SGSH (N-sulfoglucosamine sulfohydrolase)

2014-11-01 Affiliation

Identity

HGNC

SGSH

LOCATION

17q25.3

LOCUSID

6448

ALIAS

HSS,MPS3A,SFMD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6448
MIM: 605270
HGNC: 10818
Ensembl: ENSG00000181523

Variants:

dbSNP: 6448
ClinVar: 6448
TCGA: ENSG00000181523
COSMIC: SGSH

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000181523	ENST00000326317	P51688
ENSG00000181523	ENST00000570427	I3L2L4
ENSG00000181523	ENST00000570923	I3L0M2
ENSG00000181523	ENST00000572257	I3NI22
ENSG00000181523	ENST00000573150	I3L207
ENSG00000181523	ENST00000574505	I3L2I6
ENSG00000181523	ENST00000576707	I3L4B7
ENSG00000181523	ENST00000576856	I3L3T3
ENSG00000181523	ENST00000576941	I3L4C9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Glycosaminoglycan degradation	KEGG	ko00531
Glycosaminoglycan degradation	KEGG	hsa00531
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142
Metabolic pathways	KEGG	hsa01100
Heparan sulfate degradation	KEGG	hsa_M00078
Heparan sulfate degradation	KEGG	M00078
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glycosaminoglycan metabolism	REACTOME	R-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolism	REACTOME	R-HSA-1638091
HS-GAG degradation	REACTOME	R-HSA-2024096

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
11668611	2001	Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.	41
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	27
21550404	2011	Enzyme replacement reduces neuropathology in MPS IIIA dogs.	16
24816101	2014	Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.	10
18407553	2008	The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).	8
11793481	2002	Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.	7
27590925	2016	A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.	7
25592334	2015	Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice.	6
15146460	2004	Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.	5
21671382	2011	Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.	5

Citation

Dessen P

SGSH (N-sulfoglucosamine sulfohydrolase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73189/sgsh