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

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.75
    Marker Score: 153,659
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 2.46
    Marker Score: 2,964
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 2.45
    Marker Score: 14,902
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 2.42
    Marker Score: 4,723
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.92
    Marker Score: 5,313
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.83
    Marker Score: 1,226
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 1.77
    Marker Score: 4,416
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 1.71
    Marker Score: 1,954
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.7
    Marker Score: 847
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.66
    Marker Score: 42,468
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 1.63
    Marker Score: 678
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.56
    Marker Score: 18,095
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 1.55
    Marker Score: 3,746
  • Cell Name: CD56-positive, CD161-positive immature natural killer cell, human (CL0002338)
    Fold Change: 1.46
    Marker Score: 480
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.45
    Marker Score: 714
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.42
    Marker Score: 2,996
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.36
    Marker Score: 1,365
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.33
    Marker Score: 1,954
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 1.22
    Marker Score: 998
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 1.19
    Marker Score: 1,217
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.12
    Marker Score: 7,183
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 1.11
    Marker Score: 3,494
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 1.08
    Marker Score: 2,804
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.05
    Marker Score: 3,123
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.04
    Marker Score: 2,361
  • Cell Name: naive regulatory T cell (CL0002677)
    Fold Change: 1
    Marker Score: 305
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,654
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47,881
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 0.99
    Marker Score: 1,463
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.99
    Marker Score: 720
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 0.99
    Marker Score: 2,881
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,386
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 0.98
    Marker Score: 920
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 0.98
    Marker Score: 588
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.97
    Marker Score: 4,046
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.97
    Marker Score: 452
  • Cell Name: ILC1, human (CL0001077)
    Fold Change: 0.96
    Marker Score: 244
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 0.96
    Marker Score: 560
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.95
    Marker Score: 7,097
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.94
    Marker Score: 8,292
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.94
    Marker Score: 408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,390
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.94
    Marker Score: 331
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.93
    Marker Score: 968
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.92
    Marker Score: 319
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 474
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.92
    Marker Score: 626
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.91
    Marker Score: 430
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.9
    Marker Score: 601
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2,688
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.89
    Marker Score: 309
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.89
    Marker Score: 3,075
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.89
    Marker Score: 490
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.89
    Marker Score: 1,181
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 0.88
    Marker Score: 2,466
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5,010
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.88
    Marker Score: 4,206
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.87
    Marker Score: 743
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 0.87
    Marker Score: 8,602
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.86
    Marker Score: 220
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 0.86
    Marker Score: 758
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.86
    Marker Score: 45,453
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.86
    Marker Score: 5,206
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.86
    Marker Score: 861
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.85
    Marker Score: 2,669
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.85
    Marker Score: 244
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 0.84
    Marker Score: 292
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 0.83
    Marker Score: 3,580
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.83
    Marker Score: 188
  • Cell Name: group 3 innate lymphoid cell (CL0001071)
    Fold Change: 0.83
    Marker Score: 350
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.83
    Marker Score: 13,002
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.82
    Marker Score: 391
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 0.82
    Marker Score: 1,181
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.82
    Marker Score: 5,203
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.81
    Marker Score: 2,001
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.81
    Marker Score: 261
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.8
    Marker Score: 936
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 0.8
    Marker Score: 460
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.8
    Marker Score: 173
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 318
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.79
    Marker Score: 8,030
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.79
    Marker Score: 208
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: 0.79
    Marker Score: 738
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.79
    Marker Score: 877
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 602
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.79
    Marker Score: 339
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 0.78
    Marker Score: 1,913
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.78
    Marker Score: 174
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.78
    Marker Score: 1,073
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,262
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: 0.78
    Marker Score: 193
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.78
    Marker Score: 152
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.77
    Marker Score: 454
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.77
    Marker Score: 534
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 0.77
    Marker Score: 564
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 0.76
    Marker Score: 634
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.76
    Marker Score: 679
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.76
    Marker Score: 3,279
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 0.76
    Marker Score: 575

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** TCIRG1 is a subunit of the V-ATPase complex, specifically the V0 domain, which is responsible for proton pumping across the cell membrane. This gene is encoded by the VPP3_HUMAN protein, which is a 116 kDa subunit of the V-ATPase complex. The V-ATPase complex is a multi-subunit enzyme that catalyzes the hydrolysis of ATP to generate a proton gradient, which is essential for various cellular processes, including acidification of lysosomes, regulation of ion channels, and control of cellular pH. **Pathways and Functions** TCIRG1 is involved in various cellular pathways, including: 1. **Autophagy**: TCIRG1 plays a role in the regulation of autophagy, a cellular process that involves the degradation and recycling of cellular components. 2. **Immune system**: TCIRG1 is expressed in immune cells, including macrophages and dendritic cells, and is involved in the regulation of immune responses, including the production of cytokines and the activation of T cells. 3. **Bone metabolism**: TCIRG1 is expressed in osteoclasts and is involved in the regulation of bone resorption, a process that involves the breakdown and release of minerals from bone tissue. 4. **Cellular defense response**: TCIRG1 is involved in the regulation of cellular defense responses, including the production of reactive oxygen species (ROS) and the activation of immune cells. 5. **Protein localization**: TCIRG1 is involved in the regulation of protein localization to organelles, including the lysosome and the endoplasmic reticulum. **Clinical Significance** Dysregulation of TCIRG1 has been implicated in various diseases, including: 1. **Autoimmune diseases**: TCIRG1 has been implicated in the pathogenesis of autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis. 2. **Bone disorders**: TCIRG1 has been implicated in the regulation of bone metabolism, and dysregulation of TCIRG1 has been associated with bone disorders, such as osteoporosis and osteopetrosis. 3. **Cancer**: TCIRG1 has been implicated in the regulation of cellular processes, including cell proliferation and apoptosis, and dysregulation of TCIRG1 has been associated with cancer. 4. **Neurological disorders**: TCIRG1 has been implicated in the regulation of cellular processes, including synaptic transmission and neuroinflammation, and dysregulation of TCIRG1 has been associated with neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, TCIRG1 is a critical component of the V-ATPase complex, and its dysregulation has been implicated in various diseases. Further research is needed to fully understand the role of TCIRG1 in maintaining cellular homeostasis and regulating immune responses, bone metabolism, and other cellular processes.

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:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EMBL 6 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 53 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 6 RefSeq 4 SAM 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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

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.