GALNS G301C [lysosomal lumen]

Stable Identifier
R-HSA-2245324
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
N-acetylgalactosamine-6-sulfatase, GALNS_HUMAN, p.Gly301Cys GALNS
Locations in the PathwayBrowser
Expand all
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 Gene (Homo sapiens):2588 GALNS
Monarch:2588 GALNS
NCBI Gene:2588 GALNS
OMIM:612222 GALNS
UCSC:P34059 GALNS
Reference Transcript
Other Identifiers
0001450736
00531+3.1.6.4
11720379_s_at
11749556_a_at
16829242
206335_at
2588
26404
32100_r_at
3704512
3704514
3704515
3704521
3704522
3704525
3704526
3704528
3704529
3704530
3704531
3704532
3704533
3704538
3704539
3704541
3704553
3704554
3704555
42433
4FDI
4FDJ
8003410
A_23_P106562
AAC51350
AAH50684
AAH56151
BAA04535
BC050684
BC056151
CAB026404
CCDS10970
D17629
ENSG00000141012
ENSP00000268695
ENST00000268695
ENST00000268695.9
EntrezGene:2588
EntrezGene:GALNS
g9945384_3p_at
GALNS
GALNS-201
GE62635
GO:0002376
GO:0003674
GO:0003824
GO:0003943
GO:0004065
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005764
GO:0005773
GO:0006790
GO:0006810
GO:0008150
GO:0008484
GO:0009056
GO:0016192
GO:0016787
GO:0031410
GO:0035578
GO:0042340
GO:0043167
GO:0043202
GO:0043226
GO:0043312
GO:0043890
GO:0044281
GO:0046872
GO:0070062
H3BNU2
H3BP66
H3BSU9
H3BV24
HGNC:4122
HPA042433
ILMN_1737949
IPR000917
IPR017850
IPR024607
IPR035626
MIM:253000
MIM:612222
NM_000512
NM_001323543
NM_001323544
NP_000503
NP_001310472
NP_001310473
PF00884
PF14707
PH_hs_0009707
Q6MZF5
TC16001345.hg
U06078
U06079
U06080
U06081
U06082
U06083
U06084
U06085
U06086
U06087
U06088
U06088_at
UPI000012AF92
XM_005256301
XM_011522982
XM_017023111
XM_017023112
XM_017023113
XP_005256358
XP_011521284
XP_016878600
XP_016878601
XP_016878602
Participant Of
hasMember
Other forms of this molecule
GALNS R386C [lysosomal lumen]
GALNS I113F [lysosomal lumen]
OxA-GALNS [extracellular region]
OxA-GALNS [azurophil granule lumen]
OxA-GALNS [lysosomal lumen]
Modified Residues
Name
glycine 301 replaced with L-cysteine
Coordinate
301
PsiMod
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
Disease
Name Identifier Synonyms
mucopolysaccharidosis IV 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
OpenTargets
GeneCards
PRO
Orphanet
PDB
HMDB Protein