GALNS I113F [lysosomal lumen]

Stable Identifier
R-HSA-2245331
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
N-acetylgalactosamine-6-sulfatase, GALNS_HUMAN, p.Ile113Phe GALNS mutant
Icon
GALNS I113F [lysosomal lumen] icon
GALNS I113F [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
ENSEMBL_homo_sapiens_GENE:ENSG00000141012.13 GALNS
HGNC:4122 GALNS
KEGG Gene (Homo sapiens):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
2588
32100_r_at
3704512
3704514
3704515
3704521
3704522
3704525
3704526
3704528
3704529
3704530
3704531
3704532
3704533
3704538
3704539
3704541
3704553
3704554
3704555
8003410
A_23_P106562
GE62635
GO:0003824
GO:0003943
GO:0004065
GO:0005576
GO:0005615
GO:0005764
GO:0005773
GO:0008484
GO:0016787
GO:0031410
GO:0035578
GO:0043202
GO:0043226
GO:0043890
GO:0046872
GO:0070062
HMNXSV003001598
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 R386C [lysosomal lumen]
OxA-GALNS [extracellular region]
OxA-GALNS [azurophil granule lumen]
OxA-GALNS [lysosomal lumen]
Modified Residues
Name
L-isoleucine 113 replaced with L-phenylalanine
Coordinate
113
PsiMod
L-phenylalanine residue [MOD:00023]
A protein modification that effectively converts a source amino acid residue to L-phenylalanine.
L-isoleucine removal [MOD:01640]
A protein modification that effectively removes or replaces an L-isoleucine.
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
RefSeq
Guide to Pharmacology - Targets
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
HMDB Protein
Interactors (1)
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