HEXB R284* [lysosomal lumen]

Stable Identifier
R-HSA-3700930
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
HEXBB, Beta-hexosaminidase subunit beta B, HEXB_HUMAN, HEXB
Icon
HEXB R284* [lysosomal lumen] icon
HEXB R284* [lysosomal lumen] icon
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:P07686 HEXB
Gene Names
HEXB, HCC7
Chain
signal peptide:1-42, propeptide:43-121, chain:122-556, chain:122-311, chain:315-556
Reference Genes
BioGPS Gene:3074 HEXB
COSMIC (genes):HEXB HEXB
CTD Gene:3074 HEXB
dbSNP Gene:3074 HEXB
ENSEMBL:ENSG00000049860 HEXB
ENSEMBL_homo_sapiens_GENE:ENSG00000049860.14 HEXB
HGNC:4879 HEXB
KEGG Gene (Homo sapiens):3074 HEXB
Monarch:3074 HEXB
NCBI Gene:3074 HEXB
OMIM:606873 HEXB
UCSC:P07686 HEXB
Reference Transcript
Other Identifiers
11715837_a_at
16986203
201944_PM_at
201944_at
2815804
2815805
2815806
2815807
2815808
2815810
2815815
2815816
2815817
2815820
2815822
2815824
2815825
2815826
2815830
2815832
2815833
2815834
2815837
2815839
2815841
2815842
2815843
2815844
3074
8106252
A_14_P100715
A_14_P119296
GE60505
GO:0001501
GO:0001669
GO:0003824
GO:0004553
GO:0004563
GO:0005515
GO:0005576
GO:0005615
GO:0005764
GO:0005773
GO:0005975
GO:0006351
GO:0006355
GO:0006629
GO:0006687
GO:0006689
GO:0006790
GO:0006874
GO:0007040
GO:0007338
GO:0007341
GO:0007605
GO:0007626
GO:0008049
GO:0008152
GO:0008360
GO:0008375
GO:0008654
GO:0009313
GO:0015929
GO:0016020
GO:0016740
GO:0016787
GO:0016798
GO:0019538
GO:0019915
GO:0019953
GO:0022414
GO:0030154
GO:0030203
GO:0030207
GO:0030209
GO:0030214
GO:0031410
GO:0035578
GO:0042552
GO:0042582
GO:0042802
GO:0043202
GO:0043226
GO:0043615
GO:0045944
GO:0048477
GO:0048856
GO:0048870
GO:0050877
GO:0050885
GO:0050905
GO:0051651
GO:0055065
GO:0060473
GO:0070050
GO:0070062
GO:0102148
GO:1901135
GO:1905379
HMNXSV003058045
M23294_at
PH_hs_0022175
TC05000359.hg
TC05002451.hg
g13128866_3p_s_at
Participates
as a member of
Other forms of this molecule
HEXB S62L [lysosomal lumen]
HEXB M26Cfs*5 [lysosomal lumen]
HEXB I322Kfs*5 [lysosomal lumen]
HEXB(315-556) [extracellular region]
HEXB(122-311) [extracellular region]
HEXB(315-556) [azurophil granule lumen]
HEXB(122-311) [azurophil granule lumen]
HEXB(316-556) [lysosomal lumen]
HEXB(122-311) [lysosomal lumen]
HEXB(50-107) [lysosomal lumen]
Modified Residues
Name
Nonsense mutation at L-arginine 284
Coordinate
284
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
gangliosidosis GM2 DOID:3321 GM>2< gangliosidosis (disorder)
Cross References
RefSeq
OpenTargets
ZINC - Substances
ZINC target
PRO
PDB
HPA
GeneCards
Ensembl
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (6)
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