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

Gene ID: 2588, updated on 18-Aug-2020

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

Genomic context

See GALNS in Genome Data Viewer
Location:
16q24.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (88813734..88856966, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88880142..88923374, 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 2 like 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
N-acetylgalactosamine-4-sulfatase activity TAS
Traceable Author Statement
more info
PubMed 
N-acetylgalactosamine-6-sulfatase activity IEA
Inferred from Electronic Annotation
more info
 
arylsulfatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
sulfuric ester hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
keratan sulfate catabolic process TAS
Traceable Author Statement
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
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)

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 109.20200815

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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