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

Gene ID: 2588, updated on 6-Jul-2014
Official Symbol
GALNSprovided by HGNC
Official Full Name
galactosamine (N-acetyl)-6-sulfataseprovided by HGNC
Primary source
HGNC:4122
See related
Ensembl:ENSG00000141012; HPRD:08357; MIM:612222; Vega:OTTHUMG00000137862
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]
See GALNS in Epigenomics, MapViewer
Location:
16q24.3
Exon count :
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 adenine phosphoribosyltransferase Neighboring gene trafficking protein particle complex 2-like Neighboring gene poly(A) binding protein, nuclear 1-like (cytoplasmic)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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
 
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
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
glycosaminoglycan metabolic process TAS
Traceable Author Statement
more info
 
keratan sulfate catabolic process TAS
Traceable Author Statement
more info
 
keratan sulfate metabolic process TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
Preferred Names
N-acetylgalactosamine-6-sulfatase
Names
N-acetylgalactosamine-6-sulfatase
chondroitinase
galNAc6S sulfatase
chondroitinsulfatase
galactose-6-sulfate sulfatase
N-acetylgalactosamine-6-sulfate sulfatase
galactosamine (N-acetyl)-6-sulfate sulfatase
NP_000503.1

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 

    Range
    5001..48233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000512.4NP_000503.1  N-acetylgalactosamine-6-sulfatase precursor

    See proteins identical to NP_000503.1

    Status: REVIEWED

    Source sequence(s)
    BC007825, BC050684, DA010361
    Consensus CDS
    CCDS10970.1
    UniProtKB/Swiss-Prot
    P34059
    UniProtKB/TrEMBL
    Q96I49
    Related
    ENSP00000268695, OTTHUMP00000175193, ENST00000268695, OTTHUMT00000269543
    Conserved Domains (3) summary
    COG3119
    Location:31483
    Blast Score: 619
    AslA; Arylsulfatase A and related enzymes [Inorganic ion transport and metabolism]
    pfam00884
    Location:31355
    Blast Score: 648
    Sulfatase; Sulfatase
    pfam14707
    Location:379509
    Blast Score: 390
    Sulfatase_C; C-terminal region of aryl-sulfatase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

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

mRNA and Protein(s)

  1. XM_005256301.1XP_005256358.1  

    Conserved Domains (3) summary
    COG3119
    Location:31483
    Blast Score: 623
    AslA; Arylsulfatase A and related enzymes [Inorganic ion transport and metabolism]
    pfam00884
    Location:31355
    Blast Score: 651
    Sulfatase; Sulfatase
    pfam14707
    Location:379506
    Blast Score: 341
    Sulfatase_C; C-terminal region of aryl-sulfatase
  2. XM_005256303.1XP_005256360.1  

    See proteins identical to XP_005256360.1

    UniProtKB/TrEMBL
    Q6YL38
    Conserved Domains (2) summary
    pfam14707
    Location:194324
    Blast Score: 391
    Sulfatase_C; C-terminal region of aryl-sulfatase
    cl19157
    Location:5170
    Blast Score: 325
    Sulfatase; Sulfatase
  3. XM_005256302.1XP_005256359.1  

    Conserved Domains (3) summary
    COG3119
    Location:46489
    Blast Score: 570
    AslA; Arylsulfatase A and related enzymes [Inorganic ion transport and metabolism]
    pfam00884
    Location:47361
    Blast Score: 610
    Sulfatase; Sulfatase
    pfam14707
    Location:385515
    Blast Score: 387
    Sulfatase_C; C-terminal region of aryl-sulfatase

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    74577353..74620495
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    90291409..90334642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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