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
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 Gene (Homo sapiens):4669 NAGLU
Monarch:4669 NAGLU
NCBI Gene:4669 NAGLU
OMIM:609701 NAGLU
UCSC:P54802 NAGLU
Reference Transcript
Other Identifiers
0002370286
11717852_at
16834327
204360_s_at
215880_at
3721797
3721798
3721799
3721800
3721804
3721806
3721807
3721809
3721812
3721813
3721814
41596_s_at
4669
8007250
A_23_P26945
GE59169
GO:0003674
GO:0004561
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005764
GO:0005773
GO:0006027
GO:0007040
GO:0007399
GO:0008150
GO:0008152
GO:0009056
GO:0009790
GO:0016787
GO:0016798
GO:0021680
GO:0030154
GO:0042474
GO:0043202
GO:0043226
GO:0045475
GO:0046548
GO:0048856
GO:0060119
GO:0070062
Hs.50727.1.S1_3p_at
ILMN_1694980
PH_hs_0003494
TC17000526.hg
U40846_s_at
g4505326_3p_a_at
Participant Of
hasMember
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-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
mucopolysaccharidosis III 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
OpenTargets
IntEnz
HPA
GeneCards
Ensembl
PRO
Orphanet
PDB
HMDB Protein
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