Version 5.4
Homo sapiens Gene: GALNS
Summary
InnateDB Gene IDBG-46865.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GALNS
Gene Name galactosamine (N-acetyl)-6-sulfate sulfatase
Synonyms GalN6S; GALNAC6S; GAS; MPS4A
Species Homo sapiens
Ensembl Gene ENSG00000141012
Encoded Proteins
IDBP-46867
galactosamine (N-acetyl)-6-sulfate sulfatase
IDBP-745497
IDBP-747984
IDBP-748337
IDBP-745749
IDBP-747815
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:88813734-88856970
Strand Reverse strand
Band q24.3
Transcripts
ENST00000268695 ENSP00000268695
ENST00000566563
ENST00000564263
ENST00000567779
ENST00000562593
ENST00000569433 ENSP00000456884
ENST00000562831 ENSP00000455174
ENST00000561812
ENST00000567525 ENSP00000454484
ENST00000568613 ENSP00000457921
ENST00000562931
ENST00000565364
ENST00000568311 ENSP00000455006
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000015027
View Gene Order
ENSBTAG00000004568
Not yet available
Pathways
NETPATH
REACTOME
REACT_121313
Keratan sulfate degradation pathway
REACT_147853
Mucopolysaccharidoses pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_267711
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_267713
Defective CHST6 causes MCDC1 pathway
REACT_121288
Keratan sulfate/keratin metabolism pathway
REACT_147719
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_267645
Defective PAPSS2 causes SEMD-PA pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_147749
MPS IIID - Sanfilippo syndrome D pathway
REACT_267662
Defective SLC26A2 causes chondrodysplasias pathway
REACT_147739
MPS IX - Natowicz syndrome pathway
REACT_267674
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_267642
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_147798
MPS IV - Morquio syndrome B pathway
REACT_267659
Defective B3GAT3 causes JDSSDHD pathway
REACT_267708
Defective CHST3 causes SEDCJD pathway
REACT_147825
MPS IV - Morquio syndrome A pathway
REACT_267654
Defective EXT2 causes exostoses 2 pathway
REACT_267707
Diseases associated with glycosaminoglycan metabolism pathway
REACT_147734
MPS II - Hunter syndrome pathway
REACT_267635
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_121315
Glycosaminoglycan metabolism pathway
REACT_267705
Diseases of glycosylation pathway
REACT_147759
MPS VII - Sly syndrome pathway
REACT_267682
Defective CHSY1 causes TPBS pathway
REACT_111217
Metabolism pathway
REACT_147857
MPS I - Hurler syndrome pathway
REACT_147753
MPS IIIA - Sanfilippo syndrome A pathway
REACT_147860
MPS IIIC - Sanfilippo syndrome C pathway
REACT_116125
Disease pathway
REACT_200833
Glycogen storage diseases pathway
REACT_147788
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
hsa00531
Glycosaminoglycan degradation pathway
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.271383 Hs.633513
RefSeq NM_000512 XM_005256302 XM_005256303
HUGO
OMIM
CCDS CCDS10970
HPRD 08357
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca