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SGSH C1091del [lysosomal lumen]
Stable Identifier
R-HSA-2214344
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
N-sulphoglucosamine sulphohydrolase, SPHM_HUMAN, p.Cys1091del SGSH
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of carbohydrate metabolism (Homo sapiens)
Mucopolysaccharidoses (Homo sapiens)
MPS IIIA - Sanfilippo syndrome A (Homo sapiens)
Defective SGSH does not hydrolyse Heparan sulfate chain(2) (Homo sapiens)
SGSH mutants [lysosomal lumen] (Homo sapiens)
SGSH C1091del [lysosomal lumen] (Homo sapiens)
Defective SGSH does not hydrolyse Heparan sulfate chain(7) (Homo sapiens)
SGSH mutants [lysosomal lumen] (Homo sapiens)
SGSH C1091del [lysosomal lumen] (Homo sapiens)
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
RefSeq:NM_000199.3 SGSH
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
SGSH mutants [lysosomal lumen] (Homo sapiens)
Other forms of this molecule
SGSH R245H [lysosomal lumen]
SGSH S66W [lysosomal lumen]
SGSH R74C [lysosomal lumen]
SGSH [lysosomal lumen]
Modified Residues
Name
Deletion of residues 1091 to 1091
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
NP_000190.1
OpenTargets
ENSG00000181523
IntEnz
3.10.1.1
GeneCards
P51688
HPA
ENSG00000181523-SGSH
Ensembl
ENSG00000181523
,
ENST00000326317
,
ENSP00000314606
PRO
P51688
Pharos - Targets
P51688
Orphanet
15285
HMDB Protein
HMDBP01587
PDB
4MHX
,
4MIV
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q8NBK3 SUMF1
1
SUMF1 [endoplasmic reticulum lumen]
(R-HSA-1614316)
0.499
2
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