InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GALNS

Summary

InnateDB Protein

IDBP-46867.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GALNS

Protein Name

galactosamine (N-acetyl)-6-sulfate sulfatase

Synonyms

GalN6S; GALNAC6S; GAS; MPS4A;

Species

Homo sapiens

Ensembl Protein

ENSP00000268695

InnateDB Gene

IDBG-46865 (GALNS)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Lysosome.

Disease Associations

Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]: A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. {ECO:0000269PubMed:1522213, ECO:0000269PubMed:16287098, ECO:0000269PubMed:7581409, ECO:0000269PubMed:7633425, ECO:0000269PubMed:7668283, ECO:0000269PubMed:7795586, ECO:0000269PubMed:8651279, ECO:0000269PubMed:8826435, ECO:0000269PubMed:9298823, ECO:0000269PubMed:9375852, ECO:0000269PubMed:9521421}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0003943	N-acetylgalactosamine-4-sulfatase activity
GO:0008484	sulfuric ester hydrolase activity
GO:0043890	N-acetylgalactosamine-6-sulfatase activity
GO:0046872	metal ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0008152	metabolic process
GO:0030203	glycosaminoglycan metabolic process
GO:0042339	keratan sulfate metabolic process
GO:0042340	keratan sulfate catabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0043202	lysosomal lumen
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000917 Sulfatase
IPR002591 Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase
IPR017850 Alkaline-phosphatase-like, core domain

PFAM

PF00884
PF01663

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P34059

PhosphoSite