KEGG   Homo sapiens (human): 3073Help
Entry
3073              CDS       H.sapiens                              
Gene name HEXA
Definition hexosaminidase A (alpha polypeptide) (EC:3.2.1.52)
Orthology K12373  beta-hexosaminidase [EC:3.2.1.52]
Pathway hsa00511  Other glycan degradation
hsa00520  Amino sugar and nucleotide sugar metabolism
hsa00531  Glycosaminoglycan degradation
hsa00603  Glycosphingolipid biosynthesis - globo series
hsa00604  Glycosphingolipid biosynthesis - ganglio series
hsa01100  Metabolic pathways
hsa04142  Lysosome
Disease H00124  GM2 gangliosidoses
Class Metabolism; Carbohydrate Metabolism; Amino sugar and nucleotide
sugar metabolism [PATH:hsa00520]
Metabolism; Glycan Biosynthesis and Metabolism; Glycosphingolipid
biosynthesis - globo series [PATH:hsa00603]
Metabolism; Glycan Biosynthesis and Metabolism; Glycosphingolipid
biosynthesis - ganglio series [PATH:hsa00604]
Metabolism; Glycan Biosynthesis and Metabolism; Glycosaminoglycan
degradation [PATH:hsa00531]
Metabolism; Glycan Biosynthesis and Metabolism; Other glycan
degradation [PATH:hsa00511]
Genetic Information Processing; Folding, Sorting and Degradation;
Chaperones and folding catalysts
Cellular Processes; Transport and Catabolism; Lysosome
[PATH:hsa04142]
BRITE hierarchy
SSDB OrthologParalogGene clusterGFIT
Motif Pfam: Glyco_hydro_20 Glyco_hydro_20b
Motif
Other DBs NCBI-GI: 189181666
NCBI-GeneID: 3073
OMIM: 606869
HGNC: 4878
HPRD: 06040
Ensembl: ENSG00000213614
UniProt: P06865
Structure
PDB: 2GJX 2GK1
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Jmol
Position 15q23-q24
AA seq 529 aa AA seqDB search
MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSV
LDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTI
NDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHY
LPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVK
EVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEF
MSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLL
DIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPW
YLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAV
AERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT
NT seq 1590 nt NT seq  +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
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