MGP Database

MGP001432

Record overview

MGPD ID	MGP001432
Gene ID	3074
Species	Homo sapiens (Human)
Gene Name	hexosaminidase B (beta polypeptide)
Gene Symbol	HEXB
Synonyms	ENC-1AS; HEL-248;
Alternate names	beta-hexosaminidase subunit beta; HCC-7; N-acetyl-beta-glucosaminidase subunit beta; beta-N-acetylhexosaminidase subunit beta; cervical cancer proto-oncogene 7 protein; epididymis luminal protein 248; hexosaminidase subunit B;
Chromosome	5
Map Location	5q13
EC Number	3.2.1.52
Summary	Hexosaminidase 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]
Orthologs	View 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:

MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLPLSVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRR
YHGYIFGFYKWHHEPAEFQAKTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVYQDSYGTFTINESTIIDSPRF
SHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIVDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGK
GQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINK
GSIVWQEVFDDKAKLAPGTIVEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQLFIGGEACLWGEYVDATNLTP
RLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERGIAAQPLYAGYCNHENM

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

beta-hexosaminidase subunit beta isoform 2

Refseq ID:	NP_001278933
Protein GI:	635172849
UniProt ID:	P07686
mRNA ID:	NM_001292004
Length:	331
RefSeq Status:

`MAFNKFNVLHWHIVDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGKGQKDLLTPCYSRQNKLDSFGPINPT LNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTIVEVWK DSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQLFIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDA YDRLTRHRCRMVERGIAAQPLYAGYCNHENM`