Harmonizome 3.0

alveolar soft part sarcoma chromosome region, candidate 1

The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]

activator of basal transcription 1 pseudogene 1

Basal cell carcinoma, susceptibility to, 5

activator of basal transcription 1

Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008]

Basal cell carcinoma, susceptibility to, 6

Basal cell carcinoma, susceptibility to, 4

Basal cell carcinoma, susceptibility to, 1

Basal cell carcinoma, susceptibility to, 2

Basal cell carcinoma, susceptibility to, 3

idiopathic basal ganglia calcification 1

Basal ganglia calcification, idiopathic, 2

basal cell adhesion molecule (Lutheran blood group)

This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

basal body orientation factor 1

Predicted to be involved in sperm axoneme assembly. Predicted to act upstream of or within several processes, including cilium movement involved in cell motility; negative regulation of microtubule depolymerization; and protein stabilization. Predicted to be located in axoneme; ciliary basal body; and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]