TCIRG1
entrez
10312
canonical
uniprot
Q13488
canonical
ensembl
ENSG00000110719
resolver
ensp
ENSP00000265686
resolver
ensp
ENSP00000434407
resolver
ensp
ENSP00000651980
resolver
ensp
ENSP00000651981
resolver
ensp
ENSP00000651983
resolver
ensp
ENSP00000651985
resolver
ensp
ENSP00000651987
resolver
ensp
ENSP00000651988
resolver
ensp
ENSP00000693025
resolver
ensp
ENSP00000693028
resolver
ensp
ENSP00000693040
resolver
ensp
ENSP00000693042
resolver
ensp
ENSP00000693043
resolver
ensp
ENSP00000693049
resolver
genesymbol
TCIRG1
resolver
genesymbol_syn
ATP6N1C
resolver
genesymbol_syn
ATP6V0A3
resolver
hgnc
HGNC:11647
resolver
uniprot
O75877
resolver
uniprot
Q8WVC5
resolver
uniprot_entry
VPP3_HUMAN
resolver
uniprot_sec
O75877
resolver
uniprot_sec
Q8WVC5
resolver
amino_acid_sequence
MGSMFRSEEVALVQLFLPTAAAYTCVSRLGELGLVEFRDLNASVSAFQRRFVVDVRRCEELEKTFTFLQEEVRRAGLVLPPPKGRLPAPPPRDLLRIQEETERLAQELRDVRGNQQALRAQLHQLQLHAAVLRQGHEPQLAAAHTDGASERTPLLQAPGGPHQDLRVNFVAGAVEPHKAPALERLLWRACRGFLIASFRELEQPLEHPVTGEPATWMTFLISYWGEQIGQKIRKITDCFHCHVFPFLQQEEARLGALQQLQQQSQELQEVLGETERFLSQVLGRVLQLLPPGQVQVHKMKAVYLALNQCSVSTTHKCLIAEAWCSVRDLPALQEALRDSSMEEGVSAVAHRIPCRDMPPTLIRTNRFTASFQGIVDAYGVGRYQEVNPAPYTIITFPFLFAVMFGDVGHGLLMFLFALAMVLAENRPAVKAAQNEIWQTFFRGRYLLLLMGLFSIYTGFIYNECFSRATSIFPSGWSVAAMANQSGWSDAFLAQHTMLTLDPNVTGVFLGPYPFGIDPIWSLAANHLSFLNSFKMKMSVILGVVHMAFGVVLGVFNHVHFGQRHRLLLETLPELTFLLGLFGYLVFLVIYKWLCVWAARAASAPSILIHFINMFLFSHSPSNRLLYPRQEVVQATLVVLALAMVPILLLGTPLHLLHRHRRRLRRRPADRQEENKAGLLDLPDASVNGWSSDEEKAGGLDDEEEAELVPSEVLMHQAIHTIEFCLGCVSNTASYLRLWALSLAHAQLSEVLWAMVMRIGLGLGREVGVAAVVLVPIFAAFAVMTVAILLVMEGLSAFLHALRLHWVEFQNKFYSGTGYKLSPFTFAATDD
uniprot
proteins
disease_involvement
DISEASE: Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. {ECO:0000269|PubMed:11532986, ECO:0000269|PubMed:12552563, ECO:0000269|PubMed:15300850}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Seems to be directly involved in T-cell activation (PubMed:10329006). {ECO:0000250|UniProtKB:Q29466, ECO:0000250|UniProtKB:Q93050, ECO:0000269|PubMed:10329006}.
uniprot
proteins
mass_dalton
92968
uniprot
proteins
protein_family
V-ATPase 116 kDa subunit family
uniprot
proteins
pubmed
10329006
uniprot
proteins
pubmed
11532986
uniprot
proteins
pubmed
12552563
uniprot
proteins
pubmed
15300850
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
8579597
uniprot
proteins
sequence_length
830
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 386..404; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 407..423; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 439..468; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 533..552; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 571..591; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 636..655; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 721..745; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 767..807; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins