SGSH R245H

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
3773362
3773363
3773364
3773368
3773369
3773372
3773374
3773375
3773378
3773379
3773380
4MHX
4MIV
6448
8019061
CCDS11770
ENSG00000181523
ENSP00000314606
ENST00000326317
EntrezGene:6448
g4506918_3p_s_at
GE59070
GO:0003824
GO:0005764
GO:0006027
GO:0008152
GO:0008484
GO:0016250
GO:0016787
GO:0030200
GO:0043202
GO:0046872
GO:0070062
HGNC:10818
HPA023436
HPA023451
Hs.31074
ILMN_1782347
ILMN_2133675
MIM:252900
MIM:605270
NM_000199
NP_000190
PF00884
PF16347
PH_hs_0002653
SGSH
SGSH-201
TC17001934.hg
U30894_at
uc002jxz.5
UPI000000DBD0
XM_005257582
XM_005257583
XM_011525126
XM_011525127
XM_017024951
XM_017024952
XP_005257640
XP_011523428
XP_016880440
XP_016880441
XR_001752585
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 245 replaced with L-histidine
Coordinate
245
PsiMod HEY
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
Brenda
GeneCards
DOCK Blaster
PRO
Orphanet
HMDB Protein
PDB