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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | 16 | GAS, GALNAC6S |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 24475022 | 2014 | Cell line : - Source : Shiraz University Hospital, Shiraz, Iran. Sample Type : Fresh frozen tissue archived No. of Sample : 27 Stage : TNM Stage I-IV. | Array CGH,Methylation specific PCR | Mutation | - | Most deletions were noted for ADAM29, CHL1, CSMD3, FBXW7, GALNS, MMP2, NF1, PRKD1, SMAD4 and TP53. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Arylsulfatase family |
| Description | 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] | Chromosome | 16 |
| Location | 16q24.3 |
| Start | 88880142 |
| End | 88923374 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 43233 |
| OMIM ID | 612222 |
| HGNC ID | HGNC:4122 |
| Unigene ID | Hs.271383 |
| Ensembl ID | ENSG00000141012 |
| PharmGKB ID | PA28535 |
mRNA Information
| mRNA ID | NM_000512.4 |
|---|---|
| Exon | join(1..209,14138..14261,14996..15070,15873..15975, 19202..19345,20700..20766,21118..21242,21615..21754, 24866..24969,30129..30265,32098..32200,34257..34378, 38843..38960,42442..43233) | mRNA Sequence | Download Select all |
| Length | 2380 |
Protein Information
| Protein ID | NP_000503.1 |
|---|---|
| Protein Name | galactosamine (N-acetyl)-6-sulfatase |
| Molecular Wt. (Da) | 0 |
| Protein Sequence | Download Select all |
| Length | 522 |
| Uniprot ID | P35249 |
| Ensembl Protein ID | ENSP00000296273 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| N | Glycosylation | 204;- |
| N | Glycosylation | 423;- |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
No matching records from HPRD source could be found.
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Glycosaminoglycan degradation | hsa00531 |
| Lysosome | hsa04142 |
| Metabolic pathways | hsa01100 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam00884 | 31-355 | Sulfatase |
| cl21476 | 31-355 | alkPPc superfamily |
| pfam14707 | 379-509 | Sulfatase_C |
| cl20644 | 379-509 | Sulfatase_C superfamily |
| pfam01663 | 34-296 | Phosphodiest |
| pfam02995 | 179-290 | DUF229 |
| COG3119 | 31-483 | AslA |
| PRK13759 | 27-475 | PRK13759 |
| TIGR03417 | 31-375 | chol_sulfatase |
| COG3083 | 29-360 | YejM |
| COG1368 | 56-394 | MdoB |
Ontology Information
| HPRD ID | 2917 |
|---|---|
| Molecular Class | Enzyme: Sulphatase |
| Molecular Function | GTPase activator activity (GO:0005096) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165) |
Drug Information
| Uniprot ID | DrugBank ID | Name | Type |
|---|---|---|---|
| P34059 | DB09051 | Elosulfase alfa | BiotechDrug |