LMPD Database

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LMP000083

Record overview

LMPD IDLMP000083
Gene ID3074
SpeciesHomo sapiens (Human)
Gene Namehexosaminidase B (beta polypeptide)
Gene SymbolHEXB
SynonymsENC-1AS; HEL-248
Chromosome5
Map Location5q13
EC Number3.2.1.52
SummaryHexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
OrthologsView orthologs and multiple alignments for HEXB

Proteins

beta-hexosaminidase subunit beta isoform 1 preproprotein
Refseq ID:NP_000512
Protein GI:4504373
UniProt ID:P07686
mRNA ID:NM_000521
Length:556
RefSeq Status:REVIEWED
MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLPLSVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRR
YHGYIFGFYKWHHEPAEFQAKTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVYQDSYGTFTINESTIIDSPRF
SHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIVDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGK
GQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINK
GSIVWQEVFDDKAKLAPGTIVEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQLFIGGEACLWGEYVDATNLTP
RLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERGIAAQPLYAGYCNHENM
 
beta-hexosaminidase subunit beta isoform 2
Refseq ID:NP_001278933
Protein GI:635172849
UniProt ID:P07686
mRNA ID:NM_001292004
Length:331
RefSeq Status:REVIEWED
MAFNKFNVLHWHIVDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGKGQKDLLTPCYSRQNKLDSFGPINPT
LNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTIVEVWK
DSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQLFIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDA
YDRLTRHRCRMVERGIAAQPLYAGYCNHENM
 
sig_peptide: 1..42
inference: non-experimental evidence, no additional details recorded
note: Potential; propagated from UniProtKB/Swiss-Prot (P07686.3)
calculated_mol_wt: 4343
peptide sequence: 
MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEA

mat_peptide: 122..556
product: Beta-hexosaminidase subunit beta
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P07686.3)
calculated_mol_wt: 49927
peptide sequence: 
TQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVYQDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILK
TLDAMAFNKFNVLHWHIVDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGKGQKDLLTPCYSRQNKLDSFGP
INPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTIV
EVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQLFIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRD
MDDAYDRLTRHRCRMVERGIAAQPLYAGYCNHENM

mat_peptide: 122..311
product: Beta-hexosaminidase subunit beta chain B
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P07686.3)
calculated_mol_wt: 21631
peptide sequence: 
TQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVYQDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILK
TLDAMAFNKFNVLHWHIVDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGKGQKDLLTPCYS

mat_peptide: 315..556
product: Beta-hexosaminidase subunit beta chain A
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P07686.3)
calculated_mol_wt: 27916
peptide sequence: 
KLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAK
LAPGTIVEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQLFIGGEACLWGEYVDATNLTPRLWPRASAVGERLW
SSKDVRDMDDAYDRLTRHRCRMVERGIAAQPLYAGYCNHENM