SGSH

Protein identityUniProt · HPA

UniProt accession

P51688

Gene

SGSH

Ensembl

ENSG00000181523

Chromosome

17

Canonical length

502 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Secretome location

Intracellular and membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

502 residues, UniProt reviewed canonical sequence.

>P51688|SGSH
     1  MSCPVPACCA LLLVLGLCRA RPRNALLLLA DDGGFESGAY NNSAIATPHL DALARRSLLF
    61  RNAFTSVSSC SPSRASLLTG LPQHQNGMYG LHQDVHHFNS FDKVRSLPLL LSQAGVRTGI
   121  IGKKHVGPET VYPFDFAYTE ENGSVLQVGR NITRIKLLVR KFLQTQDDRP FFLYVAFHDP
   181  HRCGHSQPQY GTFCEKFGNG ESGMGRIPDW TPQAYDPLDV LVPYFVPNTP AARADLAAQY
   241  TTVGRMDQGV GLVLQELRDA GVLNDTLVIF TSDNGIPFPS GRTNLYWPGT AEPLLVSSPE
   301  HPKRWGQVSE AYVSLLDLTP TILDWFSIPY PSYAIFGSKT IHLTGRSLLP ALEAEPLWAT
   361  VFGSQSHHEV TMSYPMRSVQ HRHFRLVHNL NFKMPFPIDQ DFYVSPTFQD LLNRTTAGQP
   421  TGWYKDLRHY YYRARWELYD RSRDPHETQN LATDPRFAQL LEMLRDQLAK WQWETHDPWV
   481  CAPDGVLEEK LSPQCQPLHN EL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SGSH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.22

Highest tissue expression

45 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SGSH.

Disease | AllUniProt

Conditions SGSH is implicated in, by any mechanism.

• Mucopolysaccharidosis 3A (MPS3A) MIM:252900

Disease | GeneticClinVar

209 pathogenic / likely-pathogenic of 1,156 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mucopolysaccharidosis, MPS-III-A
• Inborn genetic diseases
• SGSH-related disorder
• Sanfilippo syndrome
• Mucopolysaccharidosis

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.8

gnomAD pLI

0

gnomAD missense Z

-0.05

DepMap mean gene effect

0.07

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• determination of adult lifespan
• glycosaminoglycan catabolic process
• heparan sulfate proteoglycan catabolic process
• motor behavior

Molecular functions

• metal ion binding
• sulfuric ester hydrolase activity
• N-sulfoglucosamine sulfohydrolase activity

Cellular components

• extracellular exosome
• lysosomal lumen
• lysosome

Protein domainsUniProt · Pfam · InterPro

• Sulfatase, N-terminal
• Alkaline-phosphatase-like, core domain superfamily
• Sulfatase, conserved site
• Sulfatase
• N-sulphoglucosamine sulphohydrolase, C-terminal
• N-sulphoglucosamine sulphohydrolase, C-terminal

KeywordsUniProt

• Calcium
• Disulfide bond
• Glycoprotein
• Hydrolase
• Lysosome
• Metal-binding
• Mucopolysaccharidosis
• Signal

InteractionsUniProt · HPA

Protein binding partners of SGSH in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FBXO6