VWF L1733P (764-2813) [extracellular region]

Stable Identifier
R-HSA-9824345
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
vWF L1733P, von Willebrand factor
VWF L1733P (764-2813) [extracellular region] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
31605304 Identification of a missense mutation (p.Leu1733Pro) in the A3 domain of von Willebrand factor in a family with type 2M von Willebrand disease

Ozaki, S, Matsumoto, M, Shibata, H, Shigekiyo, T, Sekimoto, E, Yagi, H

Int J Hematol 2020
External Reference Information
External Reference
Gene Names
VWF, F8VWF
Chain
signal peptide:1-22, chain:23-763, chain:764-2813
Reference Transcript
Other Identifiers
11724540_a_at
11724541_s_at
11747176_a_at
11751779_a_at
11752216_a_at
16760257
17123028
17123030
17123032
202112_PM_at
202112_at
233980_PM_s_at
233980_s_at
3441686
3441687
3441688
3441689
3441691
3441693
3441695
3441696
3441699
3441700
3441701
3441702
3441705
3441706
3441709
3441711
3441712
3441715
3441716
3441719
3441720
3441721
3441724
3441725
3441726
3441727
3441729
3441730
3441731
3441732
3441735
3441736
3441740
3441741
3441742
3441744
3441745
3441746
3441747
3441748
3441749
3441753
3441754
3441759
3441763
3441764
3441766
3441767
3441768
3441769
3441776
3441778
3441779
3441780
3441787
3441788
3441791
3441792
3441793
3441799
3441805
3441807
3441808
3441809
3951539
3951540
3951542
3951543
3951545
3951548
3951549
3951550
3951551
3951555
3951556
3951557
3951558
3951560
3951561
3951562
3951564
48871_at
607_s_at
7450
7960464
A_21_P0012280
A_23_P105562
A_32_P150382
GE59658
GO:0002020
GO:0005178
GO:0005198
GO:0005201
GO:0005515
GO:0005518
GO:0005576
GO:0005615
GO:0005783
GO:0007155
GO:0007596
GO:0007599
GO:0009611
GO:0019865
GO:0023052
GO:0030168
GO:0030312
GO:0031012
GO:0031091
GO:0031093
GO:0031410
GO:0031589
GO:0033093
GO:0042060
GO:0042802
GO:0043226
GO:0051087
GO:0062023
GO:0070062
GO:1902533
HMNXSV003045470
Hs.110802.1.A1_3p_a_at
ILMN_1752755
M10321_s_at
PH_hs_0025809
TC12001130.hg
TC22001197.hg
g9257255_3p_at
Participates
Other forms of this molecule
Modified Residues
Name
L-leucine 1733 replaced with L-proline
Coordinate
1733
PsiMod
A protein modification that effectively removes or replaces an L-leucine.
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Name Identifier Synonyms
blood platelet disease DOID:2218 platelet disorder, Thrombocytopathy
Cross References
RefSeq
OpenTargets
GeneCards
ZINC target
PRO
Pharos - Targets
Orphanet
Interactors (6)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P04275 VWF  20 0.868 21
 UniProt:Q76LX8 ADAMTS13  7 0.789 19
 UniProt:P07359 GP1BA  6 0.623 2
 UniProt:P00451 F8  20 0.623 2
 UniProt:P00451-PRO_0000002967 F8      0.544 2
 UniProt:Q96CV9 OPTN  6 0.454 2
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