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Aliases for GALNS Gene

Aliases for GALNS Gene

  • Galactosamine (N-Acetyl)-6-Sulfatase 2 3 5
  • 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 61
  • GalN6S 3 4
  • N-Acetylgalactosamine-6-Sulfatase 3
  • Mucopolysaccharidosis Type IVA 2
  • Morquio Syndrome 2
  • GALNAC6S 3
  • EC 3.1.6 61
  • 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 Immune System and Lysosome. GO annotations related to this gene include sulfuric ester hydrolase activity and N-acetylgalactosamine-6-sulfatase activity. An important paralog of this gene is ARSA.

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

Enhancers for GALNS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F088809 0.6 ENCODE 30.9 +45.7 45693 4.4 HDGF PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SNORD68 GALNS LOC101927863 RPL13 ENSG00000260121 ENSG00000259877 ZNF778 CTU2 APRT SPG7
GH16F088839 0.5 Ensembl 22 +16.6 16570 1.2 ZNF263 BCOR ADNP MAX ZMYM3 MYC GALNS PIR42461 TRAPPC2L
GH16F088879 1.2 Ensembl ENCODE 18.4 -23.9 -23898 3.7 HDGF CBX3 ZFP64 KLF17 ZNF2 RARA EGR1 SCRT2 KLF7 CREM GALNS TRAPPC2L LOC100129697 CBFA2T3 LOC101927793 PABPN1L
GH16F088817 0.4 ENCODE 14.3 +38.6 38601 1.4 ZFHX2 POLR2A MBD1 MNT EGR2 GALNS APRT PIR44482 ENSG00000280675
GH16F088882 0.7 ENCODE 13.2 -26.8 -26805 2.0 CTCF KLF1 CBX3 SP3 KLF17 MNT KLF4 SP1 ZFHX2 POLR2A GALNS TRAPPC2L LOC100129697 CBFA2T3 LOC101927793 LOC102724632
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GALNS on UCSC Golden Path with GeneCards custom track

Promoters for GALNS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000054068 -330 2201 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ZNF207 FOS SP3

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

Genes around GALNS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GALNS Gene

neXtProt entry for GALNS Gene

Selected DME Specific Peptides for GALNS Gene

P34059:
  • PSRAALLTGRLP
  • DDMGWGDLG
  • DFCPGQNVSGVTTH
  • NTFVFFTSDNGAAL
  • ANPLCSPSRAALLTGRLPIR
  • LPLIFHLGRDPGERFPL
  • AVMNWAPPGCEKLGKCLTPPES
  • DATHAPVYAS

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

Antibody Products

  • Abcam antibodies for GALNS

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:0003943 N-acetylgalactosamine-4-sulfatase activity TAS 8325655
GO:0008484 sulfuric ester hydrolase activity IEA,IDA 15962010
GO:0016787 hydrolase activity IEA --
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

Human Phenotype Ontology for GALNS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GALNS Gene

MGI Knock Outs for GALNS:

Animal Model Products

Inhibitory RNA 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
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GALNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
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 Reactome 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 IID

Gene Ontology (GO) - Biological Process for GALNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
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

(19) Drugs for GALNS Gene - From: DrugBank, PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
elosulfase alfa Approved Pharma Enzyme, Other 0
Morphine Approved, Investigational Pharma Full agonist, Agonist 960
Water Approved Pharma 0
Pharmaceutical Solutions Pharma 7793
calcium Nutra 0

(24) Additional Compounds for GALNS Gene - From: Novoseek and HMDB

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
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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for GALNS Gene



NURSA nuclear receptor signaling pathways regulating expression of GALNS Gene:

GALNS

SOURCE GeneReport for Unigene cluster for GALNS Gene:

Hs.271383
genes like me logo Genes that share expression patterns with GALNS: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners 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 34 35
  • 97.39 (n)
dog
(Canis familiaris)
Mammalia GALNS 34 35
  • 86.18 (n)
cow
(Bos Taurus)
Mammalia GALNS 34 35
  • 84.9 (n)
mouse
(Mus musculus)
Mammalia Galns 34 16 35
  • 83.75 (n)
rat
(Rattus norvegicus)
Mammalia Galns 34
  • 82.82 (n)
oppossum
(Monodelphis domestica)
Mammalia GALNS 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALNS 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALNS 34 35
  • 75.68 (n)
lizard
(Anolis carolinensis)
Reptilia GALNS 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galns 34
  • 71.57 (n)
zebrafish
(Danio rerio)
Actinopterygii galns 34 35
  • 69.29 (n)
Dr.13248 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10350 34
worm
(Caenorhabditis elegans)
Secernentea D1014.1 36
  • 33 (a)
sul-2 35
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 61 (a)
OneToOne
Species where no ortholog for GALNS was found in the sources mined by GeneCards:
  • 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:

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
rs118204435 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000], Pathogenic 88,836,222(-) GCCAA(C/G)CTCAC reference, missense
rs118204436 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000], Pathogenic 88,841,001(-) GATTG(C/T)CGGCA reference, missense, utr-variant-5-prime
rs118204437 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000], Pathogenic 88,824,853(-) ATTAC(C/T)GTGGC downstream-variant-500B, reference, missense
rs118204438 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000], Pathogenic 88,841,077(-) AGGAG(A/T)TTGTG reference, missense, utr-variant-5-prime
rs118204440 Mucopolysaccharidosis 4A (MPS4A) [MIM:253000], Pathogenic 88,818,029(-) GCTCA(A/G)CGTGT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv3064n100 CNV gain 25217958
dgv3065n100 CNV gain 25217958
dgv37n68 CNV loss 17160897
esv1489877 CNV insertion 17803354
esv22725 CNV loss 19812545
esv2661245 CNV deletion 23128226
esv2674381 CNV deletion 23128226
esv2715046 CNV deletion 23290073
esv2715047 CNV deletion 23290073
esv2715048 CNV deletion 23290073
esv2715049 CNV deletion 23290073
esv2715050 CNV deletion 23290073
esv2715051 CNV deletion 23290073
esv2715053 CNV deletion 23290073
esv2715054 CNV deletion 23290073
esv2715055 CNV deletion 23290073
esv2715056 CNV deletion 23290073
esv2715057 CNV deletion 23290073
esv2715058 CNV deletion 23290073
esv2715059 CNV deletion 23290073
esv2715060 CNV deletion 23290073
esv2715061 CNV deletion 23290073
esv2715062 CNV deletion 23290073
esv2740749 CNV deletion 23290073
esv29821 CNV loss 19812545
esv3639555 CNV gain 21293372
esv3639561 CNV gain 21293372
esv3639562 CNV loss 21293372
esv3892938 CNV loss 25118596
esv7598 CNV loss 19470904
nsv1061256 CNV gain 25217958
nsv1063024 CNV gain 25217958
nsv1063441 CNV loss 25217958
nsv457617 CNV gain 19166990
nsv471115 CNV loss 18288195
nsv471117 CNV gain 18288195
nsv482951 CNV loss 15286789
nsv521217 CNV loss 19592680
nsv527997 CNV loss 19592680
nsv528898 CNV loss 19592680
nsv573674 CNV gain 21841781
nsv573714 CNV gain 21841781
nsv819907 CNV gain 19587683
nsv952071 CNV deletion 24416366

Variation tolerance for GALNS Gene

Residual Variation Intolerance Score: 72% 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

Human Gene Mutation Database (HGMD)
GALNS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALNS

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

Disorders for GALNS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mucopolysaccharidosis iva
  • mucopolysaccharidosis, type iva
mucopolysaccharidosis iv
  • chondroosteodystrophy
osteochondrodysplasia
  • cartilage development disorder
spondyloepiphyseal dysplasia with congenital joint dislocations
  • mucopolysaccharidosis iv
spondyloepiphyseal dysplasia tarda
  • mucopolysaccharidosis iv
- elite association - COSMIC cancer census association via MalaCards
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 3 4 22 64
  2. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). (PMID: 16287098) Tomatsu S. … Orii T. (Hum. Mutat. 2005) 3 4 22 64
  3. Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. (PMID: 9521421) Yamada N. … Orii T. (Hum. Mutat. 1998) 3 4 22 64
  4. Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. (PMID: 9375852) Tomatsu S. … Orii T. (Hum. Mutat. 1997) 3 4 22 64
  5. Identification of 31 novel mutations in the N-acetylgalactosamine-6- sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. (PMID: 9298823) Bunge S. … Gal A. (Hum. Mutat. 1997) 3 4 22 64

Products for GALNS Gene

Sources for GALNS Gene

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