Entry |
|
Gene name |
HEXA, TSD
|
Definition |
(RefSeq) hexosaminidase subunit alpha
|
KO |
|
Organism |
|
Pathway |
| Other glycan degradation | | Amino sugar and nucleotide sugar metabolism | | Glycosaminoglycan degradation | | Glycosphingolipid biosynthesis - globo and isoglobo series | | Glycosphingolipid biosynthesis - ganglio series | | Metabolic pathways | | Lysosome |
|
Module |
| Keratan sulfate degradation |
|
Disease |
| GM2 gangliosidoses | | Defects in the degradation of ganglioside | | Tay-Sachs disease |
|
Brite |
KEGG Orthology (KO) [BR:hsa00001]
Metabolism
Carbohydrate metabolism
00520 Amino sugar and nucleotide sugar metabolism
3073 (HEXA)
Glycan biosynthesis and metabolism
00531 Glycosaminoglycan degradation
3073 (HEXA)
00603 Glycosphingolipid biosynthesis - globo and isoglobo series
3073 (HEXA)
00604 Glycosphingolipid biosynthesis - ganglio series
3073 (HEXA)
00511 Other glycan degradation
3073 (HEXA)
Cellular Processes
Transport and catabolism
04142 Lysosome
3073 (HEXA)
Enzymes [BR:hsa01000]
3. Hydrolases
3.2 Glycosylases
3.2.1 Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds
3.2.1.52 beta-N-acetylhexosaminidase
3073 (HEXA)
Chaperones and folding catalysts [BR:hsa03110]
Intramolecular chaperones
Others
3073 (HEXA)
 |
SSDB |
   |
Motif |
 |
Other DBs |
NCBI-GeneID: NCBI-ProteinID: OMIM: HGNC: Ensembl: Vega: Pharos: UniProt: |
LinkDB |
 |
Structure |
PDB: |
Position |
15q23
|
AA seq |
529 aa  
MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSV
LDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTI
NDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHY
LPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVK
EVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEF
MSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLL
DIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPW
YLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAV
AERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT |
NT seq |
1590 nt  +upstreamnt +downstreamnt
atgacaagctccaggctttggttttcgctgctgctggcggcagcgttcgcaggacgggcg
acggccctctggccctggcctcagaacttccaaacctccgaccagcgctacgtcctttac
ccgaacaactttcaattccagtacgatgtcagctcggccgcgcagcccggctgctcagtc
ctcgacgaggccttccagcgctatcgtgacctgcttttcggttccgggtcttggccccgt
ccttacctcacagggaaacggcatacactggagaagaatgtgttggttgtctctgtagtc
acacctggatgtaaccagcttcctactttggagtcagtggagaattataccctgaccata
aatgatgaccagtgtttactcctctctgagactgtctggggagctctccgaggtctggag
acttttagccagcttgtttggaaatctgctgagggcacattctttatcaacaagactgag
attgaggactttccccgctttcctcaccggggcttgctgttggatacatctcgccattac
ctgccactctctagcatcctggacactctggatgtcatggcgtacaataaattgaacgtg
ttccactggcatctggtagatgatccttccttcccatatgagagcttcacttttccagag
ctcatgagaaaggggtcctacaaccctgtcacccacatctacacagcacaggatgtgaag
gaggtcattgaatacgcacggctccggggtatccgtgtgcttgcagagtttgacactcct
ggccacactttgtcctggggaccaggtatccctggattactgactccttgctactctggg
tctgagccctctggcacctttggaccagtgaatcccagtctcaataatacctatgagttc
atgagcacattcttcttagaagtcagctctgtcttcccagatttttatcttcatcttgga
ggagatgaggttgatttcacctgctggaagtccaacccagagatccaggactttatgagg
aagaaaggcttcggtgaggacttcaagcagctggagtccttctacatccagacgctgctg
gacatcgtctcttcttatggcaagggctatgtggtgtggcaggaggtgtttgataataaa
gtaaagattcagccagacacaatcatacaggtgtggcgagaggatattccagtgaactat
atgaaggagctggaactggtcaccaaggccggcttccgggcccttctctctgccccctgg
tacctgaaccgtatatcctatggccctgactggaaggatttctacatagtggaacccctg
gcatttgaaggtacccctgagcagaaggctctggtgattggtggagaggcttgtatgtgg
ggagaatatgtggacaacacaaacctggtccccaggctctggcccagagcaggggctgtt
gccgaaaggctgtggagcaacaagttgacatctgacctgacatttgcctatgaacgtttg
tcacacttccgctgtgaattgctgaggcgaggtgtccaggcccaacccctcaatgtaggc
ttctgtgagcaggagtttgaacagacctga |