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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
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Genomic context

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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

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