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FLASH GENE

Symbol

TCIRG1

contributors: mct/npt - updated : 17-09-2009

HGNC name	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3
HGNC id	11647

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	OPTB1 osteopetrosis, lethal B1
Location	11q13.2      Physical location : 67.806.482 - 67.818.365
Synonym name	ATPase, H+ transporting, 116kD
	ATPase, H+ transporting, lysosomal V0 protein A3
	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3
	T-cell immune response cDNA7 protein
	vacuolar proton translocating ATPase 116 kDa subunit a isoform 3
Synonym symbol(s)	TIRC7, OC116, OPTR, A3, OPTB1, STV1, ATP6N1C, ATP6I, ATP6N1D, ATP6V0A3

DNA

TYPE	functioning gene
STRUCTURE	11.88 kb     20 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	two promoters and start sites OC116 (exon 2) TIRC7 (exon 5)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006019 19 splicing 2700 NP_006010 - 830 osteoclasts Smirnova, Finbow (1997) also known as OC116 NM_006053 15 splicing 2480 NP_006044 75 614 widely and in T lymphocytes Finbow (1997), Smirnova (2005) also known as TCIR7

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous nerve cranial nerve     highly Respiratory lung       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte

cell lineage
cell lines	osteoclastoma tumor, and pancreatic adenocarcinoma cells
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal cytoplasmic domain
	seven transmembrane segments spanning domain
	extracellular C domain
	multiple phosphorylation sites for protein kinase C

HOMOLOGY

Homologene

FAMILY

V-ATPase 116 kDa subunit family

CATEGORY

enzyme , regulatory , transport

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	T cell membrane protein essential for T cell activation, H+, ATPase subunit
	mediating the acidification of the bone/osteoclast interface
	may be involved in other processes besides immune response and bone resorption
	acting as an upstream regulatory molecule of CTLA4 expression
	multi-subunit enzyme composed of a membrane sector and a cytosolic catalytic sector (Finbow 1991)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

text	vacuolar proton pomp

PATHWAY

metabolism

signaling

a component

component of the vacuolar proton pump

INTERACTION

DNA

RNA

small molecule

protein

ClCN7 that provides the chloride conductance requested for an efficient proton pump

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

OPTB1

related resource

TCIRG1base: Mutation registry for autosomal recessive osteopetrosis

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS