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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
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of carbohydrate metabolism (Homo sapiens)
Mucopolysaccharidoses (Homo sapiens)
MPS IIIB - Sanfilippo syndrome B (Homo sapiens)
Defective NAGLU does not hydrolyse Heparan sulfate chain(4) (Homo sapiens)
NAGLU mutants [lysosomal lumen] (Homo sapiens)
NAGLU R674C [lysosomal lumen] (Homo sapiens)
Defective NAGLU does not hydrolyse heparan chain(2) (Homo sapiens)
NAGLU mutants [lysosomal lumen] (Homo sapiens)
NAGLU R674C [lysosomal lumen] (Homo sapiens)
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:ENSG00000108784.10 NAGLU
HGNC:7632 NAGLU
KEGG Gene (Homo sapiens):4669 NAGLU
Monarch:4669 NAGLU
NCBI Gene:4669 NAGLU
OMIM:609701 NAGLU
UCSC:P54802 NAGLU
Reference Transcript
RefSeq:NM_000263.3 NAGLU
Other Identifiers
0002370286
11717852_at
16834327
204360_PM_s_at
204360_s_at
215880_PM_at
215880_at
3721797
3721798
3721799
3721800
3721804
3721806
3721807
3721809
3721812
3721813
3721814
41596_s_at
4669
8007250
A_23_P26945
GE59169
GO:0004561
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005764
GO:0005773
GO:0006027
GO:0007040
GO:0007399
GO:0008152
GO:0016787
GO:0016798
GO:0021680
GO:0030154
GO:0030163
GO:0030200
GO:0042474
GO:0043202
GO:0043226
GO:0045475
GO:0046548
GO:0048856
GO:0060119
GO:0070062
GO:1901135
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
NAGLU mutants [lysosomal lumen] (Homo sapiens)
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
RefSeq
NP_000254.2
OpenTargets
ENSG00000108784
IntEnz
3.2.1.50
GeneCards
P54802
HPA
ENSG00000108784-NAGLU
Ensembl
ENSP00000225927
,
ENST00000225927
,
ENSG00000108784
PRO
P54802
Pharos - Targets
P54802
Orphanet
16514
PDB
4XWH
HMDB Protein
HMDBP01596
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