Gene/Proteome Database (LMPD)
LMPD ID
LMP006644
Gene ID
Species
Homo sapiens (Human)
Gene Name
galactosidase, beta 1
Gene Symbol
Synonyms
EBP; ELNR1; MPS4B
Alternate Names
beta-galactosidase; lactase; acid beta-galactosidase; elastin receptor 1, 67kDa
Chromosome
3
Map Location
3p21.33
EC Number
3.2.1.23
Summary
This gene encodes beta-galactosidase-1, a lysosomal enzyme that hydrolyzes the terminal beta-galactose from ganglioside substrates and other glycoconjugates. Defects in this gene are the cause of GM1-gangliosidosis and Morquio B syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Orthologs
Proteins
| beta-galactosidase isoform a preproprotein | |
|---|---|
| Refseq ID | NP_000395 |
| Protein GI | 119372308 |
| UniProt ID | P16278 |
| mRNA ID | NM_000404 |
| Length | 677 |
| RefSeq Status | REVIEWED |
| MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKDGQPFRYISGSIHYSRVPRFYWKDRLLKMKMAGLNAIQTYVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVILRPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPVITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHKTFLKCGALQGLYTTVDFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQPHSTIKTEAVASSLYDILARGASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEAGDLTEKYFALRNIIQKFEKVPEGPIPPSTPKFAYGKVTLEKLKTVGAALDILCPSGPIKSLYPLTFIQVKQHYGFVLYRTTLPQDCSNPAPLSSPLNGVHDRAYVAVDGIPQGVLERNNVITLNITGKAGATLDLLVENMGRVNYGAYINDFKGLVSNLTLSSNILTDWTIFPLDTEDAVRSHLGGWGHRDSGHHDEAWAHNSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQLTLFVPQHILMTSAPNTITVLELEWAPCSSDDPELCAVTFVDRPVIGSSVTYDHPSKPVEKRLMPPPPQKNKDSWLDHV | |
| beta-galactosidase isoform b | |
|---|---|
| Refseq ID | NP_001073279 |
| Protein GI | 119372308 |
| UniProt ID | P16278 |
| mRNA ID | NM_001079811 |
| Length | 677 |
| RefSeq Status | REVIEWED |
| MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKDGQPFRYISGSIHYSRVPRFYWKDRLLKMKMAGLNAIQTYVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVILRPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPVITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHKTFLKCGALQGLYTTVDFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQPHSTIKTEAVASSLYDILARGASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEAGDLTEKYFALRNIIQKFEKVPEGPIPPSTPKFAYGKVTLEKLKTVGAALDILCPSGPIKSLYPLTFIQVKQHYGFVLYRTTLPQDCSNPAPLSSPLNGVHDRAYVAVDGIPQGVLERNNVITLNITGKAGATLDLLVENMGRVNYGAYINDFKGLVSNLTLSSNILTDWTIFPLDTEDAVRSHLGGWGHRDSGHHDEAWAHNSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQLTLFVPQHILMTSAPNTITVLELEWAPCSSDDPELCAVTFVDRPVIGSSVTYDHPSKPVEKRLMPPPPQKNKDSWLDHV | |
| beta-galactosidase isoform c preproprotein | |
|---|---|
| Refseq ID | NP_001129074 |
| Protein GI | 208022658 |
| UniProt ID | P16278 |
| mRNA ID | NM_001135602 |
| Length | 546 |
| RefSeq Status | REVIEWED |
| MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKDGQPFRYISGSIHYSRVPRFYWKDRLLKMKMAGLNAIQTLPGSCGQVVGSPSAQDEASPLSEWRASYNSAGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQPHSTIKTEAVASSLYDILARGASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEAGDLTEKYFALRNIIQKFEKVPEGPIPPSTPKFAYGKVTLEKLKTVGAALDILCPSGPIKSLYPLTFIQVKQHYGFVLYRTTLPQDCSNPAPLSSPLNGVHDRAYVAVDGIPQGVLERNNVITLNITGKAGATLDLLVENMGRVNYGAYINDFKGLVSNLTLSSNILTDWTIFPLDTEDAVRSHLGGWGHRDSGHHDEAWAHNSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQLTLFVPQHILMTSAPNTITVLELEWAPCSSDDPELCAVTFVDRPVIGSSVTYDHPSKPVEKRLMPPPPQKNKDSWLDHV | |
| sig_peptide: 1..23 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2502 peptide sequence: MPGFLVRILPLLLVLLLLGPTRG sig_peptide: 1..23 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2502 peptide sequence: MPGFLVRILPLLLVLLLLGPTRG mat_peptide: 29..546 product: beta-galactosidase isoform c calculated_mol_wt: 57496 peptide sequence: QRMFEIDYSRDSFLKDGQPFRYISGSIHYSRVPRFYWKDRLLKMKMAGLNAIQTLPGSCGQVVGSPSAQDEASPLSEWRASYNSAGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQPHSTIKTEAVASSLYDILARGASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEAGDLTEKYFALRNIIQKFEKVPEGPIPPSTPKFAYGKVTLEKLKTVGAALDILCPSGPIKSLYPLTFIQVKQHYGFVLYRTTLPQDCSNPAPLSSPLNGVHDRAYVAVDGIPQGVLERNNVITLNITGKAGATLDLLVENMGRVNYGAYINDFKGLVSNLTLSSNILTDWTIFPLDTEDAVRSHLGGWGHRDSGHHDEAWAHNSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQLTLFVPQHILMTSAPNTITVLELEWAPCSSDDPELCAVTFVDRPVIGSSVTYDHPSKPVEKRLMPPPPQKNKDSWLDHV | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005794 | IDA:HPA | C | Golgi apparatus |
| GO:0005737 | IDA:HPA | C | cytoplasm |
| GO:0070062 | IDA:UniProtKB | C | extracellular vesicular exosome |
| GO:0043202 | TAS:Reactome | C | lysosomal lumen |
| GO:0004565 | TAS:UniProtKB | F | beta-galactosidase activity |
| GO:0016936 | IEA:Ensembl | F | galactoside binding |
| GO:0005975 | TAS:Reactome | P | carbohydrate metabolic process |
| GO:0019388 | IEA:Ensembl | P | galactose catabolic process |
| GO:0006027 | TAS:Reactome | P | glycosaminoglycan catabolic process |
| GO:0030203 | TAS:Reactome | P | glycosaminoglycan metabolic process |
| GO:0006687 | TAS:Reactome | P | glycosphingolipid metabolic process |
| GO:0042340 | TAS:Reactome | P | keratan sulfate catabolic process |
| GO:0042339 | TAS:Reactome | P | keratan sulfate metabolic process |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0006665 | TAS:Reactome | P | sphingolipid metabolic process |
KEGG Pathway Links
| KEGG Pathway ID | Description |
|---|---|
| hsa04142 | Lysosome |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_120752 | HS-GAG degradation |
| REACT_121313 | Keratan sulfate degradation |
| REACT_200874 | Sialic acid metabolism |
Domain Information
InterPro Annotations
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P16278-1; Sequence=Displayed; Name=2; Synonyms=Beta-galactosidase-related protein, Beta-galactosidase-like protein, S-Gal, Elastin-binding protein, EBP; IsoId=P16278-2, P16279-1; Sequence=VSP_031241; Name=3; IsoId=P16278-3; Sequence=VSP_039974; Note=No experimental confirmation available.; |
| Catalytic Activity | Hydrolysis of terminal non-reducing beta-D- galactose residues in beta-D-galactosides. |
| Disease | GM1-gangliosidosis 1 (GM1G1) [MIM |
| Disease | GM1-gangliosidosis 2 (GM1G2) [MIM |
| Disease | GM1-gangliosidosis 3 (GM1G3) [MIM |
| Disease | Mucopolysaccharidosis 4B (MPS4B) [MIM |
| Function | Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. |
| Function | Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers. |
| Interaction | Q9NSA3:CTNNBIP1; NbExp=1; IntAct=EBI-989638, EBI-747082; Q99519:NEU1; NbExp=1; IntAct=EBI-989638, EBI-721517; |
| Similarity | Belongs to the glycosyl hydrolase 35 family. |
| Subcellular Location | Isoform 1: Lysosome. |
| Subcellular Location | Isoform 2: Cytoplasm, perinuclear region. Note=Localized to the perinuclear area of the cytoplasm but not to lysosomes. |
| Web Resource | Name=Wikipedia; Note=Beta-galactosidase entry; URL="http://en.wikipedia.org/wiki/Beta-galactosidase"; |
Identical and Related Proteins
Unique RefSeq proteins for LMP006644 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 119372308 | RefSeq | NP_000395 | 677 | beta-galactosidase isoform a preproprotein |
| 119372308 | RefSeq | NP_001073279 | 677 | beta-galactosidase isoform b |
| 208022658 | RefSeq | NP_001129074 | 546 | beta-galactosidase isoform c preproprotein |
Identical Sequences to LMP006644 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:119372308 | GenBank | EAW64443.1 | 677 | galactosidase, beta 1, isoform CRA_b [Homo sapiens] |
| GI:119372308 | GenBank | EAW64443.1 | 677 | galactosidase, beta 1, isoform CRA_b [Homo sapiens] |
| GI:208022658 | GenBank | EAW64444.1 | 546 | galactosidase, beta 1, isoform CRA_c [Homo sapiens] |
| GI:208022658 | GenBank | ADT49921.1 | 546 | Sequence 1938 from patent US 7842467 |
| GI:119372308 | GenBank | ADT49923.1 | 677 | Sequence 1940 from patent US 7842467 |
| GI:119372308 | GenBank | ADT49923.1 | 677 | Sequence 1940 from patent US 7842467 |
| GI:119372308 | SwissProt | P16278.2 | 677 | RecName: Full=Beta-galactosidase; AltName: Full=Acid beta-galactosidase; Short=Lactase; AltName: Full=Elastin receptor 1; Flags: Precursor [Homo sapiens] |
| GI:119372308 | SwissProt | P16278.2 | 677 | RecName: Full=Beta-galactosidase; AltName: Full=Acid beta-galactosidase; Short=Lactase; AltName: Full=Elastin receptor 1; Flags: Precursor [Homo sapiens] |
Related Sequences to LMP006644 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:119372308 | DBBJ | BAD96483.1 | 677 | galactosidase, beta 1 variant, partial [Homo sapiens] |
| GI:119372308 | DBBJ | BAD96483.1 | 677 | galactosidase, beta 1 variant, partial [Homo sapiens] |
| GI:119372308 | DBBJ | BAD96811.1 | 677 | galactosidase, beta 1 variant, partial [Homo sapiens] |
| GI:119372308 | DBBJ | BAD96811.1 | 677 | galactosidase, beta 1 variant, partial [Homo sapiens] |
| GI:208022658 | DBBJ | BAH12915.1 | 546 | unnamed protein product [Homo sapiens] |
| GI:208022658 | EMBL | CBA12839.1 | 546 | unnamed protein product [Homo sapiens] |
| GI:119372308 | GenBank | AAA51822.1 | 677 | beta-galactosidase precursor (EC 3.2.1.23) [Homo sapiens] |
| GI:119372308 | GenBank | AAA51822.1 | 677 | beta-galactosidase precursor (EC 3.2.1.23) [Homo sapiens] |
| GI:208022658 | GenBank | AAA35599.1 | 546 | beta-galactosidase related protein precursor [Homo sapiens] |
| GI:119372308 | GenBank | ADT49919.1 | 677 | Sequence 1936 from patent US 7842467 |
| GI:119372308 | GenBank | ADT49919.1 | 677 | Sequence 1936 from patent US 7842467 |
| GI:208022658 | GenBank | ADT49922.1 | 546 | Sequence 1939 from patent US 7842467 |
| GI:119372308 | GenBank | AEF64138.1 | 677 | Sequence 133 from patent US 7932032 |
| GI:119372308 | GenBank | AEF64138.1 | 677 | Sequence 133 from patent US 7932032 |
| GI:119372308 | GenBank | AIC54459.1 | 677 | GLB1, partial [synthetic construct] |
| GI:119372308 | GenBank | AIC54459.1 | 677 | GLB1, partial [synthetic construct] |
| GI:208022658 | RefSeq | XP_004033859.1 | 546 | PREDICTED: beta-galactosidase isoform 2 [Gorilla gorilla gorilla] |
| GI:208022658 | RefSeq | XP_009237513.1 | 546 | PREDICTED: beta-galactosidase isoform X3 [Pongo abelii] |