SGSH S66W [lysosomal lumen]

Stable Identifier
R-HSA-2214340
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
N-sulphoglucosamine sulphohydrolase, SPHM_HUMAN, p.Ser66Trp SGSH
Icon
SGSH S66W [lysosomal lumen] icon
SGSH S66W [lysosomal lumen] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P51688 SGSH
Gene Names
SGSH, HSS
Chain
signal peptide:1-20, chain:21-502
Reference Genes
BioGPS Gene:6448 SGSH
COSMIC (genes):SGSH SGSH
CTD Gene:6448 SGSH
dbSNP Gene:6448 SGSH
ENSEMBL:ENSG00000181523 SGSH
ENSEMBL_homo_sapiens_GENE:ENSG00000181523.13 SGSH
HGNC:10818 SGSH
KEGG Gene (Homo sapiens):6448 SGSH
Monarch:6448 SGSH
NCBI Gene:6448 SGSH
OMIM:605270 SGSH
UCSC:P51688 SGSH
Reference Transcript
Other Identifiers
11721100_a_at
11721101_x_at
11721102_a_at
16849681
204293_PM_at
204293_at
35626_PM_at
35626_at
3773358
3773359
3773360
3773361
3773362
3773363
3773364
3773368
3773369
3773372
3773374
3773375
3773378
3773379
3773380
6448
8019061
GE59070
GO:0003824
GO:0005515
GO:0005576
GO:0005615
GO:0005764
GO:0005773
GO:0006027
GO:0006790
GO:0008340
GO:0008484
GO:0016250
GO:0016787
GO:0030163
GO:0030200
GO:0043202
GO:0043226
GO:0046872
GO:0061744
GO:0070062
GO:0110165
GO:1901135
HMNXSV003004665
HMNXSV003032939
ILMN_2133675
PH_hs_0002653
TC17001934.hg
U30894_at
g4506918_3p_s_at
Participates
as a member of
Other forms of this molecule
SGSH R245H [lysosomal lumen]
SGSH C1091del [lysosomal lumen]
SGSH R74C [lysosomal lumen]
SGSH [lysosomal lumen]
Modified Residues
Name
L-serine 66 replaced with L-tryptophan
Coordinate
66
PsiMod
L-tryptophan residue [MOD:00027]
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
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
OpenTargets
IntEnz
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q8NBK3 SUMF1  1 0.499 2
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