HEXA(88-528) [lysosomal lumen]

Stable Identifier
R-HSA-1605799
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
Beta-hexosaminidase subunit alpha subchain, HEXA_HUMAN
Icon
HEXA(88-528) [lysosomal lumen] icon
HEXA(88-528) [lysosomal lumen] icon
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
16698036 Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis

Mahuran, DJ, James, MN, Lemieux, MJ, Mark, BL, Withers, SG, Cherney, MM

J Mol Biol 2006
12662933 Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease

Knapp, S, Zhao, D, Mahuran, DJ, James, MN, Mark, BL, Cherney, MM

J Mol Biol 2003
External Reference Information
External Reference
UniProt:P06865 HEXA
Gene Names
HEXA
Chain
signal peptide:1-22, propeptide:23-88, chain:89-529
Reference Genes
BioGPS Gene:3073 HEXA
COSMIC (genes):HEXA HEXA
CTD Gene:3073 HEXA
dbSNP Gene:3073 HEXA
ENSEMBL:ENSG00000213614 HEXA
ENSEMBL_homo_sapiens_GENE:ENSG00000213614.11 HEXA
HGNC:4878 HEXA
KEGG Gene (Homo sapiens):3073 HEXA
Monarch:3073 HEXA
NCBI Gene:3073 HEXA
OMIM:606869 HEXA
UCSC:P06865 HEXA
Reference Transcript
Other Identifiers
11716888_s_at
11756829_x_at
11760303_x_at
11760537_x_at
16811437
201765_PM_s_at
201765_s_at
243511_PM_at
243511_at
3073
3632163
3632164
3632165
3632166
3632167
3632168
3632169
3632170
3632171
3632172
3632175
3632178
3632179
3632181
3632183
3632184
3632185
3632187
3632189
3632190
3632193
3632196
3632209
3632210
39340_at
48251_at
62860_at
7990211
A_19_P00803285
GE79844
GO:0001501
GO:0003824
GO:0004553
GO:0004563
GO:0005515
GO:0005576
GO:0005615
GO:0005764
GO:0005773
GO:0005829
GO:0005975
GO:0006024
GO:0006629
GO:0006689
GO:0006790
GO:0007040
GO:0007605
GO:0007626
GO:0007628
GO:0008152
GO:0008375
GO:0016020
GO:0016740
GO:0016787
GO:0016798
GO:0019915
GO:0019953
GO:0023052
GO:0030154
GO:0030203
GO:0030209
GO:0030214
GO:0031410
GO:0042552
GO:0042582
GO:0043202
GO:0043226
GO:0043231
GO:0046982
GO:0048667
GO:0048856
GO:0050877
GO:0050884
GO:0050885
GO:0051651
GO:0060395
GO:0070062
GO:0102148
GO:1901135
GO:1905379
HMNXSV003054347
Hs.119403.0.A1_3p_a_at
Hs.149332.0.A1_3p_at
ILMN_1813911
M16424_at
PH_hs_0019542
TC15002611.hg
TC15002779.hg
Participates
as a component of
Other forms of this molecule
HEXA Y427Ifs*5 [lysosomal lumen]
HEXA(23-73) [lysosomal lumen]
Inferred To
hexb2 [lysosomal lumen] (Dictyostelium discoideum)
hexa2 [lysosomal lumen] (Dictyostelium discoideum)
Hexo1 [lysosomal lumen] (Drosophila melanogaster)
nagE [lysosomal lumen] (Dictyostelium discoideum)
hex-1 [lysosomal lumen] (Caenorhabditis elegans)
Hexa [lysosomal lumen] (Mus musculus)
Hexa [lysosomal lumen] (Rattus norvegicus)
HEXA [lysosomal lumen] (Bos taurus)
HEXA [lysosomal lumen] (Canis familiaris)
HEXA [lysosomal lumen] (Sus scrofa)
Homologues of HEXA(88-528) [lysosomal lumen] (Dictyostelium discoideum)
Homologues of HEXA(88-528) [lysosomal lumen] (Drosophila melanogaster)
hexb1 [lysosomal lumen] (Dictyostelium discoideum)
HEXA(88-528) [lysosomal lumen] (Gallus gallus)
hexa1 [lysosomal lumen] (Dictyostelium discoideum)
fdl [lysosomal lumen] (Drosophila melanogaster)
Hexo2 [lysosomal lumen] (Drosophila melanogaster)
Modified Residues
Name
Inter-chain Crosslink via L-cystine (cross-link) at 104 and 58
Coordinate
104
PsiMod Name
L-cystine (cross-link)
PsiMod Definition
A protein modification that effectively cross-links two L-cysteine residues to form L-cystine.
Cross References
RefSeq
OpenTargets
ZINC - Substances
ZINC target
PRO
PDB
IntEnz
HPA
GeneCards
Ensembl
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
Interactors (1)
Cite Us!