SLC22A18, BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5, Solute carrier family 22 member 18, Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein, Efflux transporter-like protein, Imprinted multi-membrane-spa
This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Several alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2015],caution:It is uncertain whether Met-1 or Met-17 is the initiator.,disease:Defects in SLC22A18 are associated with breast cancer [MIM:114480].,disease:Defects in SLC22A18 are associated with lung cancer [MIM:211980].,disease:Defects in SLC22A18 are the cause of rhabdomyosarcoma type 1 (RMS1) [MIM:268210]. Rhabdomyosarcoma is a malignant tumor (sarcoma) derived from striated muscle.,function:May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney.,similarity:Belongs to the major facilitator superfamily. Organic cation transporter family.,subcellular location:Localized at the apical membrane surface of renal proximal tubules.,subunit:Interacts with RNF167.,tissue specificity:Expressed at high levels in adult and fetal kidney and liver, and adult colon. Expressed in fetal renal proximal tubules (at protein level). Expressed at lower levels in heart, brain and lung.,
