HGSNAT R344C [lysosomal membrane]

Stable Identifier
R-HSA-2245233
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal membrane
Synonyms
Heparan-alpha-glucosaminide N-acetyltransferase, HGNAT_HUMAN, p.Arg344Cys HGSNAT mutant
Icon
HGSNAT R344C [lysosomal membrane] icon
HGSNAT R344C [lysosomal membrane] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:Q68CP4 HGSNAT
Gene Names
HGSNAT, TMEM76
Chain
chain:1-663
Reference Genes
BioGPS Gene:138050 HGSNAT
COSMIC (genes):HGSNAT HGSNAT
CTD Gene:138050 HGSNAT
dbSNP Gene:138050 HGSNAT
ENSEMBL:ENSG00000165102 HGSNAT
ENSEMBL_homo_sapiens_GENE:ENSG00000165102.15 HGSNAT
HGNC:26527 HGSNAT
KEGG Gene (Homo sapiens):138050 HGSNAT
Monarch:138050 HGSNAT
NCBI Gene:138050 HGSNAT
OMIM:610453 HGSNAT
UCSC:Q68CP4 HGSNAT
Reference Transcript
Other Identifiers
11724233_a_at
11724234_at
11724235_a_at
138050
17068642
218017_PM_s_at
218017_s_at
222491_PM_at
222491_at
227564_PM_at
227564_at
3096577
3096583
3096588
3096589
3096590
3096592
3096593
3096597
3096598
3096603
3096604
3096607
3096608
3096610
3096613
3096618
3096622
3096624
3096625
3096626
3096627
3096628
3096629
3096630
3096631
3096632
3096633
57503_at
63343_at
8146285
A_14_P110068
A_14_P200672
A_23_P112061
A_23_P147950
A_24_P120827
A_24_P16378
GE87314
GO:0003824
GO:0005764
GO:0005765
GO:0005773
GO:0005886
GO:0006790
GO:0007041
GO:0015019
GO:0016020
GO:0016740
GO:0016746
GO:0030163
GO:0030200
GO:0031410
GO:0035579
GO:0043202
GO:0043226
GO:0051259
GO:0065003
GO:0070821
GO:1901135
HMNXSV003005930
HMNXSV003017476
Hs.288057.0.S1_3p_at
Hs.288057.1.A1_3p_at
ILMN_1662413
ILMN_1711465
PH_hs_0022915
TC08000333.hg
g13376612_3p_a_at
Participates
as a member of
Other forms of this molecule
HGSNAT W403C;A615T [lysosomal membrane]
HGSNAT S518F [lysosomal membrane]
HGSNAT R384* [lysosomal membrane]
HGSNAT [lysosomal membrane]
HGSNAT [specific granule membrane]
HGSNAT [plasma membrane]
HGSNAT [tertiary granule membrane]
Modified Residues
Name
L-arginine 344 replaced with L-cysteine
Coordinate
344
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 DOID:12798 Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, Mucopolysaccharidosis NOS (disorder), mucopolysaccharidosis, Mucopolysaccharidosis [Ambiguous]
Cross References
RefSeq
OpenTargets
IntEnz
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
HMDB Protein
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