NAGLU R674C [lysosomal lumen]

Stable Identifier
R-HSA-2219558
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
Alpha-N-acetylglucosaminidase, ANAG_HUMAN, NAGLU 77kDa form, p.Arg674Cys NAGLU mutant
Icon
NAGLU R674C [lysosomal lumen] icon
NAGLU R674C [lysosomal lumen] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P54802 NAGLU
Gene Names
NAGLU, UFHSD1
Chain
signal peptide:1-23, chain:24-743, chain:59-743
Reference Genes
BioGPS Gene:4669 NAGLU
COSMIC (genes):NAGLU NAGLU
CTD Gene:4669 NAGLU
dbSNP Gene:4669 NAGLU
ENSEMBL:ENSG00000108784 NAGLU
HGNC:7632 NAGLU
KEGG:hsa:4669 NAGLU
Monarch:4669 NAGLU
NCBI Gene:4669 NAGLU
OMIM:609701 NAGLU
UCSC:P54802 NAGLU
Reference Transcript
Other Identifiers
11717852_at
16834327
204360_PM_s_at
204360_s_at
215880_PM_at
215880_at
3721797
3721798
3721799
3721800
3721801
3721802
3721803
3721804
3721806
3721807
3721808
3721809
3721810
3721812
3721813
3721814
41596_s_at
4669
8007250
A_14_P139186
A_23_P26945
GE59169
GO:0001573
GO:0001774
GO:0001889
GO:0001944
GO:0002376
GO:0003158
GO:0003170
GO:0003183
GO:0003220
GO:0003824
GO:0004561
GO:0005764
GO:0005773
GO:0006029
GO:0006629
GO:0006790
GO:0006801
GO:0006914
GO:0006954
GO:0007028
GO:0007030
GO:0007033
GO:0007040
GO:0007399
GO:0007507
GO:0007626
GO:0008340
GO:0009100
GO:0009611
GO:0010467
GO:0014004
GO:0016485
GO:0016787
GO:0016798
GO:0021675
GO:0021680
GO:0022008
GO:0030154
GO:0030163
GO:0030200
GO:0030201
GO:0030202
GO:0030203
GO:0030534
GO:0031069
GO:0032496
GO:0032963
GO:0034142
GO:0034285
GO:0034599
GO:0035633
GO:0035640
GO:0035904
GO:0035909
GO:0042445
GO:0042474
GO:0042982
GO:0043161
GO:0043202
GO:0043226
GO:0044242
GO:0045475
GO:0046548
GO:0048143
GO:0048708
GO:0048856
GO:0051604
GO:0055013
GO:0060041
GO:0060119
GO:0060173
GO:0060586
GO:0061744
GO:0070062
GO:0071407
GO:0097577
GO:0097696
GO:0099022
GO:0150076
GO:1901135
GO:1904389
GO:1904390
HMNXSV003056474
Hs.50727.1.S1_3p_at
ILMN_1694980
PH_hs_0003494
TC17000526.hg
U40846_s_at
g4505326_3p_a_at
Participates
as a member of
Other forms of this molecule
NAGLU R674H [lysosomal lumen]
NAGLU R626* [lysosomal lumen]
NAGLU R297* [lysosomal lumen]
NAGLU(59-743) [lysosomal lumen]
Modified Residues
Name
L-arginine 674 replaced with L-cysteine
Coordinate
674
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name Identifier Synonyms
mucopolysaccharidosis III DOID:12801 Sanfilippo's syndrome, SANFILIPPO SYNDROME B, N-sulphoglucosamine sulphohydrolase deficiency, Sanfilippo's syndrome, mucopolysaccharidosis type IIIB, NAGLU DEFICIENCY, mucopolysaccharidosis type IIIA, Mucopolysaccharidosis, MPS-III, Mucopolysaccharidosis, MPS-III-B (disorder), mucopolysaccharidosis III, SANFILIPPO SYNDROME A, N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY, HEPARAN SULFATE SULFATASE DEFICIENCY, mucopolysaccharidosis type III
Cross References
ENSEMBL
OpenTargets
IntEnz
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
HMDB Protein
PDB
Interactors (3)
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