KEGG   Homo sapiens (human): 3073
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
H00423  Sphingolipidosis
H00426  Gangliosidosis
H02016  Tay-Sachs disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    3073 (HEXA)
  09107 Glycan biosynthesis and metabolism
   00520 Amino sugar and nucleotide sugar metabolism
    3073 (HEXA)
   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)
SSDB
Motif
Pfam: Glyco_hydro_20 Glycohydro_20b2 Glyco_hydro_20b
Other DBs
NCBI-GeneID: 3073
NCBI-ProteinID: NP_000511
OMIM: 606869
HGNC: 4878
Ensembl: ENSG00000213614
UniProt: P06865 A0A0S2Z3W3
Structure
Position
15:complement(72340924..72376014)
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

  All links  
Disease (2)   
   OMIM (2)   
Gene (32)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (21)   
   OC (1)   
Protein sequence (5)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (61)   
   RefSeq(nuc) (3)   
   GenBank (29)   
   EMBL (29)   
3D Structure (2)   
   PDB (2)   
Protein domain (3)   
   Pfam (3)   
All databases (105)   

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