Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

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

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