EXT1 R339L [Golgi membrane]

Stable Identifier
R-HSA-3730912
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Exostosin-1, EXT1_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
EXT1
Chain
chain:1-746
Reference Transcript
Other Identifiers
0005720300
00534+2.4.1.224+2.4.1.225
11755900_a_at
17080450
201995_at
2131
214985_at
222_at
230183_at
3150055
3150057
3150059
3150061
3150062
3150063
3150068
3150069
3150072
3150074
3150075
3150076
3150077
3150080
3150084
3150085
3150153
3150154
3150155
3150156
3150157
3150158
3150159
3150160
3150161
3150162
3150163
3150164
3150165
3150166
32164_at
41575_at
44394
53588_at
8152491
A_23_P43273
A_32_P226556
AAB62283
AAC51154
AAH01174
AK313129
BAG35949
BC001174
CCDS6324
CH471060
EAW91972
ENSG00000182197
ENSP00000367446
ENST00000378204
ENST00000378204.6
EntrezGene:2131
EntrezGene:EXT1
EXT1
EXT1-201
F8WF54
g4557570_3p_at
GE54636
GE80894
GE903421
GO:0000139
GO:0000902
GO:0001501
GO:0001503
GO:0003674
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005789
GO:0005794
GO:0005975
GO:0006024
GO:0006464
GO:0006486
GO:0007165
GO:0007369
GO:0007411
GO:0007420
GO:0007492
GO:0007498
GO:0008150
GO:0008375
GO:0009058
GO:0009790
GO:0015012
GO:0015014
GO:0015020
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0021772
GO:0030154
GO:0030176
GO:0033692
GO:0040011
GO:0042328
GO:0042803
GO:0043167
GO:0043226
GO:0046872
GO:0046982
GO:0048856
GO:0050508
GO:0050509
GO:0072498
HGNC:3512
HPA044394
Hs.44609.0.A1_3p_at
Hs.44690.0.S1_3p_at
ILMN_1794343
ILMN_1824480
ILMN_1868805
ILMN_2129927
IPR004263
IPR015338
IPR027670
IPR029044
IPR040911
LRG_493
LRG_493t1
MIM:133700
MIM:215300
MIM:608177
NM_000127
NP_000118
PF03016
PF09258
PH_hs_0003240
PH_hs_0010851
S79639
S79639_at
TC08001548.hg
U70539
UPI000012A3A1
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 339 replaced with L-leucine
Coordinate
339
PsiMod
A protein modification that effectively removes or replaces an L-arginine.
A protein modification that effectively converts a source amino acid residue to an L-leucine.
Disease
Name Identifier Synonyms
hereditary multiple exostoses 206 Osteochondromatosis syndrome (disorder) [Ambiguous], Multiple exostosis syndromes, Multiple congenital exostosis
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Orphanet
HMDB Protein