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

Homo sapiens

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

Gene ID: 10312 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

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