LMPD Database

LMP000782

Record overview

LMPD ID	LMP000782
Gene ID	12091
Species	Mus musculus(Mouse)
Gene Name	galactosidase, beta 1
Gene Symbol	Glb1
Synonyms	AW125515; Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt; C130097A14Rik
Alternate names	beta-galactosidase; lactase; acid beta-galactosidase
Chromosome	9
Map Location	9 F3\|9 64.4 cM
EC Number	3.2.1.23
Summary	This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a lysosomal enzyme that catalyzes the hydrolysis of terminal beta-D-galactose residues in various substrates like lactose, ganglioside GM1 and other glycoproteins. Mutations in the human gene are associated with GM1-gangliosidosis and Morquio B syndrome. Disruption of the mouse gene mirrors the symptoms of human gangliosidosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Orthologs	View orthologs and multiple alignments for Glb1

Proteins

beta-galactosidase preproprotein

Refseq ID:	NP_033882
Protein GI:	6753190
UniProt ID:	P23780
mRNA ID:	NM_009752
Length:	647
RefSeq Status:	REVIEWED

MLRVPLCTPLPLLALLQLLGAAHGIYNVTQRTFKLDYSRDRFLKDGQPFRYISGSIHYFRIPRFYWEDRLLKMKMAGLNAIQMYVPWNFHEPQPGQYEFS
GDRDVEHFIQLAHELGLLVILRPGPYICAEWDMGGLPAWLLEKQSIVLRSSDPDYLVAVDKWLAVLLPKMKPLLYQNGGPIITVQVENEYGSYFACDYDY
LRFLVHRFRYHLGNDVILFTTDGASEKMLKCGTLQDLYATVDFGTGNNITQAFLVQRKFEPKGPLINSEFYTGWLDHWGKPHSTVKTKTLATSLYNLLAR
GANVNLYMFIGGTNFAYWNGANTPYEPQPTSYDYDAPLSEAGDLTKKYFALREVIQMFKEVPEGPIPPSTPKFAYGKVALRKFKTVAEALGILCPNGPVK
SLYPLTFTQVKQYFGYVLYRTTLPQDCSNPKPIFSSPFNGVRDRAYVSVDGVPQGILDRNLMTALNIRGKAGATLDILVENMGRVNYGRFINDFKGLISN
MTINSTVLTNWTVFPLNTEAMVRNHLWGREASDEGHLDGRSTSNSSDLILPTFYVGNFSIPSGIPDLPQDTFIQFPGWSKGQVWINGFNLGRYWPTMGPQ
KTLFVPRNILTTSAPNNITVLELEFAPCSEGTPELCTVEFVDTPVIS

sig_peptide: 1..24
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2511
peptide sequence: 
MLRVPLCTPLPLLALLQLLGAAHG

mat_peptide: 30..647
product: Beta-galactosidase
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P23780.1)
calculated_mol_wt: 70038
peptide sequence: 
QRTFKLDYSRDRFLKDGQPFRYISGSIHYFRIPRFYWEDRLLKMKMAGLNAIQMYVPWNFHEPQPGQYEFSGDRDVEHFIQLAHELGLLVILRPGPYICA
EWDMGGLPAWLLEKQSIVLRSSDPDYLVAVDKWLAVLLPKMKPLLYQNGGPIITVQVENEYGSYFACDYDYLRFLVHRFRYHLGNDVILFTTDGASEKML
KCGTLQDLYATVDFGTGNNITQAFLVQRKFEPKGPLINSEFYTGWLDHWGKPHSTVKTKTLATSLYNLLARGANVNLYMFIGGTNFAYWNGANTPYEPQP
TSYDYDAPLSEAGDLTKKYFALREVIQMFKEVPEGPIPPSTPKFAYGKVALRKFKTVAEALGILCPNGPVKSLYPLTFTQVKQYFGYVLYRTTLPQDCSN
PKPIFSSPFNGVRDRAYVSVDGVPQGILDRNLMTALNIRGKAGATLDILVENMGRVNYGRFINDFKGLISNMTINSTVLTNWTVFPLNTEAMVRNHLWGR
EASDEGHLDGRSTSNSSDLILPTFYVGNFSIPSGIPDLPQDTFIQFPGWSKGQVWINGFNLGRYWPTMGPQKTLFVPRNILTTSAPNNITVLELEFAPCS
EGTPELCTVEFVDTPVIS