SGSH R245H [lysosomal lumen]

Stable Identifier
R-HSA-2214347
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
N-sulphoglucosamine sulphohydrolase, SPHM_HUMAN, p.Arg245His SGSH
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SGSH, HSS
Chain
signal peptide:1-20, chain:21-502
Reference Transcript
Other Identifiers
0001740309
11721100_a_at
11721101_x_at
11721102_a_at
16849681
204293_at
23436
23451
35626_at
3773358
3773359
3773360
3773361
3773362
3773363
3773364
3773368
3773369
3773372
3773374
3773375
3773378
3773379
3773380
4MHX
4MIV
6448
8019061
AAA86530
AAB17952
AAH47318
AK291257
BAF83946
BC047318
CCDS11770
ENSG00000181523
ENSP00000314606
ENST00000326317
ENST00000326317.10
EntrezGene:6448
EntrezGene:SGSH
g4506918_3p_s_at
GE59070
GO:0003674
GO:0003824
GO:0005539
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005764
GO:0005773
GO:0006027
GO:0008150
GO:0008449
GO:0008484
GO:0009056
GO:0016250
GO:0016787
GO:0030200
GO:0043167
GO:0043202
GO:0043226
GO:0046872
GO:0070062
HGNC:10818
HPA023436
HPA023451
I3L0M2
I3L207
I3L2L4
I3L3T3
I3L4B7
I3L4C9
ILMN_1782347
ILMN_2133675
IPR000917
IPR017850
IPR024607
IPR032506
MIM:252900
MIM:605270
NM_000199
NM_001352921
NM_001352922
NP_000190
NP_001339850
NP_001339851
PF00884
PF16347
PH_hs_0002653
SGSH
SGSH-201
TC17001934.hg
U30894
U30894_at
U60107
U60108
U60109
U60110
U60111
UPI000000DBD0
XM_005257583
XM_011525126
XM_017024952
XP_005257640
XP_011523428
XP_016880441
XR_001752585
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 245 replaced with L-histidine
Coordinate
245
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-histidine.
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
GeneCards
PRO
Orphanet
HMDB Protein
PDB