KEGG H.sapiens: 3074

Homo sapiens (human): 3074

Entry

3074 CDS H.sapiens

Gene name HEXB

Definition hexosaminidase B (beta 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]

SSDB

Motif Pfam: Glyco_hydro_20 Glyco_hydro_20b

Other DBs NCBI-GI: 4504373
NCBI-GeneID: 3074
OMIM: 606873
HGNC: 4879
HPRD: 06043
Ensembl: ENSG00000049860
UniProt: P07686

Structure

PDB: 1NOW 1O7A 1NOU 1NP0 2GJX 2GK1

Position 5q13

AA seq 556 aa
MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLP
LSVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQA
KTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVY
QDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIVD
DQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGK
GQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKC
WESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTI
VEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQL
FIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERG
IAAQPLYAGYCNHENM

NT seq 1671 nt +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

All links

Pathway (7)   
   KEGG PATHWAY (7)   
Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (4)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (3)   
   UniProt (1)   
   RefSeq(pep) (1)   
   IPI (1)   
DNA sequence (11)   
   RefSeq(nuc) (1)   
   GenBank (5)   
   EMBL (5)   
3D Structure (6)   
   PDB (6)   
Protein domain (2)   
   Pfam (2)   
All databases (43)

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