TCIRG1 | ENSG00000110719 | NCBI 10312

Details for: TCIRG1

Gene ID: 10312

Symbol: TCIRG1

Ensembl ID: ENSG00000110719

Description: T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

Associated with

Amino acids regulate mtorc1
(R-HSA-9639288)
Cellular responses to stimuli
(R-HSA-8953897)
Cellular responses to stress
(R-HSA-2262752)
Cellular response to starvation
(R-HSA-9711097)
Immune system
(R-HSA-168256)
Innate immune system
(R-HSA-168249)
Insulin receptor recycling
(R-HSA-77387)
Ion channel transport
(R-HSA-983712)
Iron uptake and transport
(R-HSA-917937)
Neutrophil degranulation
(R-HSA-6798695)
Ros and rns production in phagocytes
(R-HSA-1222556)
Signaling by insulin receptor
(R-HSA-74752)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signal transduction
(R-HSA-162582)
Transferrin endocytosis and recycling
(R-HSA-917977)
Transport of small molecules
(R-HSA-382551)
Apical plasma membrane
(GO:0016324)
Apoptotic process
(GO:0006915)
Atpase binding
(GO:0051117)
Autophagosome assembly
(GO:0000045)
B cell differentiation
(GO:0030183)
Bone resorption
(GO:0045453)
Cellular defense response
(GO:0006968)
Cellular response to cytokine stimulus
(GO:0071345)
Dentin mineralization
(GO:0097188)
Enamel mineralization
(GO:0070166)
Endosome membrane
(GO:0010008)
Establishment of cell polarity
(GO:0030010)
Establishment of vesicle localization
(GO:0051650)
Ficolin-1-rich granule membrane
(GO:0101003)
Gene expression
(GO:0010467)
Hematopoietic stem cell homeostasis
(GO:0061484)
Immunoglobulin mediated immune response
(GO:0016064)
Inflammatory response
(GO:0006954)
Intracellular calcium ion homeostasis
(GO:0006874)
Late endosome
(GO:0005770)
Lysosomal lumen acidification
(GO:0007042)
Lysosomal membrane
(GO:0005765)
Macroautophagy
(GO:0016236)
Memory t cell activation
(GO:0035709)
Nucleus
(GO:0005634)
Optic nerve development
(GO:0021554)
Ossification
(GO:0001503)
Osteoclast differentiation
(GO:0030316)
Osteoclast proliferation
(GO:0002158)
Phagocytic vesicle membrane
(GO:0030670)
Phagosome acidification
(GO:0090383)
Ph reduction
(GO:0045851)
Plasma membrane
(GO:0005886)
Positive regulation of cell population proliferation
(GO:0008284)
Protein binding
(GO:0005515)
Protein catabolic process in the vacuole
(GO:0007039)
Protein localization to organelle
(GO:0033365)
Proton-transporting atpase activity, rotational mechanism
(GO:0046961)
Proton-transporting v-type atpase complex
(GO:0033176)
Proton transmembrane transport
(GO:1902600)
Regulation of gene expression
(GO:0010468)
Regulation of insulin secretion
(GO:0050796)
Regulation of osteoblast differentiation
(GO:0045667)
Regulation of proton transport
(GO:0010155)
Response to silver ion
(GO:0010272)
Retina development in camera-type eye
(GO:0060041)
Ruffle organization
(GO:0031529)
T-helper 1 cell activation
(GO:0035711)
T cell differentiation
(GO:0030217)
T cell homeostasis
(GO:0043029)
Tooth eruption
(GO:0044691)
Vacuolar acidification
(GO:0007035)
Vacuolar proton-transporting v-type atpase, v0 domain
(GO:0000220)
Vacuolar proton-transporting v-type atpase complex
(GO:0016471)

Other Information

Proteins

V-type proton ATPase 116 kDa subunit a 3

Genular Protein ID: 1010119198

Symbol: VPP3_HUMAN

Name: V-type proton ATPase 116 kDa subunit a 3

UniProtKB Accession Codes:

Q13488 O75877 Q8WVC5

Database IDs:

Citations:

PubMed ID: 8579597

Title: Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit.

PubMed ID: 8579597

DOI: 10.1006/bbrc.1996.0145

PubMed ID: 10329006

Title: Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation.

PubMed ID: 10329006

DOI: 10.1006/geno.1999.5751

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11532986

Title: The mutational spectrum of human malignant autosomal recessive osteopetrosis.

PubMed ID: 11532986

DOI: 10.1093/hmg/10.17.1767

PubMed ID: 12552563

Title: Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis.

PubMed ID: 12552563

DOI: 10.1002/humu.10165

PubMed ID: 15300850

Title: TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.

PubMed ID: 15300850

DOI: 10.1002/humu.20076

Sequence Information:

Length: 830
Mass: 92968
Checksum: 50751B41B171D9D2
Sequence:

MGSMFRSEEV ALVQLFLPTA AAYTCVSRLG ELGLVEFRDL NASVSAFQRR FVVDVRRCEE 
LEKTFTFLQE EVRRAGLVLP PPKGRLPAPP PRDLLRIQEE TERLAQELRD VRGNQQALRA 
QLHQLQLHAA VLRQGHEPQL AAAHTDGASE RTPLLQAPGG PHQDLRVNFV AGAVEPHKAP 
ALERLLWRAC RGFLIASFRE LEQPLEHPVT GEPATWMTFL ISYWGEQIGQ KIRKITDCFH 
CHVFPFLQQE EARLGALQQL QQQSQELQEV LGETERFLSQ VLGRVLQLLP PGQVQVHKMK 
AVYLALNQCS VSTTHKCLIA EAWCSVRDLP ALQEALRDSS MEEGVSAVAH RIPCRDMPPT 
LIRTNRFTAS FQGIVDAYGV GRYQEVNPAP YTIITFPFLF AVMFGDVGHG LLMFLFALAM 
VLAENRPAVK AAQNEIWQTF FRGRYLLLLM GLFSIYTGFI YNECFSRATS IFPSGWSVAA 
MANQSGWSDA FLAQHTMLTL DPNVTGVFLG PYPFGIDPIW SLAANHLSFL NSFKMKMSVI 
LGVVHMAFGV VLGVFNHVHF GQRHRLLLET LPELTFLLGL FGYLVFLVIY KWLCVWAARA 
ASAPSILIHF INMFLFSHSP SNRLLYPRQE VVQATLVVLA LAMVPILLLG TPLHLLHRHR 
RRLRRRPADR QEENKAGLLD LPDASVNGWS SDEEKAGGLD DEEEAELVPS EVLMHQAIHT 
IEFCLGCVSN TASYLRLWAL SLAHAQLSEV LWAMVMRIGL GLGREVGVAA VVLVPIFAAF 
AVMTVAILLV MEGLSAFLHA LRLHWVEFQN KFYSGTGYKL SPFTFAATDD

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: TCIRG1

Associated with

Other Information

Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit. PubMed ID: 8579597

Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation. PubMed ID: 10329006

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

The mutational spectrum of human malignant autosomal recessive osteopetrosis. PubMed ID: 11532986

Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. PubMed ID: 12552563