Gene Gene information from NCBI Gene database.
Entrez ID 10312
Gene name T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
Gene symbol TCIRG1
Synonyms (NCBI Gene)
ATP6N1CATP6V0A3Atp6iOC-116kDaOC116OPTB1Stv1TIRC7Vph1a3
Chromosome 11
Chromosome location 11q13.2
Summary This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environm
SNPs SNP information provided by dbSNP.
46
SNP ID Visualize variation Clinical significance Consequence
rs137853149 C>A Pathogenic Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs137853150 G>A,C Pathogenic-likely-pathogenic, pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs137853151 G>A,T Pathogenic Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs138527421 A>G Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs139617644 G>A Pathogenic Splice acceptor variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
78
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IEA
GO:0000220 Component Vacuolar proton-transporting V-type ATPase, V0 domain IEA
GO:0001503 Process Ossification IEA
GO:0002158 Process Osteoclast proliferation IEA
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604592 11647 ENSG00000110719
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13488
Protein name V-type proton ATPase 116 kDa subunit a 3 (V-ATPase 116 kDa subunit a 3) (Osteoclastic proton pump 116 kDa subunit) (OC-116 kDa) (OC116) (T-cell immune regulator 1) (T-cell immune response cDNA7 protein) (TIRC7) (Vacuolar proton translocating ATPase 116 kD
Protein function Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01496 V_ATPase_I 27 825 V-type ATPase 116kDa subunit family Family
Tissue specificity TISSUE SPECIFICITY: Isoform long is highly expressed in osteoclastomas. Isoform short is highly expressed in thymus.
Sequence
MGSMFRSEEVALVQLFLPTAAAYTCVSRLGELGLVEFRDLNASVSAFQRRFVVDVRRCEE
LEKTFTFLQEEVRRAGLVLPPPKGRLPAPPPRDLLRIQEETERLAQELRDVRGNQQALRA
QLHQLQLHAAVLRQGHEPQLAAAHTDGASERTPLLQAPGGPHQDLRVNFVAGAVEPHKAP
ALERLLWRACRGFLIASFRELEQPLEHPVTGEPATWMTFLISYWGEQIGQKIRKITDCFH
CHVFPFLQQEEARLGALQQLQQQSQELQEVLGETERFLSQVLGRVLQLLPPGQVQVHKMK
AVYLALNQCSVSTTHKCLIAEAWCSVRDLPALQEALRDSSMEEGVSAVAHRIPCRDMPPT
LIRTNRFTASFQGIVDAYGVGRYQEVNPAPYTIITFPFLFAVMFGDVGHGLLMFLFALAM
VLAENRPAVKAAQNEIWQTFFRGRYLLLLMGLFSIYTGFIYNECFSRATSIFPSGWSVAA
MANQSGWSDAFLAQHTMLTLDPNVTGVFLGPYPFGIDPIWSLAANHLSFLNSFKMKMSVI
LGVVHMAFGVVLGVFNHVHFGQRHRLLLETLPELTFLLGLFGYLVFLVIYKWLCVWAARA
ASAPSILIHFINMFLFSHSPSNRLLYPRQEVVQATLVVLALAMVPILLLGTPLHLLHRHR
RRLRRRPADRQEENKAGLLDLPDASVNGWSSDEEKAGGLDDEEEAELVPSEVLMHQAIHT
IEFCLGCVSNTASYLRLWALSLAHAQLSEVLWAMVMRIGLGLGREVGVAAVVLVPIFAAF
AVMTVAILLVMEGLSAFLHALRLHWVEFQNKFYSGTGYKLSPFTF
AATDD
Sequence length 830
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Lysosome
Phagosome
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Tuberculosis
Human papillomavirus infection
Rheumatoid arthritis
  ROS and RNS production in phagocytes
Neutrophil degranulation
Insulin receptor recycling
Transferrin endocytosis and recycling
Amino acids regulate mTORC1
Ion channel transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
580
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the skeletal system Likely pathogenic rs369264588 RCV001814292
Autosomal recessive osteopetrosis Likely pathogenic; Pathogenic rs751881962 RCV004017229
Autosomal recessive osteopetrosis 1 Likely pathogenic; Pathogenic rs771271907, rs2134432498, rs1214876593, rs903939170, rs2134436277, rs1431956318, rs1182235762, rs2134455254, rs1565164499, rs2134455141, rs1028394725, rs2134462513, rs780311417, rs1590807544, rs2134462969
View all (142 more)
RCV001375479
RCV002246359
RCV004570935
RCV003130516
RCV004570944
RCV003462966
RCV003462973
RCV004796623
RCV001826184
RCV001526395
RCV002246445
RCV003464396
RCV002507790
RCV003464360
RCV002307805
RCV003471137
RCV003464214
RCV003471155
RCV004571720
RCV003471241
RCV002507703
RCV005607045
RCV003471190
RCV002246627
RCV004571586
RCV003471191
RCV003471103
RCV002247757
RCV002247758
RCV002247759
RCV002247765
RCV002247771
RCV002247772
RCV002283654
RCV002284034
RCV002309881
RCV002307905
RCV002307983
RCV002308103
RCV002309043
RCV002309156
RCV002309288
RCV002310090
RCV002310107
RCV000169678
RCV005636689
RCV005254691
RCV003459742
RCV003464589
RCV003464594
RCV000005792
RCV000005793
RCV000005795
RCV000005796
RCV000005797
RCV000005798
RCV003464610
RCV003465850
RCV002789996
RCV003466063
RCV005051299
RCV003464665
RCV003464666
RCV003466431
RCV003464668
RCV003466432
RCV003464669
RCV003464670
RCV003466433
RCV003464671
RCV003466434
RCV003466435
RCV003464672
RCV003466436
RCV003466437
RCV003466438
RCV003464673
RCV003464674
RCV003464675
RCV003466439
RCV003466440
RCV003466441
RCV003464676
RCV003464677
RCV003464678
RCV003464679
RCV003464680
RCV003466442
RCV003466443
RCV003466444
RCV003464681
RCV003464682
RCV003464683
RCV003464684
RCV003464685
RCV003464686
RCV003466445
RCV004574105
RCV005051348
RCV005610632
RCV000672867
RCV000675173
RCV004576167
RCV004573697
RCV004573698
RCV004573699
RCV004573700
RCV004573701
RCV004573702
RCV004573703
RCV004573704
RCV004573705
RCV004573706
RCV004573707
RCV000410207
RCV005606669
RCV000666514
RCV000674223
RCV000672608
RCV000670922
RCV000669060
RCV000669567
RCV000669207
RCV000665747
RCV000666560
RCV000666021
RCV000666300
RCV000674460
RCV000669376
RCV000674837
RCV000670786
RCV000673226
RCV000667452
RCV000673704
RCV000672760
RCV000668642
RCV000667120
RCV000667217
RCV000674076
RCV000674525
RCV000671737
RCV000674141
RCV000670435
RCV000674126
RCV000666944
RCV000666484
RCV000665688
RCV000671340
RCV000668037
RCV000673534
RCV000670092
RCV002227570
RCV002501118
RCV000855724
RCV000991440
RCV000991441
RCV001030049
RCV003462567
RCV001784608
RCV003469339
RCV001814289
RCV003469459
RCV001375862
RCV001257141
RCV001289553
Chorea-acanthocytosis Likely pathogenic; Pathogenic rs774308815 RCV003444632
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Likely benign rs766544469 RCV005928480
Congenital neutropenia Uncertain significance rs587779413 RCV000133575
Decreased total neutrophil count Uncertain significance rs757671003, rs369803798, rs150260808 RCV005628163
RCV005628142
RCV005628143
Disorder of bone Benign; Conflicting classifications of pathogenicity; Likely benign rs35089741, rs140963213, rs36027301 RCV006268648
RCV006268684
RCV006268719
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Renal Tubular Associate 12566520
Adenocarcinoma Mucinous Associate 1928301
Adenocarcinoma of Lung Associate 25233467
Agammaglobulinemia Associate 19507210
alpha Thalassemia Associate 25834820
Alzheimer Disease Associate 30478411, 35699875
Atherosclerosis Associate 27229898
Barrett Esophagus Associate 20543560
Bisphosphonate Associated Osteonecrosis of the Jaw Associate 32119750
Bone Diseases Metabolic Associate 20424301, 24535816