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NAGLU R297*

Stable Identifier
R-HSA-2219553
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Alpha-N-acetylglucosaminidase, ANAG_HUMAN, NAGLU 77kDa form, p.Arg297Ter NAGLU mutant
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
NAGLU, UFHSD1
Chain
signal peptide:1-23, chain:24-743, chain:59-743
Reference Transcript
Other Identifiers
0002370286
00531+3.2.1.50
11717852_at
16834327
204360_s_at
38815
41596_s_at
4669
4XWH
8007250
A0A140VJE4
A_23_P26945
CCDS11427
ENSG00000108784
ENSP00000225927
ENST00000225927
EntrezGene:4669
g4505326_3p_a_at
GE59169
GO:0004561
GO:0005764
GO:0006027
GO:0007040
GO:0007399
GO:0008152
GO:0016787
GO:0016798
GO:0021680
GO:0042474
GO:0043202
GO:0045475
GO:0046548
GO:0060119
GO:0070062
HGNC:7632
HPA038815
Hs.50727
ILMN_1694980
MIM:252920
MIM:609701
MIM:616491
NAGLU
NAGLU-201
NM_000263
NP_000254
PF05089
PF12971
PF12972
PH_hs_0003494
TC17000526.hg
U40846_s_at
uc002hzv.4
UPI000013C885
XM_006721920
XM_011524840
XM_017024686
XM_017024687
XP_006721983
XP_011523142
XP_016880175
XP_016880176
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 297 replaced with unknown
Coordinate
297
PsiMod HEY
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
Brenda
GeneCards
DOCK Blaster
PRO
Orphanet
PDB
HMDB Protein