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

鸯铗痂蝈 蜞赕:

  • 秒桕铒痤蝈桎 Ib 戾灬疣 蝠铎犷鲨蝾 (疱鲥矧铕 潆 羿牝铕 纛 妈腚遽疣礓)
  • Gene: [22q112/PNUTL1] peanut-like 1 (Drosophila homolog; GTPase-like?); cell division cycle-related; [CDCREL ]