Gene: [22q112/GP1BB] glycoprotein Ib (platelet), beta polypeptide;
|
FUN |
[1] The GP1BB gene product participates in blood clotting. It is 1 of the
2 subunits of glycoprotein Ib, which is a major component of the platelet
membrane receptor for von Willebrand factor (GEM:12p13/F8VWF), designated
the GP Ib-IX-V complex, and contributes to the expression of a functional
receptor (Lopez-1988).
[2] The GP1BB glycoprotein can participate in transmembrane signaling through phoshorylation of its intra-cellular domain (Wardell-1989; Yagi-1994)." |
|
GEN |
The gene length: 1.3 kb; exons: 2; introns: 1 (Yagi-1994). |
|
EXP |
The 206-amino acid precursor of GP Ib-beta is synthesized from a 1.0-kb mRNA expressed by megakaryocytes." |
|
MOP |
The alpha subunit of glycoprotein Ib is encoded by GP1BA gene (GEM:17p1/GP1BA)." |
|
MAF |
The PNUTL1 and GP1BB (GEM:22q112/GP1BB) genes are encoded on the same DNA strand, overlapping with the same transcriptional orientation (McKie-1997)." |
|
REF |
PRO,EXP "Kelly MD &: J Clin Invest, 93, 2417-2424, 1994 PRO,COD,EXP,FUN "Lopez JA &: PNAS, 85, 2135-2139, 1988 COD,SEQ,MAP,LOC,EXP "McKie JM &: Hum Genet, 101, 6-12, 1997 MOP,EXP,FUN "Wardell MR &: JBC, 264, 15656-15661, 1989 GEN,SEQ,NTC,LOC "Yagi M &: JBC, 269, N26, 17424-17427, 1994 CLO,EXP "Zieger B &: J Clin Invest, 99, N3, 520-525, 1997 |
|
KEY |
hem, clot, recp, mem |
|
CLA |
coding, basic |
|
LOC |
22 q11.21-.23 |
|
MIM |
MIM: 138720 |
