SGSH N-sulfoglucosamine sulfohydrolase [Homo sapiens (human)] - Gene

Summary

Official Symbol: SGSHprovided by HGNC
Official Full Name: N-sulfoglucosamine sulfohydrolaseprovided by HGNC
Primary source: HGNC:HGNC:10818
See related: Ensembl:ENSG00000181523 MIM:605270; AllianceGenome:HGNC:10818
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HSS; SFMD; MPS3A
Summary: This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
Expression: Ubiquitous expression in spleen (RPKM 9.6), adrenal (RPKM 9.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (80200673..80220333, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (81101075..81120754, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (78183075..78194132, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sulfamidase activity in 238 random newborns was well elevated compared to the range of activities measured in dried blood spots from 8 patients previously confirmed to have mucopolysaccharidosis III-A.
Title: Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry.
CSF enzyme activity levels for either SGSH (in MPS IIIA subjects) or NAGLU (in MPS IIIB) significantly differed from normal controls. Several other behavioral or functional measures were found to be uninformative in this population, including timed functional motor tests.
Title: A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.
We have identified ocular features of a patient with Sanfilippo syndrome type IIIA harboring a novel SGHS mutation that were not previously known to occur in this disease - namely, a progressive retinopathy with distinctive features, cystic macular changes responsive to carbonic anhydrase inhibitors, and complex electroretinographic abnormalities consistent with postreceptoral dysfunction.
Title: Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.
results demonstrate that a single systemic scAAVrh74-hSGSH delivery mediated efficient restoration of SGSH activity and resulted in a near complete correction of MPS IIIA molecular pathology
Title: Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice.
The crystal structure of glycosylated sulfamidase provides insight into the diverse effects of pathogenic mutations on sulfamidase function in mucopolysaccharidosis type IIIA.
Title: Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Pre-symptomatic treatment of progressive neurodegenerative disease (mucopolysaccharidosis type IIIA) via intra-cerebrospinal fluid injection of recombinant human SGSH mediates highly significant reductions in neuropathology in a canine model.
Title: Enzyme replacement reduces neuropathology in MPS IIIA dogs.
Processing and secretion of p.Ser298Pro sulfamidase suggests that small amounts of the newly synthesized enzyme are transported to lysosomes
Title: Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
By assessing the degree of developmental regression over time a group of 7 pts with a slowly progressive course of MPSIIIA were identified. In these 7 pts and in 3 other mildly affected pts missense mutation c.892T>C (p.Ser298Pro) was found on 1 allele
Title: The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
analysis of a nonsense mutation (Y40X) and two de novo missense mutations (E300V; Q307P) in heparan N-sulphatase in a mucopolysaccharidosis IIIA patient [case report]
Title: Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mucopolysaccharidosis, MPS-III-A MedGen: C0086647 OMIM: 252900 GeneReviews: Mucopolysaccharidosis Type III	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79914 (e-PCR)
- UniSTS:88946

D11S3114 (e-PCR)
- UniSTS:152207

RH78492 (e-PCR)
- UniSTS:52134

SHGC-84063 (e-PCR)
- UniSTS:104651

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-sulfoglucosamine sulfohydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables N-sulfoglucosamine sulfohydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables N-sulfoglucosamine sulfohydrolase activity	TAS Traceable Author Statement more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfuric ester hydrolase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in glycosaminoglycan catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycosaminoglycan catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in heparan sulfate proteoglycan catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in heparan sulfate proteoglycan catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heparan sulfate proteoglycan catabolic process	TAS Traceable Author Statement more info
involved_in motor behavior	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in lysosomal lumen	TAS Traceable Author Statement more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: N-sulphoglucosamine sulphohydrolase

Names: heparan sulfate sulfatase; mucopolysaccharidosis type IIIA; sulfoglucosamine sulfamidase; sulphamidase

NP_000190.1

EC 3.10.1.1

NP_001339850.1

EC 3.10.1.1

NP_001339851.1

EC 3.10.1.1

XP_011523428.1

EC 3.10.1.1

XP_054172894.1

EC 3.10.1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008229.2 RefSeqGene

Range

5000..16057

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000199.5 → NP_000190.1 N-sulphoglucosamine sulphohydrolase isoform 1 precursor

See identical proteins and their annotated locations for NP_000190.1

Status: REVIEWED

Source sequence(s)

BP198470, BU685248, DC319407, U30894

Consensus CDS

CCDS11770.1

UniProtKB/Swiss-Prot

A8K5E2, P51688

UniProtKB/TrEMBL

Q53GP1

Related

ENSP00000314606.6, ENST00000326317.11

Conserved Domains (1) summary

cd16027
Location:24 → 472

SGSH; N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase)
NM_001352921.3 → NP_001339850.1 N-sulphoglucosamine sulphohydrolase isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC087741, AC123764, BP198470

Conserved Domains (1) summary

cd16027
Location:24 → 316

SGSH; N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase)
NM_001352922.2 → NP_001339851.1 N-sulphoglucosamine sulphohydrolase isoform 3 precursor

Status: REVIEWED

Source sequence(s)

AC087741, AC123764, BP198470

Conserved Domains (1) summary

cd16027
Location:24 → 316

SGSH; N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase)

RNA

NR_148201.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC087741, AC123764, AK095969, BP198470

Related

ENST00000573150.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

80200673..80220333 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011525126.2 → XP_011523428.1 N-sulphoglucosamine sulphohydrolase isoform X1

Conserved Domains (2) summary

COG3119
Location:20 → 316

AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]

cd16027
Location:24 → 316

SGSH; N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase)