NEU1 R225P [lysosomal lumen]

Stable Identifier
R-HSA-5674167
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Sialidase-1, NEUR1_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
NEU1, NANH
Chain
signal peptide:1-47, chain:48-415
Reference Transcript
Other Identifiers
0001170519
11715838_a_at
17017495
17026875
17029348
17032134
17034509
17036841
17039585
17042101
208926_at
2948757
2948758
2949469
2949470
2949472
2949473
2949474
2949476
2949477
2949478
2949480
2949481
2949482
2949483
2949484
2949485
2949487
39075_at
4758
8125139
8178676
8179851
A_24_P394533
GE54352
GO:0002376
GO:0003674
GO:0004308
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005764
GO:0005765
GO:0005773
GO:0005886
GO:0005975
GO:0006629
GO:0006687
GO:0006689
GO:0006810
GO:0008150
GO:0008152
GO:0009056
GO:0009313
GO:0016020
GO:0016021
GO:0016042
GO:0016192
GO:0016787
GO:0016798
GO:0016997
GO:0030054
GO:0031410
GO:0034641
GO:0035580
GO:0043202
GO:0043226
GO:0043231
GO:0043312
GO:0052794
GO:0052795
GO:0052796
GO:0070062
ILMN_1763144
PH_hs_0006548
TC06001548.hg
TC6_apd_hap1000089.hg
TC6_cox_hap2000175.hg
TC6_dbb_hap3000164.hg
TC6_mann_hap4000146.hg
TC6_mcf_hap5000150.hg
TC6_qbl_hap6000165.hg
TC6_ssto_hap7000144.hg
X78687_at
g4099140_3p_s_at
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 225 replaced with L-proline
Coordinate
225
PsiMod
A protein modification that effectively converts a source amino acid residue to L-proline.
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
lysosomal storage disease 3211 lysosomal storage metabolism disorder, inborn lysosomal enzyme disorder, disorder of lysosomal enzyme (disorder)
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