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Aliases for GALNS Gene

Aliases for GALNS Gene

  • Galactosamine (N-Acetyl)-6-Sulfatase 2 3
  • Galactosamine (N-Acetyl)-6-Sulfate Sulfatase 2 3
  • N-Acetylgalactosamine-6-Sulfate Sulfatase 3 4
  • Galactose-6-Sulfate Sulfatase 3 4
  • Chondroitinsulfatase 3 4
  • GalNAc6S Sulfatase 3 4
  • Chondroitinase 3 4
  • EC 3.1.6.4 4 63
  • GalN6S 3 4
  • MPS4A 3 6
  • N-Acetylgalactosamine-6-Sulfatase 3
  • Mucopolysaccharidosis Type IVA 2
  • Morquio Syndrome 2
  • GALNAC6S 3
  • EC 3.1.6 63
  • GAS 3

External Ids for GALNS Gene

Previous GeneCards Identifiers for GALNS Gene

  • GC16P080398
  • GC16P090059
  • GC16M088583
  • GC16M088624
  • GC16M087407
  • GC16M088880
  • GC16M074577

Summaries for GALNS Gene

Entrez Gene Summary for GALNS Gene

  • 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]

GeneCards Summary for GALNS Gene

GALNS (Galactosamine (N-Acetyl)-6-Sulfatase) is a Protein Coding gene. Diseases associated with GALNS include mucopolysaccharidosis iva and mucopolysaccharidosis iv. Among its related pathways are Lysosome and Metabolism. GO annotations related to this gene include sulfuric ester hydrolase activity and N-acetylgalactosamine-6-sulfatase activity. An important paralog of this gene is ARSJ.

Gene Wiki entry for GALNS Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALNS Gene

Genomics for GALNS Gene

Regulatory Elements for GALNS Gene

Genomic Location for GALNS Gene

Start:
88,813,734 bp from pter
End:
88,856,970 bp from pter
Size:
43,237 bases
Orientation:
Minus strand

Genomic View for GALNS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GALNS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNS Gene

Proteins for GALNS Gene

  • Protein details for GALNS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P34059-GALNS_HUMAN
    Recommended name:
    N-acetylgalactosamine-6-sulfatase
    Protein Accession:
    P34059
    Secondary Accessions:
    • Q86VK3

    Protein attributes for GALNS Gene

    Size:
    522 amino acids
    Molecular mass:
    58026 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds 1 Ca(2+) ion per subunit.;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GALNS Gene

neXtProt entry for GALNS Gene

Proteomics data for GALNS Gene at MOPED

Post-translational modifications for GALNS Gene

  • The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.
  • Glycosylation at Asn204 and Asn423
  • Modification sites at PhosphoSitePlus

Other Protein References for GALNS Gene

Domains for GALNS Gene

Gene Families for GALNS Gene

HGNC:
  • ARS :Arylsulfatase family

Protein Domains for GALNS Gene

Suggested Antigen Peptide Sequences for GALNS Gene

Graphical View of Domain Structure for InterPro Entry

P34059

UniProtKB/Swiss-Prot:

GALNS_HUMAN :
  • P34059
Family:
  • Belongs to the sulfatase family.
genes like me logo Genes that share domains with GALNS: view

Function for GALNS Gene

Molecular function for GALNS Gene

GENATLAS Biochemistry: acetyl-galactosamine-6-sulfate sulfatase,lysosomal,acting on keratan sulfate,stepwise degradation of glycosaminoglycans (mucopolysaccharides)
UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.

Enzyme Numbers (IUBMB) for GALNS Gene

Gene Ontology (GO) - Molecular Function for GALNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0003943 N-acetylgalactosamine-4-sulfatase activity TAS 8325655
GO:0008484 sulfuric ester hydrolase activity IDA 15962010
GO:0043890 N-acetylgalactosamine-6-sulfatase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GALNS: view
genes like me logo Genes that share phenotypes with GALNS: view

Animal Models for GALNS Gene

MGI Knock Outs for GALNS:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for GALNS Gene

Localization for GALNS Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNS Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GALNS Gene COMPARTMENTS Subcellular localization image for GALNS gene
Compartment Confidence
lysosome 5
vacuole 5
extracellular 2
cytosol 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GALNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with GALNS: view

Pathways for GALNS Gene

genes like me logo Genes that share pathways with GALNS: view

Pathways by source for GALNS Gene

2 Qiagen pathways for GALNS Gene

Interacting Proteins for GALNS Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000268695%0d%0a9606.ENSP00000306920%0d%0a
Selected Interacting proteins: ENSP00000268695 P34059-GALNS_HUMAN for GALNS Gene via STRING I2D

Gene Ontology (GO) - Biological Process for GALNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0008152 metabolic process --
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0042339 keratan sulfate metabolic process TAS --
GO:0042340 keratan sulfate catabolic process TAS --
genes like me logo Genes that share ontologies with GALNS: view

Compounds for GALNS Gene

(6) HMDB Compounds for GALNS Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
D-Galactose
  • (+)-Galactose
59-23-4
Keratan
  • Kerato sulfate
69992-87-6
N-Acetylgalactosamine
  • 2-Acetamido-2-desoxy-b-D-talofuranose
1811-31-0
Sulfate
  • Sulfate (ion 2-)
14808-79-8

(35) Novoseek inferred chemical compound relationships for GALNS Gene

Compound -log(P) Hits PubMed IDs
n-acetylgalactosamine 6-sulfate 98.6 67
galactose 6-sulfate 90.4 6
chondroitin sulfate 88.5 32
keratan sulfate 82.8 14
dermatan sulfate 82.6 10
genes like me logo Genes that share compounds with GALNS: view

Transcripts for GALNS Gene

Unigene Clusters for GALNS Gene

Galactosamine (N-acetyl)-6-sulfate sulfatase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GALNS Gene

No ASD Table

Relevant External Links for GALNS Gene

GeneLoc Exon Structure for
GALNS
ECgene alternative splicing isoforms for
GALNS

Expression for GALNS Gene

mRNA expression in normal human tissues for GALNS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for GALNS Gene

SOURCE GeneReport for Unigene cluster for GALNS Gene Hs.271383

genes like me logo Genes that share expressions with GALNS: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GALNS Gene

Orthologs for GALNS Gene

This gene was present in the common ancestor of animals.

Orthologs for GALNS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALNS 35
  • 97.39 (n)
  • 97.17 (a)
GALNS 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GALNS 35
  • 84.9 (n)
  • 87.72 (a)
GALNS 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALNS 35
  • 86.18 (n)
  • 87.72 (a)
GALNS 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Galns 35
  • 83.75 (n)
  • 85.74 (a)
Galns 16
Galns 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GALNS 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALNS 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Galns 35
  • 82.82 (n)
  • 85.82 (a)
chicken
(Gallus gallus)
Aves GALNS 35
  • 75.68 (n)
  • 79.56 (a)
GALNS 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALNS 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galns 35
  • 71.57 (n)
  • 76.94 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10350 35
zebrafish
(Danio rerio)
Actinopterygii Dr.13248 35
galns 35
  • 69.29 (n)
  • 68.54 (a)
galns 36
  • 70 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sul-2 36
  • 27 (a)
OneToMany
D1014.1 37
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 61 (a)
OneToOne
Species with no ortholog for GALNS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GALNS Gene

ENSEMBL:
Gene Tree for GALNS (if available)
TreeFam:
Gene Tree for GALNS (if available)

Paralogs for GALNS Gene

Paralogs for GALNS Gene

Selected SIMAP similar genes for GALNS Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for GALNS Gene

genes like me logo Genes that share paralogs with GALNS: view

Variants for GALNS Gene

Sequence variations from dbSNP and Humsavar for GALNS Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs501445 -- 88,817,556(+) ACCGG(C/G)AAGTG intron-variant
rs506914 -- 88,845,254(-) cctgc(C/T)ggcta intron-variant
rs507540 -- 88,824,198(-) ACGCT(C/T)CAGCA intron-variant
rs529390 -- 88,817,557(-) GCACT(G/T)CCCGG intron-variant
rs533638 -- 88,854,349(-) GGGGG(G/T)CCTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GALNS Gene

Variant ID Type Subtype PubMed ID
nsv907226 CNV Loss 21882294
nsv907268 CNV Loss 21882294
dgv2978n71 CNV Loss 21882294
dgv2979n71 CNV Loss 21882294
nsv907278 CNV Loss 21882294
nsv907296 CNV Loss 21882294
nsv907307 CNV Gain 21882294
nsv907313 CNV Loss 21882294
dgv2988n71 CNV Loss 21882294
dgv2989n71 CNV Gain 21882294
nsv907320 CNV Loss 21882294
dgv2990n71 CNV Loss 21882294
dgv37n68 CNV Loss 17160897
dgv2991n71 CNV Loss 21882294
dgv2992n71 CNV Loss 21882294
dgv2993n71 CNV Loss 21882294
nsv907336 CNV Loss 21882294
nsv457617 CNV Gain 19166990
dgv2995n71 CNV Loss 21882294
dgv2996n71 CNV Loss 21882294
nsv471115 CNV Loss 18288195
nsv528898 CNV Loss 19592680
nsv471117 CNV Gain 18288195
nsv819907 CNV Gain 19587683
nsv521217 CNV Loss 19592680
esv2715046 CNV Deletion 23290073
esv2715047 CNV Deletion 23290073
nsv907352 CNV Loss 21882294
esv29821 CNV Loss 19812545
esv2661245 CNV Deletion 23128226
esv2715048 CNV Deletion 23290073
esv2740749 CNV Deletion 23290073
esv2715049 CNV Deletion 23290073
nsv527997 CNV Loss 19592680
esv2715050 CNV Deletion 23290073
esv2715051 CNV Deletion 23290073
esv2715053 CNV Deletion 23290073
esv2715054 CNV Deletion 23290073
esv22725 CNV Loss 19812545
esv2715055 CNV Deletion 23290073
esv2715056 CNV Deletion 23290073
esv2715057 CNV Deletion 23290073
esv2715058 CNV Deletion 23290073
esv2715059 CNV Deletion 23290073
esv7598 CNV Loss 19470904
esv1489877 CNV Insertion 17803354
esv2715060 CNV Deletion 23290073
esv2715061 CNV Deletion 23290073
esv2715062 CNV Deletion 23290073
dgv2997n71 CNV Loss 21882294
dgv2998n71 CNV Loss 21882294
esv2674381 CNV Deletion 23128226

Relevant External Links for GALNS Gene

HapMap Linkage Disequilibrium report
GALNS
Human Gene Mutation Database (HGMD)
GALNS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNS Gene

Disorders for GALNS Gene

(1) OMIM Diseases for GALNS Gene (612222)

UniProtKB/Swiss-Prot

GALNS_HUMAN
  • 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:0000269 PubMed:1522213, ECO:0000269 PubMed:16287098, ECO:0000269 PubMed:24726177, ECO:0000269 PubMed:7581409, ECO:0000269 PubMed:7633425, ECO:0000269 PubMed:7668283, ECO:0000269 PubMed:7795586, ECO:0000269 PubMed:8651279, ECO:0000269 PubMed:8826435, ECO:0000269 PubMed:9298823, ECO:0000269 PubMed:9375852, ECO:0000269 PubMed:9521421}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(10) Novoseek inferred disease relationships for GALNS Gene

Disease -log(P) Hits PubMed IDs
mucopolysaccharidosis 92.4 50
morquios syndrome 91.2 26
mps iv a 85.6 6
lysosomal storage diseases 54.9 2
enzyme deficiency 51.9 1

Relevant External Links for GALNS

Genetic Association Database (GAD)
GALNS
Human Genome Epidemiology (HuGE) Navigator
GALNS
genes like me logo Genes that share disorders with GALNS: view

Publications for GALNS Gene

  1. Morquio disease: isolation, characterization and expression of full- length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. (PMID: 1755850) Tomatsu S. … Orii T. (Biochem. Biophys. Res. Commun. 1991) 2 3 4 23
  2. Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene. (PMID: 7668283) Tomatsu S. … Orii T. (Am. J. Hum. Genet. 1995) 3 4 23
  3. Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. (PMID: 1522213) Fukuda S. … Orii T. (J. Clin. Invest. 1992) 3 4 23
  4. Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene. (PMID: 7795586) Ogawa T. … Orii T. (Hum. Mol. Genet. 1995) 3 4 23
  5. Morquio A syndrome: cloning, sequence, and structure of the human N- acetylgalactosamine 6-sulfatase (GALNS) gene. (PMID: 8001980) Morris C.P. … Scott H.S. (Genomics 1994) 3 4 23

Products for GALNS Gene

Sources for GALNS Gene

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