KEGG   Homo sapiens (human): 3074
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
H00423  Sphingolipidosis
H00426  Gangliosidosis
H02017  Sandhoff disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    3074 (HEXB)
  09107 Glycan biosynthesis and metabolism
   00520 Amino sugar and nucleotide sugar metabolism
    3074 (HEXB)
   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)
SSDB
Motif
Pfam: Glyco_hydro_20 Glycohydro_20b2 Glyco_hydro_20b
Other DBs
NCBI-GeneID: 3074
NCBI-ProteinID: NP_000512
OMIM: 606873
HGNC: 4879
Ensembl: ENSG00000049860
UniProt: P07686 A0A024RAJ6
Structure
Position
5:74640023..74721288
AA seq 556 aa
MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLP
LLVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQA
KTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVY
QDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIVD
DQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGK
GQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKC
WESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTI
VEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQL
FIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERG
IAAQPLYAGYCNHENM
NT seq 1671 nt   +upstreamnt  +downstreamnt
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

  All links  
Disease (2)   
   OMIM (2)   
Gene (31)   
   RefGene (14)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (12)   
   OC (1)   
Protein sequence (5)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (36)   
   RefSeq(nuc) (2)   
   GenBank (17)   
   EMBL (17)   
3D Structure (8)   
   PDB (8)   
Protein domain (3)   
   Pfam (3)   
All databases (85)   

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