[Pujol N] vha-7 is not expressed in embryos and young larvae, expression starts at the L3/L4 larval stage and is seen in early oocytes and in the spermateca in L4 and adult.
vha-7 encodes an ortholog of subunit a of the membrane-bound (V0) domainof vacuolar proton-translocating ATPase (V-ATPase); VHA-7 is orthologousto human ATP6N1A (OMIM:192130), ATP6V0A2, ATP6V0A4 (OMIM:605239, mutatedin distal renal tubular acidosis), and TCIRG1 (OMIM:604592, mutated inosteopetrosis); vha-7 is expressed in hypodermis and uterus; VHA-7 isdispensable for viability, since vha-7(RNAi) animals develop to normal,healthy adults; in S. cerevisiae, different V0 a-subunits (Stv1p andVph1p) direct the assembly of V-ATPases to different membranes andorganelles, suggesting that the profusion of such subunits in C. elegans(co-orthologous VHA-5, VHA-6, VHA-7, and six UNC-32 isoforms) may have asimilar function; VHA-7 is predicted to capture protons from V-ATPasetransmembrane rotor components and export the protons across themembrane.
Predicted to enable ATPase binding activity. Predicted to be involved in vacuolar acidification. Predicted to be located in plasma membrane. Predicted to be part of vacuolar proton-transporting V-type ATPase complex. Expressed in hypodermis; spermatheca; and uterus. Human ortholog(s) of this gene implicated in several diseases, including autosomal recessive cutis laxa type IIA; autosomal recessive osteopetrosis 1; and developmental and epileptic encephalopathy 104. Is an ortholog of several human genes including ATP6V0A1 (ATPase H+ transporting V0 subunit a1); ATP6V0A2 (ATPase H+ transporting V0 subunit a2); and TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3).
Sequence From: Pujol Nathalie via ACEDB feedback page <pujol@lgpd.univ-mrs.fr>
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.