RBCC Red Blood Cell Collection

CD151_HUMAN

Source: BGMUT ; ID: raph
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)
Gene names: CD151 , TSPAN24
Protein names and data: CD151_HUMAN , CD151 antigen , GP27; Membrane glycoprotein SFA-1; Platelet-endothelial tetraspan antigen 3; PETA-3; Tetraspanin-24; Tspan-24; CD151 Lenght: 253 a.a.
Mass: 28295 Da
fasta formatted sequence
Function: Essential for the proper assembly of the glomerular and tubular basement membranes in kidney.
Disease: ( OMIM: 179620 602243 609057 ) Nephropathy with pretibial epidermolysis bullosa and deafness (NPEBD) [MIM:609057]: A disorder characterized by the association of hereditary nephritis, epidermolysis bullosa, deafness, and beta-thalassemia minor. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular 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.

Genetic variants

CD151 defines the MER2=RAPH1 antigen of the RAPH blood group system. 92% of Caucasians are MER2-positive and 8% are apparently MER2-negative.

120 - 120 T -> M (in dbSNP:rs34215390). VAR_025098 34215390
132 - 132 K -> R (in dbSNP:rs55840993). VAR_012490 55840993
137 - 137 P -> S (in dbSNP:rs55841393). VAR_012491 55841393
178 - 178 R -> H. VAR_021153

Database cross-references

UniProt: P48509
Ensembl: ENST00000322008
Ensembl: ENST00000397420
Ensembl: ENST00000397421
Ensembl: ENST00000530726
MIM: 179620
MIM: 602243
MIM: 609057
neXtProt: NX_P48509
Antibodypedia: P48509 (may not find the protein thus also not any antibody)
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