ADAMTS13 A250V [extracellular region]

Stable Identifier
R-HSA-9824393
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
extracellular region
Synonyms
A disintegrin and metalloproteinase with thrombospondin motifs 13, ATS13_HUMAN
Icon
ADAMTS13 A250V [extracellular region] icon
ADAMTS13 A250V [extracellular region] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
15126318 Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura

Uchida, T, Wada, H, Mizutani, M, Iwashita, M, Ishihara, H, Shibano, T, Suzuki, M, Matsubara, Y, Soejima, K, Matsumoto, M, Fujimura, Y, Ikeda, Y, Murata, M, Research Project on Genetics of Thrombosis, -

Blood 2004
External Reference Information
External Reference
UniProt:Q76LX8 ADAMTS13
Gene Names
ADAMTS13, C9orf8, UNQ6102/PRO20085
Chain
signal peptide:1-29, propeptide:30-74, chain:75-1427
Reference Genes
BioGPS Gene:11093 ADAMTS13
COSMIC (genes):ADAMTS13 ADAMTS13
CTD Gene:11093 ADAMTS13
dbSNP Gene:11093 ADAMTS13
ENSEMBL:ENSG00000160323 ADAMTS13
HGNC:1366 ADAMTS13
KEGG:hsa:11093 ADAMTS13
Monarch:11093 ADAMTS13
NCBI Entrez Gene:11093 ADAMTS13
OMIM:604134 ADAMTS13
UCSC:Q76LX8 ADAMTS13
Reference Transcript
Other Identifiers
11093
11728139_a_at
11755244_a_at
17090786
220208_PM_at
220208_at
223844_PM_at
223844_at
3192955
3192956
3192957
3192958
3192959
3192960
3192961
3192964
3192965
3192966
3192967
3192968
3192969
3192970
3192971
3192972
3192973
3192974
3192975
3192976
3192977
3192978
3192980
3192981
3192982
3192983
3192984
3192985
3192986
3192987
3192988
3192989
3192990
3192991
3192993
3192994
3192995
3192996
3192997
3192998
3192999
3193000
3193001
3193002
3193004
3193006
3193007
3193008
3193017
3193019
3193020
3193021
4050867
4050868
4050869
4050870
4050873
4050874
4050875
4050878
4050879
4050880
4050881
4050882
4050883
4050884
4050885
4050886
4050887
4050889
4050890
4050891
4050893
4050894
4050895
4050896
4050898
4050899
4050900
4050901
4050902
4050903
4050905
4050906
4050907
4050908
4050909
4050910
4050911
4050912
4050913
4050914
4050916
4050918
4050919
4050920
4050922
4050923
4050924
4051002
4052016
4052096
4052097
4052098
4052099
74641_at
8159036
83126_at
A_23_P393645
A_24_P172304
A_24_P923832
A_33_P3342780
GE87154
GO:0004175
GO:0004222
GO:0005178
GO:0005509
GO:0005515
GO:0005576
GO:0005615
GO:0005788
GO:0006508
GO:0007155
GO:0007160
GO:0007229
GO:0007596
GO:0007599
GO:0008233
GO:0008237
GO:0008270
GO:0009100
GO:0009636
GO:0009986
GO:0014075
GO:0016485
GO:0016787
GO:0030163
GO:0030168
GO:0030198
GO:0030312
GO:0031012
GO:0034341
GO:0034612
GO:0035864
GO:0043171
GO:0046872
GO:0070670
GO:0071222
GO:0071346
GO:0071353
GO:0071356
GO:1901135
HMNXSV003047851
ILMN_1787386
ILMN_2286570
ILMN_2413732
PH_hs_0007794
TC09000775.hg
TC09002318.hg
g12053128_3p_at
g8922117_3p_at
Participates
as a candidate of
Other forms of this molecule
glc-fuc-ADAMTS13 [extracellular region]
ADAMTS13 Q449* [extracellular region]
ADAMTS13 P475S [extracellular region]
O-fuc-ADAMTS13 [endoplasmic reticulum lumen]
glc-fuc-ADAMTS13 [endoplasmic reticulum lumen]
ADAMTS13 [endoplasmic reticulum lumen]
Modified Residues
Name
L-alanine 250 replaced with L-valine
Coordinate
250
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
Disease
Name Identifier Synonyms
blood platelet disease DOID:2218 platelet disorder, Thrombocytopathy
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
ENSEMBL
Mondo
ZINC - Substances
ZINC target
PRO
GlyGen
PDB
IntEnz
HPA
GeneCards
Pharos - Targets
Orphanet
HMDB Protein
Interactors (1)
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