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TCIRG1 Membrane Protein Introduction

Introduction of TCIRG1

V-type proton ATPase 116 kDa subunit a isoform 3 encoded by TCIRG1 gene is a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). TCIRG1 is located at 11q13, consists of 20 exons, and through alternate splicing gives rise to two main isoforms: TCIRG1-isoa and TCIRG1-isob. TCIRG1-isoa is a full length isoform and encodes a3 subunit of vacuolar H+-ATPase. TCIRG1-isob is a shorter isoform, lacking the first 5 exons of the longer isoform. TCIRG1 isoa is highly expressed in osteoclasts and is essential for bone resorption.

Basic Information of TCIRG1
Protein Name V-type proton ATPase 116 kDa subunit an isoform 3
Gene Name TCIRG1
Aliases a3, Stv1, Vph1, Atp6i, OC116, OPTB1, TIRC7, ATP6N1C, ATP6V0A3, OC-116kDa
Organism Homo sapiens (Human)
UniProt ID Q13488
Transmembrane Times 8
Length (aa) 830
Sequence MGSMFRSEEVALVQLFLPTAAAYTCVSRLGELGLVEFRDLNASVSAFQRRFVVDVRRCEELEKTFTFLQEEVRRAGLVLPPPKGRLPAPPPRDLLRIQEETERLAQELRDVRGNQQALRAQLHQLQLHAAVLRQGHEPQLAAAHTDGASERTPLLQAPGGPHQDLRVNFVAGAVEPHKAPALERLLWRACRGFLIASFRELEQPLEHPVTGEPATWMTFLISYWGEQIGQKIRKITDCFHCHVFPFLQQEEARLGALQQLQQQSQELQEVLGETERFLSQVLGRVLQLLPPGQVQVHKMKAVYLALNQCSVSTTHKCLIAEAWCSVRDLPALQEALRDSSMEEGVSAVAHRIPCRDMPPTLIRTNRFTASFQGIVDAYGVGRYQEVNPAPYTIITFPFLFAVMFGDVGHGLLMFLFALAMVLAENRPAVKAAQNEIWQTFFRGRYLLLLMGLFSIYTGFIYNECFSRATSIFPSGWSVAAMANQSGWSDAFLAQHTMLTLDPNVTGVFLGPYPFGIDPIWSLAANHLSFLNSFKMKMSVILGVVHMAFGVVLGVFNHVHFGQRHRLLLETLPELTFLLGLFGYLVFLVIYKWLCVWAARAASAPSILIHFINMFLFSHSPSNRLLYPRQEVVQATLVVLALAMVPILLLGTPLHLLHRHRRRLRRRPADRQEENKAGLLDLPDASVNGWSSDEEKAGGLDDEEEAELVPSEVLMHQAIHTIEFCLGCVSNTASYLRLWALSLAHAQLSEVLWAMVMRIGLGLGREVGVAAVVLVPIFAAFAVMTVAILLVMEGLSAFLHALRLHWVEFQNKFYSGTGYKLSPFTFAATDD

Function of TCIRG1 Membrane Protein

TCIRG1 comprises the largest subunit of the osteoclastic V-ATPase. The main function of the V-ATPase in osteoclasts is to deliver protons to the ongoing acidification of the resorption lacunae during bone resorption. Located in the membrane embedded V0 domain of the V-ATPase, the TCIRG1 contains two hemi channels allowing access of protons for transport across the plasma membrane. TCIRG1 was initially identified in mice as anosteoclast-specific gene, whose targeted deletion causes osteo-clast-rich osteopetrosis. Mutations in TCIRG1 account for about 50% of the cases of infantile malignant osteopetrosis. Isoform ‘‘b’’ is a transmembrane molecule expressed on activated T cells. It represents an inhibitory receptor that plays an essential role in the regulation of the immune response.

TCIRG1 Membrane Protein IntroductionFig.1 Candidate genes for susceptibility to osteoporosis. (Ralston, 2006)

Application of TCIRG1 Membrane Protein in Literature

  1. Makaryan V., et al. TCIRG1-associated congenital neutropenia. Hum Mutat. 2014, 35(7): 824-827. PubMed ID: 24753205

    Two unrelated patients with severe congenital neutropenia, identified by authors, are heterozygous for different, rare, highly conserved, coding variants in TCIRG1.

  2. Barvencik F. TCLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals. J Bone Miner Res. 2014, 29(4): 982-991. PubMed ID: 24108692

    CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization, and there is a need to modify the current classification of osteopetrosis.

  3. Sobacchi C., et al. As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene. J Bone Miner Res. 2014, 29(7): 1640-1650. PubMed ID: 24535816

    This study shows that a low level of normal TCIRG1 protein can suppress the clinical presentation of TCIRG1-dependent autosomal recessive osteopetrosis (ARO).

  4. Yu T., et al. Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis. Mol Med Rep. 2014, 9(4): 1191-1196. PubMed ID: 24535484

    This article reports case of a patient with osteopetrosis who carries TCIRG1 and CLCN7 mutations. In addition, among the three mutations, TCIRG1 c.909C>A and CLCN7 c.1798-1G>T are novel mutations.

  5. Moscatelli I., et al Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis. Bone. 2013, 57(1): 1-9. PubMed ID: 23907031

    This investigation is to prove the resorptive function of IMO osteoclasts can be restored by lentiviral mediated gene transfer of the TCIRG1 cDNA.

TCIRG1 Preparation Options

To obtain the soluble and functional target protein, the versatile Magic™ membrane protein production platform in Creative Biolabs enables many flexible options, from which you can always find a better match for your particular project. Aided by our versatile Magic™ anti-membrane protein antibody discovery platform, we also provide customized anti-TCIRG1 antibody development services.


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Reference

  1. Ralston S H, et al. (2006). Genetic regulation of bone mass and susceptibility to osteoporosis. GENES & DEVELOPMENT. 20, 2492-2506.

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