HEXB M26Cfs*5 [lysosomal lumen]

Stable Identifier
R-HSA-3700843
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
HEXBB, Beta-hexosaminidase subunit beta B, HEXB_HUMAN, HEXB
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 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
00511+3.2.1.52
00513+3.2.1.52
00520+3.2.1.52
00531+3.2.1.52
00603+3.2.1.52
00604+3.2.1.52
11715837_a_at
16986203
201944_at
2815804
2815805
2815806
2815807
2815808
2815810
2815815
2815816
2815817
2815820
2815822
2815824
2815825
2815826
2815830
2815832
2815833
2815834
2815837
2815839
2815841
2815842
3074
55409
56010
8106252
A_14_P100715
A_14_P119296
CCDS4022
D6REQ8
ENSG00000049860
ENSP00000261416
ENST00000261416
EntrezGene:3074
g13128866_3p_s_at
GE60505
GO:0000003
GO:0000902
GO:0001501
GO:0001669
GO:0002376
GO:0003674
GO:0004553
GO:0004563
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005764
GO:0005773
GO:0005975
GO:0006629
GO:0006687
GO:0006689
GO:0006790
GO:0006810
GO:0006874
GO:0007040
GO:0007338
GO:0007341
GO:0007605
GO:0007626
GO:0008049
GO:0008150
GO:0008152
GO:0008360
GO:0008375
GO:0008654
GO:0009056
GO:0009058
GO:0009313
GO:0016020
GO:0016192
GO:0016757
GO:0016787
GO:0016798
GO:0019915
GO:0019953
GO:0030154
GO:0030203
GO:0030207
GO:0030214
GO:0031323
GO:0031410
GO:0034641
GO:0035578
GO:0040011
GO:0042340
GO:0042552
GO:0042582
GO:0042592
GO:0042803
GO:0043202
GO:0043226
GO:0043312
GO:0043615
GO:0044267
GO:0044281
GO:0045944
GO:0046982
GO:0048477
GO:0048856
GO:0048870
GO:0050877
GO:0050885
GO:0050905
GO:0070062
GO:0102148
HEXB
HEXB-201
HGNC:4879
IPR015883
IPR017853
IPR025705
IPR029018
IPR029019
M23294_at
MIM:268800
MIM:606873
NM_000521
NP_000512
PF00728
PF14845
PH_hs_0022175
PR00738
Q5URX0
TC05000359.hg
TC05002451.hg
uc003kdf.4
UPI000013D183
Participant Of
hasMember
Other forms of this molecule
HEXB S62L [lysosomal lumen]
HEXB R284* [lysosomal lumen]
HEXB I322Kfs*5 [lysosomal lumen]
HEXB(315-556) [extracellular region]
HEXB(122-311) [lysosomal lumen]
HEXB(315-556) [lysosomal lumen]
HEXB(122-311) [azurophil granule lumen]
HEXB(315-556) [azurophil granule lumen]
HEXB(122-311) [extracellular region]
Modified Residues
Name
Replacement of residues 26 to 29 by CWRC
Disease
Name Identifier Synonyms
gangliosidosis GM2 3321 GM>2< gangliosidosis (disorder)
Cross References
RefSeq
OpenTargets
GeneCards
ZINC - Substances
DOCK Blaster
ZINC target
PRO
BRENDA (Homo sapiens)
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
PDB
Interactors (2)