KEGG   Homo sapiens (human): 3074Help
Entry
3074              CDS       T01001                                 

Gene name
HEXB, ENC-1AS, HEL-248, HEL-S-111
Definition
(RefSeq) hexosaminidase subunit beta
  KO
K12373  hexosaminidase [EC:3.2.1.52]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00511  Other glycan degradation
hsa00520  Amino sugar and nucleotide sugar metabolism
hsa00531  Glycosaminoglycan degradation
hsa00603  Glycosphingolipid biosynthesis - globo and isoglobo series
hsa00604  Glycosphingolipid biosynthesis - ganglio series
hsa01100  Metabolic pathways
hsa04142  Lysosome
Module
hsa_M00079  Keratan sulfate degradation
Disease
H00124  GM2 gangliosidoses
H00426  Defects in the degradation of ganglioside
H02017  Sandhoff disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Carbohydrate metabolism
   00520 Amino sugar and nucleotide sugar metabolism
    3074 (HEXB)
  Glycan biosynthesis and metabolism
   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)
 Cellular Processes
  Transport and catabolism
   04142 Lysosome
    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 OrthologParalogGFIT
Motif
Pfam: Glyco_hydro_20 Glycohydro_20b2 Glyco_hydro_20b Glyco_transf_7C
Motif
Other DBs
NCBI-GeneID: 3074
NCBI-ProteinID: NP_000512
OMIM: 606873
HGNC: 4879
Ensembl: ENSG00000049860
Vega: OTTHUMG00000102057
Pharos: P07686(Tchem)
UniProt: P07686 A0A024RAJ6
Structure
PDB: 

Jmol
Position
5q13.3
AA seq 556 aa AA seqDB search
MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLP
LSVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQA
KTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVY
QDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIVD
DQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGK
GQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKC
WESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTI
VEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQL
FIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERG
IAAQPLYAGYCNHENM
NT seq 1671 nt NT seq  +upstreamnt  +downstreamnt
atggagctgtgcgggctggggctgccccggccgcccatgctgctggcgctgctgttggcg
acactgctggcggcgatgttggcgctgctgactcaggtggcgctggtggtgcaggtggcg
gaggcggctcgggccccgagcgtctcggccaagccggggccggcgctgtggcccctgccg
ctctcggtgaagatgaccccgaacctgctgcatctcgccccggagaacttctacatcagc
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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