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HUMAN:HEXA
Contents |
| Species (Taxon ID) | Homo sapiens (Human). ([1]) | |
| Gene Name(s) | HEXA | |
| Protein Name(s) | Beta-hexosaminidase subunit alpha
Beta-N-acetylhexosaminidase subunit alpha Hexosaminidase subunit A N-acetyl-beta-glucosaminidase subunit alpha | |
| External Links | ||
| EMBL | M16424 M16411 M16412 M16413 M16414 M16415 M16416 M16417 M16418 M16419 M16420 M16421 M16422 M16423 S62076 S62047 S62049 S62051 S62053 S62055 S62057 S62059 S62061 S62063 S62066 S62068 S62070 S62072 AK222502 CR627386 AC009690 BC018927 BC084537 M13520 | |
| IPI | IPI00027851 | |
| PIR | A23561 | |
| RefSeq | NP_000511.2 | |
| UniGene | Hs.604479 Hs.709495 | |
| PDB | 1QBC 2GJX 2GK1 | |
| PDBsum | 1QBC 2GJX 2GK1 | |
| ProteinModelPortal | P06865 | |
| SMR | P06865 | |
| IntAct | P06865 | |
| MINT | MINT-1393072 | |
| STRING | P06865 | |
| CAZy | GH20 | |
| PeptideAtlas | P06865 | |
| PRIDE | P06865 | |
| Ensembl | ENST00000268097 | |
| GeneID | 3073 | |
| KEGG | hsa:3073 | |
| UCSC | uc002aun.2 | |
| CTD | 3073 | |
| GeneCards | GC15M049466 | |
| H-InvDB | HIX0012407 HIX0038336 | |
| HGNC | HGNC:4878 | |
| MIM | 272800 606869 | |
| neXtProt | NX_P06865 | |
| Orphanet | 845 | |
| PharmGKB | PA29256 | |
| eggNOG | prNOG08644 | |
| HOVERGEN | HBG005961 | |
| InParanoid | P06865 | |
| OrthoDB | EOG42Z4Q7 | |
| BioCyc | MetaCyc:ENSG00000140495-MONOMER | |
| ArrayExpress | P06865 | |
| Bgee | P06865 | |
| CleanEx | HS_HEXA | |
| Genevestigator | P06865 | |
| GermOnline | ENSG00000140488 | |
| GO | GO:0005764 GO:0004563 GO:0043169 GO:0046982 GO:0008219 | |
| InterPro | IPR015882 IPR001540 IPR015883 IPR013781 IPR017853 | |
| Gene3D | G3DSA:3.20.20.80 | |
| KO | K12373 | |
| Pfam | PF00728 PF02838 | |
| PRINTS | PR00738 | |
| SUPFAM | SSF51445 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0001501 |
skeletal system development |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
P |
Seeded From UniProt |
|||
| GO:0003824 |
catalytic activity |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0004553 |
hydrolase activity, hydrolyzing O-glycosyl compounds |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0004563 |
beta-N-acetylhexosaminidase activity |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0004563 |
beta-N-acetylhexosaminidase activity |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0004563 |
beta-N-acetylhexosaminidase activity |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0004563 |
beta-N-acetylhexosaminidase activity |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
F |
Seeded From UniProt |
|||
| GO:0005764 |
lysosome |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005764 |
lysosome |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
C |
Seeded From UniProt |
|||
| GO:0005764 |
lysosome |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0158 |
C |
Seeded From UniProt |
|||
| GO:0005975 |
carbohydrate metabolic process |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0005975 |
carbohydrate metabolic process |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0005975 |
carbohydrate metabolic process |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0006689 |
ganglioside catabolic process |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
P |
Seeded From UniProt |
|||
| GO:0007040 |
lysosome organization |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
P |
Seeded From UniProt |
|||
| GO:0007605 |
sensory perception of sound |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
P |
Seeded From UniProt |
|||
| GO:0007626 |
locomotory behavior |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
P |
Seeded From UniProt |
|||
| GO:0007628 |
adult walking behavior |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
P |
Seeded From UniProt |
|||
| GO:0008152 |
metabolic process |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0008219 |
cell death |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0016020 |
membrane |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
C |
Seeded From UniProt |
|||
| GO:0016787 |
hydrolase activity |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0016798 |
hydrolase activity, acting on glycosyl bonds |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0019915 |
lipid storage |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
P |
Seeded From UniProt |
|||
| GO:0019953 |
sexual reproduction |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
P |
Seeded From UniProt |
|||
| GO:0030203 |
glycosaminoglycan metabolic process |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
P |
Seeded From UniProt |
|||
| GO:0042552 |
myelination |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
P |
Seeded From UniProt |
|||
| GO:0043169 |
cation binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0046982 |
protein heterodimerization activity |
IDA: Inferred from Direct Assay |
|
F |
Seeded From UniProt |
|||
| GO:0048667 |
cell morphogenesis involved in neuron differentiation |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
P |
Seeded From UniProt |
|||
| GO:0050884 |
neuromuscular process controlling posture |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
P |
Seeded From UniProt |
|||
| GO:0050885 |
neuromuscular process controlling balance |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000026262 |
P |
Seeded From UniProt |
|||
| GO:0007399 |
nervous system development |
IMP: Inferred from Mutant Phenotype |
P |
Figure 4. New mutations in the HEXA gene have been found to cause Tay-Sachs disease. |
complete | |||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ Proia RL et al. (1984) Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts. J Biol Chem 259: 3350-4 PubMed GONUTS page
- ↑ Triggs-Raine BL et al. (1991) Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. Am J Hum Genet 49: 1041-54 PubMed GONUTS page
