Human Gene CD151 (uc001lsb.3) Description and Page Index
Description: Homo sapiens CD151 molecule (Raph blood group) (CD151), transcript variant 5, mRNA. RefSeq Summary (NM_001039490): The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr11:832,952-838,835 Size: 5,884 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr11:836,070-838,192 Size: 2,123 Coding Exon Count: 7
ID:CD151_HUMAN DESCRIPTION: RecName: Full=CD151 antigen; AltName: Full=GP27; AltName: Full=Membrane glycoprotein SFA-1; AltName: Full=Platelet-endothelial tetraspan antigen 3; Short=PETA-3; AltName: Full=Tetraspanin-24; Short=Tspan-24; AltName: CD_antigen=CD151; FUNCTION: Essential for the proper assembly of the glomerular and tubular basement membranes in kidney. SUBUNIT: Interacts with integrins alpha3beta1, alpha5beta1, alpha3beta1 and alpha6beta4, with CD9 and CD181. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed in a variety of tissues including vascular endothelium and epidermis. Expressed on erythroid cells, with a higher level of expression in erythroid precursors than on mature erythrocytes. INDUCTION: By HTLV-1. POLYMORPHISM: CD151 defines the MER2=RAPH1 antigen of the RAPH blood group system. 92% of Caucasians are MER2-positive and 8% are apparently MER2-negative. DISEASE: Defects in CD151 are the cause of nephropathy with pretibial epidermolysis bullosa and deafness (NPEBD) [MIM:609057]. NPEBD is characterized by the association of hereditary nephritis, epidermolysis bullosa, deafness, and beta-thalassemia minor. SIMILARITY: Belongs to the tetraspanin (TM4SF) family. WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=raph"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cd151/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P48509
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.