosis Osteopetrosis Autosomal Recessive 2 Autosomal Recessive Osteopetrosis Type 2 Osteopetrosis Osteoclast-Poor Osteopetrosis, Autosomal Recessive, Type 2
Osteopetrosis, Autosomal Recessive 4	Autosomal Recessive Osteopetrosis 4 OPTB4 Infantile Malignant Osteopetrosis 2 Osteopetrosis, Infantile Malignant 2 Osteopetrosis, Autosomal Recessive, Type 4
Axial Osteomalacia	Atypical Osteomalacia Involving The Axial Skeleton
Osteopetrosis, Autosomal Recessive 5	OPTB5 Autosomal Recessive Osteopetrosis 5 Infantile Malignant Osteopetrosis 3 Osteopetrosis, Infantile Malignant 3 Osteopetrosis Autosomal Recessive 5 Osteopetrosis And Infantile Neuroaxonal Dystrophy Autosomal Recessive Osteopetrosis Type 5 Osteopetrosis Infantile Malignant 3 Osteopetrosis, Autosomal Recessive, Type 5
Osteopetrosis, Autosomal Dominant 2	OPTA2 Autosomal Dominant Osteopetrosis 2 Osteopetrosis Autosomal Dominant Type 2 Osteopetrosis, Autosomal Dominant, Type Ii Albers-Schonberg Osteopetrosis Autosomal Dominant Albers-Schonberg Disease Osteopetrosis Marble Bones, Autosomal Dominant Osteosclerosis Fragilis Generalisata Albers-Schonberg Disease, Autosomal Dominant Autosomal Dominant Osteopetrosis Type Ii Albers-Schönberg Osteopetrosis Autosomal Dominant Osteopetrosis Type 2 Marble Disease Autosomal Dominant Osteopetrosis, Autosomal Dominant, Type 2
Pycnodysostosis	Pyknodysostosis PKND Pycd Toulouse-Lautrec Syndrome
Osteopetrosis, Autosomal Recessive 8	Autosomal Recessive Osteopetrosis 8 OPTB8 Osteopetrosis, Autosomal Recessive, Type 8
Distal Renal Tubular Acidosis	Classic Rta Familial Distal Primary Acidosis Renal Tubular Acidosis Type 1 Drta Renal Tubular Acidosis, Distal
Syndromic X-Linked Intellectual Disability Hedera Type	Mental Retardation, X-Linked, Syndromic, Hedera Type Mrxe Mrxsh
Fibrogenesis Imperfecta Ossium	Baker'S Disease
Renal Tubular Acidosis	Acidosis Renal Tubular Acidosis, Renal Tubular Lightwood-Albright Syndrome Lightwood Syndrome Idiopathic Infantile Hypercalcemia - Mild Form Kidney Tubular Acidosis Renal Tubule Acidosis Kidney Acidosis Renal Acidosis Renal Hyperchloremic Acidosis Rta - [Renal Tubular Acidosis]
Craniodiaphyseal Dysplasia	CDD Schaefer Stein Oshman Syndrome Craniodiaphyseal Dysplasia, Dominant Dominantly Inherited Craniodiaphyseal Dysplasia
Craniometaphyseal Dysplasia, Autosomal Dominant	Craniometaphyseal Dysplasia CMDD Cmdj Cmd Autosomal Dominant Craniometaphyseal Dysplasia Craniometaphyseal Dysplasia, Jackson Type Craniometaphyseal Dysplasia Jackson Type Autosomal Recessive Craniometaphyseal Dysplasia Cmdr Dysplasia, Craniometaphyseal, Autosomal Dominant Craniometaphyseal Dysplasia, Autosomal Recessive Type
Bone Remodeling Disease
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14315	TCIRG1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21955	Tcirg1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TCIRG1	VGNC	VGNC:47203
Bos taurus	TCIRG1	VGNC	VGNC:56298
Macaca mulatta	TCIRG1	VGNC	VGNC:78291
Felis catus	TCIRG1	VGNC	VGNC:66031
Rattus norvegicus	TCIRG1	RGD	RGD:735136
Mus musculus	TCIRG1	MGD	MGI:1350931
Others	TCIRG1	NCBI