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HEXA Y427Ifs*5 [lysosomal lumen]
Stable Identifier
R-HSA-3700918
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
Beta-hexosaminidase subunit alpha, HEXA_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosaminoglycan metabolism (Homo sapiens)
Defective HEXA causes GM2G1 (Homo sapiens)
Defective HEXA does not cleave the terminal GalNAc from DS (Homo sapiens)
HEXA Y427Ifs*5 [lysosomal lumen] (Homo sapiens)
Defective HEXA does not cleave the terminal GalNAc from keratan sulfate (Homo sapiens)
HEXA Y427Ifs*5 [lysosomal lumen] (Homo sapiens)
Defective HEXA does not cleave the terminall GalNAc from small HA fragments (Homo sapiens)
HEXA Y427Ifs*5 [lysosomal lumen] (Homo sapiens)
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
HGNC:4878 HEXA
KEGG:hsa:3073 HEXA
Monarch:3073 HEXA
NCBI Gene:3073 HEXA
OMIM:606869 HEXA
UCSC:P06865 HEXA
Reference Transcript
RefSeq:NM_001318825.1 HEXA
RefSeq:NM_000520.5 HEXA
Other Identifiers
11716888_s_at
11756829_x_at
11760301_x_at
11760302_a_at
11760303_x_at
11760536_a_at
11760537_x_at
11762848_a_at
16811437
201765_PM_s_at
201765_s_at
215155_PM_at
215155_at
243511_PM_at
243511_at
3073
35418_at
35419_g_at
3632163
3632164
3632165
3632166
3632167
3632168
3632169
3632170
3632171
3632172
3632173
3632174
3632175
3632176
3632177
3632178
3632179
3632180
3632181
3632182
3632183
3632184
3632185
3632186
3632187
3632188
3632189
3632190
3632191
3632192
3632193
3632194
3632196
3632197
3632198
3632199
3632200
3632201
3632202
3632203
3632204
3632205
3632207
3632209
3632210
3632211
3632212
39340_at
48251_at
62860_at
7990211
A_19_P00803285
GE57507
GE79844
GO:0001501
GO:0003824
GO:0004553
GO:0004563
GO:0005515
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:0008375
GO:0016020
GO:0016740
GO:0016787
GO:0016798
GO:0019915
GO:0019953
GO:0022414
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:0070062
GO:0102148
GO:1901135
GO:1905379
HMNXSV003054347
Hs.119403.0.A1_3p_a_at
Hs.149332.0.A1_3p_at
Hs.166299.0.S1_3p_at
ILMN_1813911
M16424_at
PH_hs_0019542
PH_hs_0033214
TC15002611.hg
TC15002779.hg
Other forms of this molecule
HEXA(23-73) [lysosomal lumen]
HEXA(88-528) [lysosomal lumen]
Modified Residues
Name
Replacement of residues 427 to 430 by ILWP
Disease
Name
Identifier
Synonyms
gangliosidosis GM1
DOID:3322
GM1 gangliosidosis (disorder), GM>1< gangliosidosis (disorder), beta-Galactosidase deficiency, deficiency of beta-galactosidase (disorder), Beta-galactosidase deficiency, Landing syndrome
Cross References
OpenTargets
ENSG00000213614
ENSEMBL
ENSP00000268097
,
ENST00000268097
ZINC - Substances
HEXA_HUMAN
ZINC target
P06865
PRO
P06865
GlyGen
P06865
PDB
2GK1
,
2GJX
IntEnz
3.2.1.52
HPA
ENSG00000213614-HEXA
Pharos - Targets
P06865
Orphanet
HEXA
ZINC - Predictions - Purchasable
HEXA_HUMAN
HMDB Protein
HMDBP00872
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P07686 HEXB
11
HEXB S62L [lysosomal lumen]
(R-HSA-3700901)
HEXB R284* [lysosomal lumen]
(R-HSA-3700930)
HEXB M26Cfs*5 [lysosomal lumen]
(R-HSA-3700843)
HEXB I322Kfs*5 [lysosomal lumen]
(R-HSA-3700889)
HEXB(316-556) [lysosomal lumen]
(R-HSA-1605605)
HEXB(122-311) [azurophil granule lumen]
(R-HSA-6799125)
HEXB(315-556) [azurophil granule lumen]
(R-HSA-6799134)
HEXB(122-311) [extracellular region]
(R-HSA-6806190)
HEXB(315-556) [extracellular region]
(R-HSA-6806188)
HEXB(50-107) [lysosomal lumen]
(R-HSA-9842398)
HEXB(122-311) [lysosomal lumen]
(R-HSA-1605777)
0.734
5
UniProt:Q15554 TERF2
2
p-S365-TERF2 [nucleoplasm]
(R-HSA-9686530)
TERF2 [nucleoplasm]
(R-HSA-174895)
0.527
2
UniProt:Q9BTZ2 DHRS4
3
DHRS4 [cytosol]
(R-HSA-9033122)
DHRS4 [peroxisomal matrix]
(R-HSA-9033097)
DHRS4 [endoplasmic reticulum membrane]
(R-HSA-2980897)
0.527
2
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