From NCBI Gene: Rhabdomyosarcoma 1Familial cancer of breastLung cancerFrom UniProt: Rhabdomyosarcoma, embryonal, 1 (RMSE1): A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal 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. [MIM:268210] Lung cancer (LNCR): 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. [MIM:211980]

     From NCBI Gene: 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] From UniProt: 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.

The following transcription factors affect gene expression:

• FOXO1
• FOXO1a
• NF-E2
• NF-E2 p45
• FOXO4

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.

Caution:

It is uncertain whether Met-1 or Met-17 is the initiator.

Molecular Function:

• Drug Transmembrane Transporter Activity
• Symporter Activity
• Drug:Proton Antiporter Activity
• Ubiquitin Protein Ligase Binding

Biological Processes:

• Excretion
• Organic Cation Transport
• Drug Transport