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

    Gene ID: 2588, updated on 8-Jul-2021

    Summary

    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
    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

    See GALNS in Genome Data Viewer
    Location:
    16q24.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (88813734..88856966, complement)
    105.20201022 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 chromatin licensing and DNA replication factor 1 Neighboring gene proline-rich proteoglycan 2-like Neighboring gene adenine phosphoribosyltransferase Neighboring gene uncharacterized LOC107983950 Neighboring gene trafficking protein particle complex subunit 2L Neighboring gene PABPN1 like, cytoplasmic Neighboring gene uncharacterized LOC101927793 Neighboring gene CBFA2/RUNX1 partner transcriptional co-repressor 3

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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

    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_016878600.1
    XP_016878601.1
    XP_016878602.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000512.5NP_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
      UniProtKB/TrEMBL
      Q96I49
      Related
      ENSP00000268695.5, ENST00000268695.10
      Conserved Domains (1) summary
      cd16157
      Location:30494
      GALNS; galactosamine-6-sulfatase; also known as N-acetylgalactosamine-6-sulfatase (GALNS)
    2. NM_001323543.2NP_001310472.1  N-acetylgalactosamine-6-sulfatase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AA436724, BC007825, BE875288, BP296821, DA149503
      UniProtKB/TrEMBL
      Q6YL38, Q96I49
      Conserved Domains (1) summary
      cl23718
      Location:1309
      ALP_like; alkaline phosphatases and sulfatases
    3. NM_001323544.2NP_001310473.1  N-acetylgalactosamine-6-sulfatase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC092384, AK308269, BC007825, DA709138
      UniProtKB/TrEMBL
      Q96I49
      Conserved Domains (2) summary
      COG3119
      Location:46489
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16157
      Location:46500
      GALNS; galactosamine-6-sulfatase; also known as N-acetylgalactosamine-6-sulfatase (GALNS)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      88813734..88856966 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (2) summary
      COG3119
      Location:31483
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16157
      Location:30494
      GALNS; galactosamine-6-sulfatase; also known as N-acetylgalactosamine-6-sulfatase (GALNS)
    2. XM_017023113.1XP_016878602.1  N-acetylgalactosamine-6-sulfatase isoform X5

    3. XM_011522982.2XP_011521284.1  N-acetylgalactosamine-6-sulfatase isoform X1

      Conserved Domains (2) summary
      COG3119
      Location:46489
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16157
      Location:46500
      GALNS; galactosamine-6-sulfatase; also known as N-acetylgalactosamine-6-sulfatase (GALNS)
    4. XM_017023112.2XP_016878601.1  N-acetylgalactosamine-6-sulfatase isoform X4

      Conserved Domains (2) summary
      COG3119
      Location:46489
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16157
      Location:46500
      GALNS; galactosamine-6-sulfatase; also known as N-acetylgalactosamine-6-sulfatase (GALNS)
    5. XM_017023111.2XP_016878600.1  N-acetylgalactosamine-6-sulfatase isoform X3

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