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Tcirg1 Gene Detail
Summary
  • Symbol
    Tcirg1
  • Name
    T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3
  • Synonyms
    ATP6a3, Atp6i, OC-116, TIRC7, V-ATPase a3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1350931
    NCBI Gene: 27060
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:3946050-3957133 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 3.62 cM
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    287 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1350931
 protein coding gene Chr19:3946050-3957717 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024631
 protein coding gene Chr19:702943-715605 (-)
A/J MGP_AJ_G0024598
 protein coding gene Chr19:670838-682658 (-)
AKR/J MGP_AKRJ_G0024569
 protein coding gene Chr19:679189-692026 (-)
BALB/cJ MGP_BALBcJ_G0024596
 protein coding gene Chr19:680630-692831 (-)
C3H/HeJ MGP_C3HHeJ_G0024365
 protein coding gene Chr19:679854-693215 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025044
 protein coding gene Chr19:693253-717716 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022473
 protein coding gene Chr19:636065-648389 (-)
CAST/EiJ MGP_CASTEiJ_G0023837
 protein coding gene Chr19:695291-707252 (-)
CBA/J MGP_CBAJ_G0024335
 protein coding gene Chr19:768973-784040 (-)
DBA/2J MGP_DBA2J_G0024464
 protein coding gene Chr19:649203-660371 (-)
FVB/NJ MGP_FVBNJ_G0024431
 protein coding gene Chr19:657110-668169 (-)
LP/J MGP_LPJ_G0024550
 protein coding gene Chr19:697320-708432 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024461
 protein coding gene Chr19:739466-750409 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025092
 protein coding gene Chr19:683233-698214 (-)
PWK/PhJ MGP_PWKPhJ_G0023583
 protein coding gene Chr19:672748-684594 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023390
 protein coding gene Chr19:690886-702990 (-)
WSB/EiJ MGP_WSBEiJ_G0023900
 protein coding gene Chr19:676284-689198 (-)



Homology
more
  • Human Ortholog
    TCIRG1, T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TCIRG1, T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
  • Synonyms
    a3, Atp6i, ATP6N1C, ATP6V0A3, OC116, OC-116kDa, OPTB1, Stv1, TIRC7, Vph1
  • Links
    NCBI Gene ID: 10312
    neXtProt AC: NX_Q13488
    UniProt: Q13488

  • Chr Location
    11q13.2; chr11:68039025-68053762 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Tcirg1 mouse models; 1 with human TCIRG1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    72 phenotypes from 7 alleles in 8 genetic backgrounds
    2 images
    51 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for mutant alleles exhibit severe osteopetrosis with increased bone density due to failure of secondary bone resorption. Mutants lack teeth and die around 30-40 days of age.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    65
  • GO References
    24
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    887
  • Tissues
    133
  • cDNA Data
    87
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000001750 Ensembl Gene Model | MGI Sequence Detail 11084 C57BL/6J ±  kb
    transcript ENSMUST00000145791 Ensembl | MGI Sequence Detail 2729 Not Applicable  
    polypeptide ENSMUSP00000122474 Ensembl | MGI Sequence Detail 834 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      9 Sequences
    • InterPro Domains
      IPR026028 ATPase, V0 complex, subunit 116kDa, eukaryotic
      IPR002490 V-type ATPase, V0 complex, 116kDa subunit family
    Molecular
    Reagents
    less
    • All nucleic 91
      cDNA 89
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12970, MGI:97398
    References
    more
    • Summaries
      All 94
      Developmental Gene Expression 9
      Diseases 3
      Gene Ontology 24
      Phenotypes 51
    • Earliest
      J:7766 Seifert MF, et al., Morphological evidence of reduced bone resorption in the osteosclerotic (oc) mouse. Am J Anat. 1985 Feb;172(2):141-53
    • Latest
      J:347159 Nakanishi-Matsui M, et al., Role of the Cytosolic Domain of the a3 Subunit of V-ATPase in the Interaction with Rab7 and Secretory Lysosome Trafficking in Osteoclasts. Biol Pharm Bull. 2024;47(1):339-344
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    11/19/2024
    MGI 6.24     		The Jackson Laboratory