Homo sapiens (human): 3073
Help
Entry
3073 CDS
T01001
Symbol
HEXA, TSD
Name
(RefSeq) hexosaminidase subunit alpha
KO
K12373
hexosaminidase [EC:
3.2.1.52
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00511
Other glycan degradation
hsa00513
Various types of N-glycan biosynthesis
hsa00520
Amino sugar and nucleotide sugar metabolism
hsa00531
Glycosaminoglycan degradation
hsa00600
Sphingolipid metabolism
hsa00603
Glycosphingolipid biosynthesis - globo and isoglobo series
hsa00604
Glycosphingolipid biosynthesis - ganglio series
hsa01100
Metabolic pathways
hsa04142
Lysosome
Module
hsa_M00079
Keratan sulfate degradation
Network
nt06012
Glycosaminoglycan degradation
nt06014
Sphingolipid degradation
Element
N00623
Keratan sulfate degradation
N01709
Hydrolysis of globoside
N01710
Hydrolysis of ganglioside
N01711
Hydrolysis of GA1
N01713
GM2A activation of HEXA and HEXB
N01714
Loss of GM2A activation
Disease
H00124
GM2 gangliosidoses
H00426
Gangliosidosis
H02016
Tay-Sachs disease
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09101 Carbohydrate metabolism
00520 Amino sugar and nucleotide sugar metabolism
3073 (HEXA)
09103 Lipid metabolism
00600 Sphingolipid metabolism
3073 (HEXA)
09107 Glycan biosynthesis and metabolism
00513 Various types of N-glycan biosynthesis
3073 (HEXA)
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)
09140 Cellular Processes
09141 Transport and catabolism
04142 Lysosome
3073 (HEXA)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03110 Chaperones and folding catalysts [BR:
hsa03110
]
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Glyco_hydro_20
Glycohydro_20b2
Glyco_hydro_20b
Motif
Other DBs
NCBI-GeneID:
3073
NCBI-ProteinID:
NP_000511
OMIM:
606869
HGNC:
4878
Ensembl:
ENSG00000213614
UniProt:
P06865
A0A0S2Z3W3
Structure
PDB
LinkDB
All DBs
Position
15:complement(72340924..72376014)
Genome browser
AA seq
529 aa
AA seq
DB search
MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSV
LDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTI
NDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHY
LPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVK
EVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEF
MSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLL
DIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPW
YLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAV
AERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT
NT seq
1590 nt
NT seq
+upstream
nt +downstream
nt
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
Homo sapiens (human): 3074
Help
Entry
3074 CDS
T01001
Symbol
HEXB, ENC-1AS, HEL-248, HEL-S-111
Name
(RefSeq) hexosaminidase subunit beta
KO
K12373
hexosaminidase [EC:
3.2.1.52
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00511
Other glycan degradation
hsa00513
Various types of N-glycan biosynthesis
hsa00520
Amino sugar and nucleotide sugar metabolism
hsa00531
Glycosaminoglycan degradation
hsa00600
Sphingolipid metabolism
hsa00603
Glycosphingolipid biosynthesis - globo and isoglobo series
hsa00604
Glycosphingolipid biosynthesis - ganglio series
hsa01100
Metabolic pathways
hsa04142
Lysosome
Module
hsa_M00079
Keratan sulfate degradation
Network
nt06012
Glycosaminoglycan degradation
nt06014
Sphingolipid degradation
Element
N00623
Keratan sulfate degradation
N01709
Hydrolysis of globoside
N01710
Hydrolysis of ganglioside
N01711
Hydrolysis of GA1
N01713
GM2A activation of HEXA and HEXB
N01714
Loss of GM2A activation
Disease
H00124
GM2 gangliosidoses
H00426
Gangliosidosis
H02017
Sandhoff disease
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09101 Carbohydrate metabolism
00520 Amino sugar and nucleotide sugar metabolism
3074 (HEXB)
09103 Lipid metabolism
00600 Sphingolipid metabolism
3074 (HEXB)
09107 Glycan biosynthesis and metabolism
00513 Various types of N-glycan biosynthesis
3074 (HEXB)
00531 Glycosaminoglycan degradation
3074 (HEXB)
00603 Glycosphingolipid biosynthesis - globo and isoglobo series
3074 (HEXB)
00604 Glycosphingolipid biosynthesis - ganglio series
3074 (HEXB)
00511 Other glycan degradation
3074 (HEXB)
09140 Cellular Processes
09141 Transport and catabolism
04142 Lysosome
3074 (HEXB)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03110 Chaperones and folding catalysts [BR:
hsa03110
]
3074 (HEXB)
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
3074 (HEXB)
Chaperones and folding catalysts [BR:
hsa03110
]
Intramolecular chaperones
Others
3074 (HEXB)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Glyco_hydro_20
Glycohydro_20b2
Glyco_hydro_20b
Motif
Other DBs
NCBI-GeneID:
3074
NCBI-ProteinID:
NP_000512
OMIM:
606873
HGNC:
4879
Ensembl:
ENSG00000049860
UniProt:
P07686
A0A024RAJ6
Structure
PDB
LinkDB
All DBs
Position
5:74640023..74721288
Genome browser
AA seq
556 aa
AA seq
DB search
MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLP
LLVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQA
KTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVY
QDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIVD
DQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGK
GQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKC
WESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTI
VEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQL
FIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERG
IAAQPLYAGYCNHENM
NT seq
1671 nt
NT seq
+upstream
nt +downstream
nt
atggagctgtgcgggctggggctgccccggccgcccatgctgctggcgctgctgttggcg
acactgctggcggcgatgttggcgctgctgactcaggtggcgctggtggtgcaggtggcg
gaggcggctcgggccccgagcgtctcggccaagccggggccggcgctgtggcccctgccg
ctcttggtgaagatgaccccgaacctgctgcatctcgccccggagaacttctacatcagc
cacagccccaattccacggcgggcccctcctgcaccctgctggaggaagcgtttcgacga
tatcatggctatatttttggtttctacaagtggcatcatgaacctgctgaattccaggct
aaaacccaggttcagcaacttcttgtctcaatcacccttcagtcagagtgtgatgctttc
cccaacatatcttcagatgagtcttatactttacttgtgaaagaaccagtggctgtcctt
aaggccaacagagtttggggagcattacgaggtttagagacctttagccagttagtttat
caagattcttatggaactttcaccatcaatgaatccaccattattgattctccaaggttt
tctcacagaggaattttgattgatacatccagacattatctgccagttaagattattctt
aaaactctggatgccatggcttttaataagtttaatgttcttcactggcacatagttgat
gaccagtctttcccatatcagagcatcacttttcctgagttaagcaataaaggaagctat
tctttgtctcatgtttatacaccaaatgatgtccgtatggtgattgaatatgccagatta
cgaggaattcgagtcctgccagaatttgatacccctgggcatacactatcttggggaaaa
ggtcagaaagacctcctgactccatgttacagtagacaaaacaagttggactcttttgga
cctataaaccctactctgaatacaacatacagcttccttactacatttttcaaagaaatt
agtgaggtgtttccagatcaattcattcatttgggaggagatgaagtggaatttaaatgt
tgggaatcaaatccaaaaattcaagatttcatgaggcaaaaaggctttggcacagatttt
aagaaactagaatctttctacattcaaaaggttttggatattattgcaaccataaacaag
ggatccattgtctggcaggaggtttttgatgataaagcaaagcttgcgccgggcacaata
gttgaagtatggaaagacagcgcatatcctgaggaactcagtagagtcacagcatctggc
ttccctgtaatcctttctgctccttggtacttagatttgattagctatggacaagattgg
aggaaatactataaagtggaacctcttgattttggcggtactcagaaacagaaacaactt
ttcattggtggagaagcttgtctatggggagaatatgtggatgcaactaacctcactcca
agattatggcctcgggcaagtgctgttggtgagagactctggagttccaaagatgtcaga
gatatggatgacgcctatgacagactgacaaggcaccgctgcaggatggtcgaacgtgga
atagctgcacaacctctttatgctggatattgtaaccatgagaacatgtaa
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integrated database retrieval system
