GALNS R386C [lysosomal lumen]

Stable Identifier
R-HSA-2245326
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
N-acetylgalactosamine-6-sulfatase, GALNS_HUMAN, p.Arg386Cys GALNS mutant
Icon
GALNS R386C [lysosomal lumen] icon
GALNS R386C [lysosomal lumen] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P34059 GALNS
Gene Names
GALNS
Chain
signal peptide:1-26, chain:27-522
Reference Genes
BioGPS Gene:2588 GALNS
COSMIC (genes):GALNS GALNS
CTD Gene:2588 GALNS
dbSNP Gene:2588 GALNS
ENSEMBL:ENSG00000141012 GALNS
HGNC:4122 GALNS
KEGG:hsa:2588 GALNS
Monarch:2588 GALNS
NCBI Gene:2588 GALNS
OMIM:612222 GALNS
UCSC:P34059 GALNS
Reference Transcript
Other Identifiers
11720379_s_at
11749556_a_at
16829242
206335_PM_at
206335_at
236866_PM_at
236866_at
2588
32100_r_at
3704512
3704514
3704515
3704521
3704522
3704524
3704525
3704526
3704528
3704529
3704530
3704531
3704532
3704533
3704534
3704535
3704536
3704537
3704538
3704539
3704540
3704541
3704542
3704548
3704549
3704550
3704551
3704552
3704553
3704554
3704555
48903_at
8003410
A_23_P106562
GE62635
GO:0003824
GO:0003943
GO:0004065
GO:0005576
GO:0005764
GO:0005773
GO:0008484
GO:0016787
GO:0035578
GO:0043202
GO:0043226
GO:0043890
GO:0046872
GO:0070062
HMNXSV003001598
Hs.93834.0.A1_3p_at
ILMN_1737949
PH_hs_0009707
TC16001345.hg
U06088_at
g9945384_3p_at
Participates
as a member of
Other forms of this molecule
GALNS G301C [lysosomal lumen]
GALNS I113F [lysosomal lumen]
OxA-GALNS [lysosomal lumen]
OxA-GALNS [extracellular region]
OxA-GALNS [azurophil granule lumen]
Modified Residues
Name
L-arginine 386 replaced with L-cysteine
Coordinate
386
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name Identifier Synonyms
mucopolysaccharidosis IV DOID:12804 mucopolysaccharidosis type IVA, Osteochondrodystrophy, deficiency of N-acetylgalactosamine-6-sulphatase, chondroosteodystrophy, Osteochondrodystrophy, Morquio syndrome A, MORQUIO A DISEASE, Mucopolysaccharidosis, MPS-IV-A (disorder), Mucopolysaccharidosis, MPS-IV, deficiency of chondroitinsulphatase, GALACTOSAMINE-6-SULFATASE DEFICIENCY
Cross References
Guide to Pharmacology - Targets
ENSEMBL
OpenTargets
GeneCards
HPA
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
Interactors (1)
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