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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
  • Mucopolysaccharidosis Type IVA 2
  • Morquio Syndrome 2
  • GALNAC6S 3
  • EC 3.1.6 63
  • MPS4A 3
  • 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GALNS Gene

Chromosome:
16
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 Asn 204 and Asn 423
  • Modification sites at PhosphoSitePlus

Other Protein References for GALNS Gene

Antibody Products

Domains & Families for GALNS Gene

Gene Families for GALNS Gene

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 :
  • Belongs to the sulfatase family.
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GALNS

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets 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
extracellular 5
lysosome 5
vacuole 5
cytosol 2

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 & Interactions 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: P34059-GALNS_HUMAN ENSP00000268695 for GALNS Gene via I2D STRING

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

No data available for SIGNOR curated interactions for GALNS Gene

Drugs & Compounds for GALNS Gene

(14) Drugs for GALNS Gene - From: NovoSeek, DrugBank, HMDB, and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Elosulfase alfa Approved Pharma Enzyme, Other 0
Morphine Approved, Investigational Pharma Partial agonist, Agonist 805
Fibrinolysin Approved Pharma 23
Heparin Approved, Investigational Pharma Antagonist 672,226
Hyaluronan Approved Pharma 328

(28) Additional Compounds for GALNS Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Sulfate
  • Sulfate (ion 2-)
  • Sulfate anion
  • Sulfate anion(2-)
  • Sulfate dianion
  • Sulfate ion
14808-79-8
D-Galactose
  • (+)-Galactose
  • 5abp
  • 8abp
  • alpha D-Galactose
  • alpha-D-Galactopyranose
59-23-4
Keratan
  • Keratan 6'-sulfate
  • Keratan 6'-sulphate
  • Keratan sulfate
  • Keratan sulphate
  • Kerato 6'-sulfate
69992-87-6
N-Acetylgalactosamine
  • 2-Acetamido-2-deoxy-a-D-allopyranose
  • 2-Acetamido-2-deoxy-a-D-glucopyranose
  • 2-Acetamido-2-deoxy-alpha-D-allopyranose
  • 2-Acetamido-2-deoxy-alpha-D-glucopyranose
  • 2-Acetamido-2-deoxy-alpha-delta-allopyranose
1811-31-0
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GALNS

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for GALNS Gene

This gene is overexpressed in Urine (27.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GALNS: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
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
chimpanzee
(Pan troglodytes)
Mammalia GALNS 35
  • 97.39 (n)
  • 97.17 (a)
GALNS 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Galns 35
  • 82.82 (n)
  • 85.82 (a)
oppossum
(Monodelphis domestica)
Mammalia GALNS 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALNS 36
  • 70 (a)
OneToOne
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)
zebrafish
(Danio rerio)
Actinopterygii Dr.13248 35
galns 35
  • 69.29 (n)
  • 68.54 (a)
galns 36
  • 70 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10350 35
worm
(Caenorhabditis elegans)
Secernentea D1014.1 37
  • 33 (a)
sul-2 36
  • 27 (a)
OneToMany
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

(4) 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
rs747232 -- 88,824,618(+) CTGAA(C/T)GACTG intron-variant
rs897958 -- 88,838,666(+) TGCGC(A/G)GCCTG intron-variant
rs1064315 Benign 88,835,775(-) ACGCA(C/T)GCACC reference, synonymous-codon
rs1141390 -- 88,814,072(-) GTGCC(C/T)GAGGT utr-variant-3-prime
rs1318210 -- 88,838,803(+) GTTCT(G/T)CTGCA 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

Variation tolerance for GALNS Gene

Residual Variation Intolerance Score: 71.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.63; 82.75% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(20) MalaCards diseases for GALNS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
mucopolysaccharidosis iva
  • galactosamine-6-sulfatase deficiency
mucopolysaccharidosis iv
  • mucopolysaccharidosis type ivb
mucopolysaccharidosis is
  • mucopolysaccharidosis ih
ketothiolase deficiency
  • alpha-methylacetoaceticaciduria
mucopolysaccharidosis ii
  • hunter syndrome
- elite association
Search GALNS in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for GALNS

Genetic Association Database (GAD)
GALNS
Human Genome Epidemiology (HuGE) Navigator
GALNS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GALNS
genes like me logo Genes that share disorders with GALNS: view

No data available for Genatlas for GALNS Gene

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 23 67
  2. Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. (PMID: 20332769) Tomatsu S. … Sly W.S. (Mol. Ther. 2010) 23 67
  3. Synergistic effects of transplanted adult neural stem/progenitor cells, chondroitinase, and growth factors promote functional repair and plasticity of the chronically injured spinal cord. (PMID: 20130176) Karimi-Abdolrezaee S. … Fehlings M.G. (J. Neurosci. 2010) 23 67
  4. Scar-busting chondroitinase with peripheral nerve grafting promotes axonal regeneration in chronic spinal cord injury. (PMID: 20087118) Chi J.H. (Neurosurgery 2010) 23 67
  5. The endothelial glycocalyx mediates shear-induced changes in hydraulic conductivity. (PMID: 19286951) Lopez-Quintero S.V. … Tarbell J.M. (Am. J. Physiol. Heart Circ. Physiol. 2009) 23 67

Products for GALNS Gene

Sources for GALNS Gene

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