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Reactome (instancebrowser)
Reactome: A Curated Pathway Database
Details
IdentifierUniProt:Q16394
DatabaseUniProt
SpeciesHomo sapiens
DescriptionrecommendedName: Exostosin-1 ecNumber2.4.1.224/ecNumber ecNumber2.4.1.225/ecNumber alternativeName: Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase alternativeName: Multiple exostoses protein 1 alternativeName: Putative tumor suppressor protein EXT1
Links to corresponding entries in other databasesBioGPS Gene:2131
Brenda:2.4.1.224
Brenda:2.4.1.225
CTD Gene:2131
EC:2.4.1.224
EC:2.4.1.225
ENSEMBL:ENSG00000182197
GeneCards:Q16394
HapMap:NM_000127
IntEnz:2.4.1.224
IntEnz:2.4.1.225
KEGG Gene:2131
NCBI Gene:2131
OMIM:133700
OMIM:150230
OMIM:215300
OMIM:608177
Orphanet:16004
PRO:Q16394
RefSeq:NM_000127
RefSeq:NP_000118
UCSC human:Q16394
UniProt:Q16394
dbSNP Gene:2131
Other identifiers related to this sequenceEXT1_HUMAN, B2R7V2, Q9BVI9, BAG35949, Hs.44609.0.A1_3p_at, 3150166, EXT1-001, ENST00000378204, 0005720300, 3150165, PH_hs_0003240, 17080450, T2FFJ4, 2131, 3150062, 3150157, 3150163, IPR015338, 3150063, PH_hs_0010851, PF03016, 201995_at, BC001174, 3150076, 3150161, 3150072, IPR029044, 3150055, 3150155, AAB62283, MIM:608177, 3150162, 41575_at, GE903421, 3150059, Hs.44609, 11755900_a_at, MIM:133700, KF158988, Hs.613910, AGT15863, NP_000118, ADI56520, ILMN_1794343, 230183_at, OTTHUMP00000066043, A_32_P226556, 3150069, ENSG00000182197, HPA044394, ILMN_1824480, KF037951, 3150061, LRG_493t1, HGNC:3512, KF597062, MIM:215300, AK313129, 3150080, 53588_at, 3150154, A_23_P43273, S79639, 3150074, U70539, 3150068, IPR004263, 3150158, ENSP00000367446, EXT1, AHB20150, AAH01174, 3150084, HM117252, S79639_at, 3150057, Hs.606813, 3150160, 3150159, D7RTA7, 3150153, EntrezGene:2131, CH471060, g4557570_3p_at, 222_at, 8152491, EAW91972, AAC51154, LRG_493, GE54636, 3150156, Hs.44690, AGV77097, 3150164, 32164_at, 3150077, GE80894, Hs.492618, S5Y321, ILMN_2129927, PF09258, V5QSK8, UPI000012A3A1, 3150075, Hs.44690.0.S1_3p_at, 214985_at, NM_000127, uc003yok.2, 3150085, CCDS6324, MIM:150230, ILMN_1868805
Molecules with this sequenceEXT1 [Golgi membrane] UKENBCdOOOOORHPGUR
EXT1 G339D [Golgi membrane] UKENBCdOOOOORHPGUR
EXT1 R339L [Golgi membrane] UKENBCdOOOOORHPGUR
EXT1 G198Afs*54 [Golgi membrane] UKENBCdOOOOORHPGUR
EXT1 R340C [Golgi membrane] UKENBCdOOOOORHPGUR
EXT1 L490Rfs*9 [Golgi membrane] UKENBCdOOOOORHPGUR
Component ofEXT1:EXT2 [Golgi membrane]
Represented by generalisation(s)EXT1 mutants [Golgi membrane]
Processes where molecules and complexes with this sequence are involved

Metabolism

Disease

Modifications in molecules with this sequenceL-arginine 340 replaced with L-cysteine
L-arginine 339 replaced with L-leucine
glycine 339 replaced with L-aspartic acid
Replacement of residues 490 to 497 by RSLSPSQC
Replacement of residues 198 to 250 by ALGLTTPRTWGLTSARRCWPKPASVLKTSDPTLMFLFPSFLRIIPGQEGRGGF
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