V-type proton ATPase 116 kDa subunit a isoform 3

Details

Name
V-type proton ATPase 116 kDa subunit a isoform 3
Synonyms
  • ATP6N1C
  • ATP6V0A3
  • OC-116 kDa
  • OC116
  • Osteoclastic proton pump 116 kDa subunit
  • T-cell immune regulator 1
  • T-cell immune response cDNA7 protein
  • TIRC7
  • V-ATPase 116 kDa isoform a3
  • Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3
Gene Name
TCIRG1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0052439|V-type proton ATPase 116 kDa subunit a isoform 3
MGSMFRSEEVALVQLFLPTAAAYTCVSRLGELGLVEFRDLNASVSAFQRRFVVDVRRCEE
LEKTFTFLQEEVRRAGLVLPPPKGRLPAPPPRDLLRIQEETERLAQELRDVRGNQQALRA
QLHQLQLHAAVLRQGHEPQLAAAHTDGASERTPLLQAPGGPHQDLRVNFVAGAVEPHKAP
ALERLLWRACRGFLIASFRELEQPLEHPVTGEPATWMTFLISYWGEQIGQKIRKITDCFH
CHVFPFLQQEEARLGALQQLQQQSQELQEVLGETERFLSQVLGRVLQLLPPGQVQVHKMK
AVYLALNQCSVSTTHKCLIAEAWCSVRDLPALQEALRDSSMEEGVSAVAHRIPCRDMPPT
LIRTNRFTASFQGIVDAYGVGRYQEVNPAPYTIITFPFLFAVMFGDVGHGLLMFLFALAM
VLAENRPAVKAAQNEIWQTFFRGRYLLLLMGLFSIYTGFIYNECFSRATSIFPSGWSVAA
MANQSGWSDAFLAQHTMLTLDPNVTGVFLGPYPFGIDPIWSLAANHLSFLNSFKMKMSVI
LGVVHMAFGVVLGVFNHVHFGQRHRLLLETLPELTFLLGLFGYLVFLVIYKWLCVWAARA
ASAPSILIHFINMFLFSHSPSNRLLYPRQEVVQATLVVLALAMVPILLLGTPLHLLHRHR
RRLRRRPADRQEENKAGLLDLPDASVNGWSSDEEKAGGLDDEEEAELVPSEVLMHQAIHT
IEFCLGCVSNTASYLRLWALSLAHAQLSEVLWAMVMRIGLGLGREVGVAAVVLVPIFAAF
AVMTVAILLVMEGLSAFLHALRLHWVEFQNKFYSGTGYKLSPFTFAATDD
Number of residues
830
Molecular Weight
92967.205
Theoretical pI
Not Available
GO Classification
Functions
ATPase binding / proton-transporting ATPase activity, rotational mechanism / transporter activity
Processes
apoptotic process / autophagosome assembly / B cell differentiation / bone resorption / cellular calcium ion homeostasis / cellular defense response / cellular response to cytokine stimulus / dentin mineralization / enamel mineralization / establishment of cell polarity / establishment of vesicle localization / gene expression / hematopoietic stem cell homeostasis / immunoglobulin mediated immune response / immunoglobulin production / inflammatory response / insulin receptor signaling pathway / interferon-gamma secretion / ion transmembrane transport / macroautophagy / memory T cell activation / neutrophil degranulation / optic nerve development / ossification / osteoclast differentiation / osteoclast proliferation / phagosome acidification / positive regulation of cell population proliferation / protein catabolic process in the vacuole / protein localization to organelle / proton transmembrane transport / regulation of gene expression / regulation of insulin secretion / regulation of osteoblast differentiation / regulation of proton transport / response to silver ion / retina development in camera-type eye / ruffle organization / T cell differentiation / T cell homeostasis / T-helper 1 cell activation / tooth eruption / transferrin transport / vacuolar acidification
Components
apical plasma membrane / cell / endosome membrane / ficolin-1-rich granule membrane / integral component of plasma membrane / late endosome / lysosomal membrane / nucleus / phagocytic vesicle membrane / plasma membrane / vacuolar proton-transporting V-type ATPase complex / vacuolar proton-transporting V-type ATPase, V0 domain
General Function
Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell activation.
Specific Function
Atpase binding
Pfam Domain Function
Transmembrane Regions
386-404 407-423 439-468 533-552 571-591 636-655 721-745 767-807
Cellular Location
Membrane
Gene sequence
>lcl|BSEQ0052440|V-type proton ATPase 116 kDa subunit a isoform 3 (TCIRG1)
ATGGGCTCCATGTTCCGGAGCGAGGAGGTGGCCCTGGTCCAGCTCTTTCTGCCCACAGCG
GCTGCCTACACCTGCGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACCTC
AACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAG
CTGGAGAAGACCTTCACCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCC
CCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAG
ACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCC
CAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGCTG
GCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGG
CCGCACCAGGACCTGAGGGTCAACTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCT
GCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAG
CTGGAGCAGCCGCTGGAGCACCCCGTGACGGGCGAGCCAGCCACGTGGATGACCTTCCTC
ATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGCTTCCAC
TGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTG
CAACAGCAGAGCCAGGAGCTGCAGGAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAG
GTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAG
GCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCC
GAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCG
ATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACA
CTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTG
GGCCGCTACCAGGAGGTCAACCCCGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTT
GCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATG
GTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGATCTGGCAGACTTTC
TTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATC
TACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCC
ATGGCCAACCAGTCTGGCTGGAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTG
GATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTATTTGG
AGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATC
CTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGCACTTT
GGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTC
TTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCC
GCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCC
AGCAACAGGCTGCTCTACCCCCGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCC
TTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGC
CGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGAGGAAAACAAGGCCGGGTTGCTGGAC
CTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGAT
GATGAAGAGGAGGCCGAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACC
ATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTG
AGCCTGGCCCACGCCCAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTG
GGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTT
GCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCC
CTGCGGCTGCACTGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTG
AGTCCCTTCACCTTCGCTGCCACAGATGACTAG
Chromosome Location
11
Locus
11q13.2
External Identifiers
ResourceLink
UniProtKB IDQ13488
UniProtKB Entry NameVPP3_HUMAN
HGNC IDHGNC:11647
General References
  1. Li YP, Chen W, Stashenko P: Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit. Biochem Biophys Res Commun. 1996 Jan 26;218(3):813-21. doi: 10.1006/bbrc.1996.0145. [Article]
  2. Heinemann T, Bulwin GC, Randall J, Schnieders B, Sandhoff K, Volk HD, Milford E, Gullans SR, Utku N: Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation. Genomics. 1999 May 1;57(3):398-406. doi: 10.1006/geno.1999.5751. [Article]
  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  4. Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, Musio A, Matthijs G, Nonomaya S, Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J, van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A: The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet. 2001 Aug 15;10(17):1767-73. doi: 10.1093/hmg/10.17.1767. [Article]
  5. Scimeca JC, Quincey D, Parrinello H, Romatet D, Grosgeorge J, Gaudray P, Philip N, Fischer A, Carle GF: Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. Hum Mutat. 2003 Feb;21(2):151-7. doi: 10.1002/humu.10165. [Article]
  6. Susani L, Pangrazio A, Sobacchi C, Taranta A, Mortier G, Savarirayan R, Villa A, Orchard P, Vezzoni P, Albertini A, Frattini A, Pagani F: TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Hum Mutat. 2004 Sep;24(3):225-35. doi: 10.1002/humu.20076. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB01133Tiludronic acidapproved, investigational, vet_approvedunknowninhibitorDetails