Alternative titles; symbols
HGNC Approved Gene Symbol: ATP11B
Cytogenetic location: 3q26.33 Genomic coordinates (GRCh38): 3:182,793,504-182,921,629 (from NCBI)
P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.
Nagase et al. (1999) isolated a partial cDNA encoding ATP11B, which they called KIAA0956, from a brain cDNA library. Based on homology analysis, they predicted that the KIAA0956 protein is a chromaffin granule ATPase. RT-PCR analysis detected wide expression, with highest levels in kidney, followed by ovary, corpus callosum, and testis.
RUSH proteins are SWI/SNF-related transcription factors with uteroglobin promoter-binding RING finger signatures near their C termini (see 603257). Mansharamani et al. (2001) isolated a nearly full-length rabbit cDNA encoding Rfbp, a RUSH-binding protein that shares 93% amino acid identity with KIAA0956.
Nesbit et al. (2004) reported that the ATP11B protein contains 10 transmembrane domains and the conserved DKTGTLT sequence found in P-type ATPases.
Nesbit et al. (2004) determined that the ATP11B gene contains at least 30 exons.
Nagase et al. (1999) stated that the ATP11B gene, or KIAA0956, maps to chromosome 3. By genomic sequence analysis, Halleck et al. (1999) confirmed that the ATP11B gene, or ATP1R, maps to chromosome 3.
Halleck, M. S., Lawler, J. F., Jr., Blackshaw, S., Gao, L., Nagarajan, P., Hacker, C., Pyle, S., Newman, J. T., Nakanishi, Y., Ando, H., Weinstock, D., Williamson, P., Schlegel, R. A. Differential expression of putative transbilayer amphipath transporters. Physiol. Genomics 1: 139-150, 1999. [PubMed: 11015572] [Full Text: https://doi.org/10.1152/physiolgenomics.1999.1.3.139]
Mansharamani, M., Hewetson, A., Chilton, B. S. Cloning and characterization of an atypical type IV P-type ATPase that binds to the RING motif of RUSH transcription factors. J. Biol. Chem. 276: 3641-3649, 2001. [PubMed: 11058586] [Full Text: https://doi.org/10.1074/jbc.M004231200]
Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 6: 63-70, 1999. [PubMed: 10231032] [Full Text: https://doi.org/10.1093/dnares/6.1.63]
Nesbit, M. A., Bowl, M. R., Harding, B., Schlessinger, D., Whyte, M. P., Thakker, R. V. X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase. Genomics 84: 1060-1070, 2004. [PubMed: 15533723] [Full Text: https://doi.org/10.1016/j.ygeno.2004.08.003]