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    GALNS galactosamine (N-acetyl)-6-sulfatase [ Homo sapiens (human) ]

    Gene ID: 2588, updated on 3-Apr-2024

    Summary

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    Official Symbol
    GALNSprovided by HGNC
    Official Full Name
    galactosamine (N-acetyl)-6-sulfataseprovided by HGNC
    Primary source
    HGNC:HGNC:4122
    See related
    Ensembl:ENSG00000141012 MIM:612222; AllianceGenome:HGNC:4122
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GAS; MPS4A; GalN6S; GALNAC6S
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 4.9), testis (RPKM 3.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GALNS in Genome Data Viewer
    Location:
    16q24.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (88813734..88856947, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (94884254..94927341, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88880142..88923355, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88869451-88870026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88870745-88871628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88871629-88872511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88873249-88873762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88876670-88877205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7879 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88878711-88879395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88879396-88880079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88882597-88883098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88883099-88883598 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:88884193-88885392 Neighboring gene chromatin licensing and DNA replication factor 1 Neighboring gene adenine phosphoribosyltransferase Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7882 Neighboring gene uncharacterized LOC107983950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7883 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88930168-88930918 Neighboring gene trafficking protein particle complex subunit 2L Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11373 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:88940900-88941052 Neighboring gene PABPN1 like, cytoplasmic Neighboring gene uncharacterized LOC101927793 Neighboring gene CBFA2/RUNX1 partner transcriptional co-repressor 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family. Ghafoor S, et al. Genes (Basel), 2022 Sep 27. PMID 36292628, Free PMC Article
    2. The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome. Sheth H, et al. BMC Genomics, 2022 Jun 21. PMID 35729508, Free PMC Article
    3. Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA. Yi M, et al. J Inherit Metab Dis, 2022 May. PMID 35212421
    4. The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report. Frigeni M, et al. Am J Med Genet A, 2021 Nov. PMID 34472180
    5. Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants. Zanetti A, et al. Hum Mutat, 2021 Nov. PMID 34387910, Free PMC Article

    See all (83) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.
      Title: Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.
    2. The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.
      Title: The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.
    3. Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
      Title: Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
    4. Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
      Title: Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
    5. The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report.
      Title: The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report.
    6. Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.
      Title: Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.
    7. Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy.
      Title: Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy.
    8. Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
      Title: Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
    9. he aim of our work was to analyze the aforementioned anthropometric parameters, including correlation to molecular data (causative GALNS mutations).
      Title: Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe.
    10. Insights into the initial and follow-up clinical features and height values that contribute to the differential diagnosis of the severe and intermediate phenotypes in Mucopolysaccharidosis IV A in early childhood. Eleven mutations in GALNS gene in which one of them is novel (c.416G>A) were associated with the severe phenotype and three mutations (c.1038C>A, c.850T>G, c.752G>A) lead to the attenuated phenotype.
      Title: Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mucopolysaccharidosis, MPS-IV-A
    MedGen: C0086651 OMIM: 253000 GeneReviews: Mucopolysaccharidosis Type IVA
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ17434, FLJ42844, FLJ98217

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetylgalactosamine-4-sulfatase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables N-acetylgalactosamine-6-sulfatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables arylsulfatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sulfuric ester hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    N-acetylgalactosamine-6-sulfatase
    Names
    N-acetylgalactosamine-6-sulfate sulfatase
    chondroitinase
    chondroitinsulfatase
    galNAc6S sulfatase
    galactosamine (N-acetyl)-6-sulfate sulfatase
    galactose-6-sulfate sulfatase
    NP_000503.1
    NP_001310472.1
    NP_001310473.1
    XP_005256358.1
    XP_011521284.1
    XP_016878601.1
    XP_016878602.1
    XP_047289845.1
    XP_047289846.1
    XP_047289847.1
    XP_047289848.1
    XP_054235973.1
    XP_054235974.1
    XP_054235975.1
    XP_054235976.1
    XP_054235977.1
    XP_054235978.1
    XP_054235979.1
    XP_054235980.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008667.1 RefSeqGene

      Range
      5020..48233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000512.5 → NP_000503.1  N-acetylgalactosamine-6-sulfatase isoform 1 precursor

      See identical proteins and their annotated locations for NP_000503.1

      Status: REVIEWED

      Source sequence(s)
      BC007825, BC050684
      Consensus CDS
      CCDS10970.1
      UniProtKB/Swiss-Prot
      P34059, Q86VK3
      UniProtKB/TrEMBL
      A0A1A7UP97
      Related
      ENSP00000268695.5, ENST00000268695.10
      Conserved Domains (1) summary
      cd16157
      Location:30 → 494
      GALNS; galactosamine-6-sulfatase; also known as N-acetylgalactosamine-6-sulfatase (GALNS)

    2. NM_001323543.2 → NP_001310472.1  N-acetylgalactosamine-6-sulfatase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AA436724, BC007825, BE875288, BP296821, DA149503
      UniProtKB/TrEMBL
      Q6YL38
      Conserved Domains (1) summary
      cl23718
      Location:1 → 309
      ALP_like; alkaline phosphatases and sulfatases

    3. NM_001323544.2 → NP_001310473.1  N-acetylgalactosamine-6-sulfatase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC092384, AK308269, BC007825, DA709138
      UniProtKB/TrEMBL
      A0A1A7UP97, B2R6P1
      Conserved Domains (2) summary
      COG3119
      Location:46 → 489
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16157
      Location:46 → 500
      GALNS; galactosamine-6-sulfatase; also known as N-acetylgalactosamine-6-sulfatase (GALNS)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      88813734..88856947 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023113.2 → XP_016878602.1  N-acetylgalactosamine-6-sulfatase isoform X6

    2. XM_047433891.1 → XP_047289847.1  N-acetylgalactosamine-6-sulfatase isoform X7

    3. XM_005256301.4 → XP_005256358.1  N-acetylgalactosamine-6-sulfatase isoform X2

      UniProtKB/TrEMBL
      A0A1A7UP97
      Conserved Domains (2) summary
      COG3119
      Location:31 → 483
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16157
      Location:30 → 494
      GALNS; galactosamine-6-sulfatase; also known as N-acetylgalactosamine-6-sulfatase (GALNS)

    4. XM_047433890.1 → XP_047289846.1  N-acetylgalactosamine-6-sulfatase isoform X5

    5. XM_011522982.3 → XP_011521284.1  N-acetylgalactosamine-6-sulfatase isoform X1

      Conserved Domains (2) summary
      COG3119
      Location:46 → 489
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16157
      Location:46 → 500
      GALNS; galactosamine-6-sulfatase; also known as N-acetylgalactosamine-6-sulfatase (GALNS)

    6. XM_017023112.3 → XP_016878601.1  N-acetylgalactosamine-6-sulfatase isoform X4

      UniProtKB/TrEMBL
      A0A1A7UP97, B2R6P1
      Conserved Domains (2) summary
      COG3119
      Location:46 → 489
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16157
      Location:46 → 500
      GALNS; galactosamine-6-sulfatase; also known as N-acetylgalactosamine-6-sulfatase (GALNS)

    7. XM_047433889.1 → XP_047289845.1  N-acetylgalactosamine-6-sulfatase isoform X3

    8. XM_047433892.1 → XP_047289848.1  N-acetylgalactosamine-6-sulfatase isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      94884254..94927341 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380003.1 → XP_054235978.1  N-acetylgalactosamine-6-sulfatase isoform X6

    2. XM_054380004.1 → XP_054235979.1  N-acetylgalactosamine-6-sulfatase isoform X7

    3. XM_054379999.1 → XP_054235974.1  N-acetylgalactosamine-6-sulfatase isoform X2

    4. XM_054380002.1 → XP_054235977.1  N-acetylgalactosamine-6-sulfatase isoform X5

    5. XM_054379998.1 → XP_054235973.1  N-acetylgalactosamine-6-sulfatase isoform X1

    6. XM_054380001.1 → XP_054235976.1  N-acetylgalactosamine-6-sulfatase isoform X4

    7. XM_054380000.1 → XP_054235975.1  N-acetylgalactosamine-6-sulfatase isoform X3

    8. XM_054380005.1 → XP_054235980.1  N-acetylgalactosamine-6-sulfatase isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P34059.1 GenPept UniProtKB/Swiss-Prot:P34059

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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