ITB3_HUMAN
Source:
PM23856902
BSc_CH
Marked as 'Integral membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
ITGB3
, GP3A
Protein names and data:
ITB3_HUMAN
, Integrin beta-3
, Platelet membrane glycoprotein IIIa; GPIIIa; CD61; Flags: Precursor
Lenght: 788 a.a.
Mass: 87058 Da
fasta formatted sequence
Function:
Integrin alpha-V/beta-3 is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha-V/beta-3 recognize the sequence R-G-D in a wide array of ligands. Integrin alpha-IIb/beta-3 recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha- IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial surface. In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions.
Disease:
( OMIM:
173470
187800
273800
)
Glanzmann thrombasthenia (GT) [MIM:273800]: A common inherited disease of platelet aggregation. It is characterized by mucocutaneous bleeding of mild-to-moderate severity. GT has been classified clinically into types I and II. In type I, platelets show absence of the glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express the GPIIb-IIIa complex at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. Note=The disease is caused by mutations affecting the gene represented in this entry. Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800]: An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cell membrane; Single-pass type I membrane protein. Cell projection, lamellipodium membrane. Cell junction, focal adhesion.
Tissue specificity:
Isoform beta-3A and isoform beta-3C are widely expressed. Isoform beta-3A is specifically expressed in osteoblast cells; isoform beta-3C is specifically expressed in prostate and testis.
Genetic variants
Position 59 is associated with platelet-specific alloantigen HPA-1 (ZW or PL(A)). HPA-1A/ZW(A)/PL(A1) has Leu-59 and HPA-1B/ZW(B)/PL(A2) has Pro-59. HPA-1A is involved in fetal- maternal alloimmune thromobocytopenia (FMAIT) as well as in neonatal alloimmune thrombocytopenia (NAIT). Position 169 is associated with platelet-specific alloantigen HPA-4 (PEN or YUK). HPA-4A/PEN(A)/YUK(A) has Arg-169 and HPA-4B/PEN(B)/YUK(B) has Gln-169. HPA-4B is involved in neonatal alloimmune thrombocytopenia (NAIT or NATP). Position 433 is associated with platelet-specific alloantigen MO. MO(-) has Pro-433 and MO(+) has Ala-433. MO(+) is involved in NAIT. Position 515 is associated with platelet-specific alloantigen CA/TU. CA(-)/TU(-) has Arg-515 and CA(+)/TU(+) has Gln-515. CA(+) is involved in NAIT. Position 662 is associated with platelet-specific alloantigen SR(A). SR(A)(-) has Arg-662 and SR(A)(+) has Cys-662.
59 - 59
L -> P (in alloantigen HPA-1B; dbSNP:rs5918). VAR_003993
5918
64 - 64
C -> Y (in GT; the mutation prevents normal ITGA2B/ITGB3 complex expression on the cell surface consistent with a severe type 1 phenotype). VAR_069920
66 - 66
L -> R (in dbSNP:rs36080296). VAR_049633
36080296
119 - 119
R -> W (in GT). VAR_030473
141 - 141
Y -> C (in GT). VAR_030474
143 - 143
L -> W (in GT). VAR_010649
144 - 144
M -> R (in GT; the mutation prevented normal ITGA2B/ITGB3 complex expression on the cell surface consistent with a severe type 1 phenotype). VAR_069921
145 - 145
D -> N (in GT). VAR_030475
145 - 145
D -> Y (in GT; type B). VAR_003998
150 - 150
M -> V (in GT; may confer constitutive activity to the alpha-IIb/(mutated)beta-3 receptor). VAR_030476
166 - 166
T -> I (associated with neonatal thrombocytopenia; alloantigen Duv(a+); does not affect significantly the integrin function). VAR_030477
169 - 169
R -> Q (in alloantigen HPA-4B; dbSNP:rs5917). VAR_003994
5917
188 - 188
S -> L (in GT; type II). VAR_010651
222 - 222
L -> P (in GT; variant form). VAR_030478
240 - 240
R -> Q (in GT; type B). VAR_003999
240 - 240
R -> W (in GT; variant Strasbourg-1). VAR_004000
242 - 242
R -> Q (in GT). VAR_030479
243 - 243
D -> V (in GT). VAR_030480
247 - 247
G -> D (in GT; the mutation prevents normal ITGA2B/ITGB3 complex expression on the cell surface consistent with a severe type 1 phenotype; the mutation may interfere with correct folding of the protein). VAR_069922
279 - 279
K -> M (in GT; the mutation prevents normal ITGA2B/ITGB3 complex expression on the cell surface consistent with a severe type 1 phenotype; the mutation interupts the interaction of the ITGA2B/ITGB3 complex). VAR_069923
288 - 288
L -> P (in GT). VAR_030481
306 - 306
H -> P (in GT; dbSNP:rs13306476). VAR_004001
13306476
321 - 321
M -> L (in GT). VAR_030482
330 - 330
I -> N (in GT; not expressed on the surface and absent inside the transfected cells). VAR_030483
400 - 400
C -> Y (in GT). VAR_004002
433 - 433
P -> A (in alloantigen MO(+); in a case of neonatal alloimmune thrombocytopenia; dbSNP:rs121918448). VAR_003995
121918448
453 - 453
V -> I (in dbSNP:rs5921). VAR_014178
5921
515 - 515
R -> Q (in alloantigen CA(+)/TU(+); dbSNP:rs13306487). VAR_003996
13306487
532 - 532
C -> Y (in GT). VAR_030484
568 - 568
C -> R (in GT; type I). VAR_010671
586 - 586
C -> F (in GT). VAR_004003
586 - 586
C -> R (in GT; gain-of-function mutation; constitutively binds ligand-induced binding sites antibodies and the fibrinogen-mimetic antibody PAC-1). VAR_030485
598 - 598
G -> S (in GT). VAR_004004
601 - 601
C -> R (in GT). VAR_030486
605 - 605
G -> S (in GT; type II). VAR_010672
662 - 662
R -> C (in alloantigen SR(A); dbSNP:rs151219882). VAR_003997
151219882
749 - 749
D -> H (in BDPLT16; the mutant protein is constitutively active). VAR_069924
778 - 778
S -> P (in GT; variant Strasbourg-1). VAR_004005
Database cross-references
UniProt:
P05106
Ensembl:
ENST00000559488
MIM:
173470
MIM:
187800
MIM:
273800
neXtProt:
NX_P05106
Antibodypedia:
P05106
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.