| UniProt Protein Function: | SLC22A18: 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. Defects in SLC22A18 are associated with lung cancer (LNCR). LNCR is a common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. Defects in SLC22A18 are a cause of rhabdomyosarcoma type 1 (RMS1). It is a form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchimal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.Protein type: Membrane protein, multi-pass; Transporter; Transporter, SLC family; Membrane protein, integralChromosomal Location of Human Ortholog: 11p15.5Cellular Component: membrane; cytoplasm; apical plasma membrane; plasma membrane; integral to membrane; nuclear envelopeMolecular Function: symporter activity; ubiquitin protein ligase binding; drug transporter activityBiological Process: organic cation transport; drug transport; multidrug transport; excretion; transmembrane transportDisease: Lung Cancer; Breast Cancer; Rhabdomyosarcoma, Embryonal, 1 |
| UniProt Protein Details: | |
| NCBI Summary: | 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. Two alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Oct 2010] |
| UniProt Code: | Q96BI1 |
| NCBI GenInfo Identifier: | 166064062 |
| NCBI Gene ID: | 5002 |
| NCBI Accession: | NP_002546.3 |
| UniProt Secondary Accession: | Q96BI1,Q78KK3, Q6AY78 |
| UniProt Related Accession: | Q96BI1 |
| Molecular Weight: | 44,846 Da |
| NCBI Full Name: | solute carrier family 22 member 18 |
| NCBI Synonym Full Names: | solute carrier family 22, member 18 |
| NCBI Official Symbol: | SLC22A18 |
| NCBI Official Synonym Symbols: | HET; ITM; BWR1A; IMPT1; TSSC5; ORCTL2; BWSCR1A; SLC22A1L; p45-BWR1A |
| NCBI Protein Information: | solute carrier family 22 member 18; ORCTL-2; efflux transporter-like protein; p45 Beckwith-Wiedemann region 1A; organic cation transporter-like 2; p45-Beckwith-Wiedemann region 1 A; tumor-suppressing STF cDNA 5 protein; organic cation transporter-like pro |
| UniProt Protein Name: | Solute carrier family 22 member 18 |
| UniProt Synonym Protein Names: | Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein; Efflux transporter-like protein; Imprinted multi-membrane-spanning polyspecific transporter-related protein 1; Organic cation transporter-like protein 2; ORCTL-2; Solute carrier family 22 member 1-like; Tumor-suppressing STF cDNA 5 protein; Tumor-suppressing subchromosomal transferable fragment candidate gene 5 protein; p45-Beckwith-Wiedemann region 1 A |
| Protein Family: | |
| UniProt Gene Name: | SLC22A18 |
| UniProt Entry Name: | S22AI_HUMAN |
