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Protein

Beta-galactosidase

Gene

GLB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Isoform 1: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.5 Publications
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.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>pH dependencei

Optimum pH is 4.5-5.5.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei83SubstrateCombined sources2 Publications1
Binding sitei129SubstrateCombined sources2 Publications1
Binding sitei187SubstrateCombined sources2 Publications1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei188Proton donor1 Publication1
Active sitei268Nucleophile1 Publication1
Binding sitei333SubstrateCombined sources2 Publications1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • beta-galactosidase activity Source: UniProtKB
  • exo-alpha-sialidase activity Source: Reactome
  • galactoside binding Source: Ensembl
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-2022857 Keratan sulfate degradation
R-HSA-2024096 HS-GAG degradation
R-HSA-2206308 MPS IV - Morquio syndrome B
R-HSA-4085001 Sialic acid metabolism
R-HSA-6798695 Neutrophil degranulation

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
P16278

Protein family/group databases

Carbohydrate-Active enZymes

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CAZyi
GH35 Glycoside Hydrolase Family 35

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Beta-galactosidase (EC:3.2.1.237 Publications)
Alternative name(s):
Acid beta-galactosidase
Short name:
Lactase
Elastin receptor 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GLB1
Synonyms:ELNR1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000170266.15

Human Gene Nomenclature Database

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HGNCi
HGNC:4298 GLB1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
611458 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P16278

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Lysosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

GM1-gangliosidosis 1 (GM1G1)20 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1-gangliosidosis type 1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life.
See also OMIM:230500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00867110P → L in GM1G1. 8 PublicationsCorresponds to variant dbSNP:rs7637099EnsemblClinVar.1
Natural variantiVAR_02612959R → C in GM1G1; loss of galactosidase activity; severe mutation. 3 Publications1
Natural variantiVAR_00867259R → H in GM1G1; with cardiac involvement in some patients; loss of galactosidase activity; severe mutation. 8 Publications1
Natural variantiVAR_008675121R → S in GM1G1. 1 Publication1
Natural variantiVAR_003331123G → R in GM1G1; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_062344132M → T in GM1G1; 4.3% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_037937134G → V in GM1G1. 1 Publication1
Natural variantiVAR_062345136P → S in GM1G1. 1 Publication1
Natural variantiVAR_037938147Missing in GM1G1. 1 Publication1
Natural variantiVAR_013541148R → S in GM1G1. 2 Publications1
Natural variantiVAR_062348151D → V in GM1G1. 1 Publication1
Natural variantiVAR_026131151D → Y in GM1G1; complete lack of protein; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_037940162L → S in GM1G1; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_062349173L → P in GM1G1; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_062350184Q → R in GM1G1; loss of galactosidase activity. 1 Publication1
Natural variantiVAR_062351190G → D in GM1G1; 3.4% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_062353199Y → C in GM1G1. 1 Publication1
Natural variantiVAR_008676208R → C in GM1G1. 4 Publications1
Natural variantiVAR_013544216V → A in GM1G1. 1 Publication1
Natural variantiVAR_074056236L → P in GM1G1; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_026132239T → M in GM1G1; loss of galactosidase activity; severe mutation; causes a rapid degradation of the protein precursor. 2 Publications1
Natural variantiVAR_008677240V → M in GM1G1. 1 Publication1
Natural variantiVAR_062354255Q → H in GM1G1; 2.4% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_038346272G → D in GM1G1. 2 Publications1
Natural variantiVAR_003334316Y → C in GM1G1. 1 Publication1
Natural variantiVAR_062356318N → H in GM1G1; unknown pathological significance. 1 Publication1
Natural variantiVAR_062357329T → I in GM1G1; 5.0% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_074060331Y → C in GM1G1; unknown pathological significance. 1 Publication1
Natural variantiVAR_062358332D → E in GM1G1; 2.3% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_013549332D → N in GM1G1; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_062360346K → N in GM1G1. 2 Publications1
Natural variantiVAR_062361347Y → C in GM1G1. 1 Publication1
Natural variantiVAR_037941377 – 381Missing in GM1G1. 1 Publication5
Natural variantiVAR_062364420T → P in GM1G1; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_062365422L → R in GM1G1. 1 Publication1
Natural variantiVAR_062366441D → N in GM1G1; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_062367442R → Q in GM1G1. 1 Publication1
Natural variantiVAR_008679491D → N in GM1G1. 1 Publication1
Natural variantiVAR_037943491D → Y in GM1G1. 1 Publication1
Natural variantiVAR_013553494G → C in GM1G1. 1 Publication1
Natural variantiVAR_074064514L → P in GM1G1; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_008680521R → C in GM1G1; mild phenotype; unknown pathological significance; reduction of galactosidase activity. 6 PublicationsCorresponds to variant dbSNP:rs4302331EnsemblClinVar.1
Natural variantiVAR_037944549P → L in GM1G1. 1 Publication1
Natural variantiVAR_008682578K → R in GM1G1. 1 Publication1
Natural variantiVAR_037946590R → C in GM1G1; loss of galactosidase activity. 3 Publications1
Natural variantiVAR_008684591Y → C in GM1G1; with cardiac involvement in some patients; loss of galactosidase activity; severe mutation; causes a rapid degradation of the protein precursor. 3 Publications1
Natural variantiVAR_008685591Y → N in GM1G1; with cardiac involvement in some patients; loss of galactosidase activity; severe mutation; causes a rapid degradation of the protein precursor. 3 Publications1
Natural variantiVAR_062370597P → S in GM1G1; 2.1% of wild-type galactosidase activity. 1 Publication1
GM1-gangliosidosis 2 (GM1G2)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA gangliosidosis characterized by onset between ages 1 and 5. The main symptom is locomotor ataxia, ultimately leading to a state of decerebration with epileptic seizures. Patients do not display the skeletal changes associated with the infantile form, but they nonetheless excrete elevated amounts of beta-linked galactose-terminal oligosaccharides. Inheritance is autosomal recessive.
See also OMIM:230600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06234168R → Q in GM1G2; 7.4% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_074055134G → R in GM1G2; unknown pathological significance. 1 Publication1
Natural variantiVAR_074057262G → E in GM1G2; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_062355264L → S in GM1G2. 1 Publication1
Natural variantiVAR_074059314F → L in GM1G2; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_062359333Y → H in GM1G2; 3.0% of wild-type galactosidase activity; the mutant protein is localized in the lysosomal-endosomal compartment. 1 Publication1
Natural variantiVAR_074062414G → V in GM1G2; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_074063493K → N in GM1G2; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_008683590R → H in GM1G2. 1 Publication1
Natural variantiVAR_074065597P → L in GM1G2; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_074066600T → I in GM1G2; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_008686632E → G in GM1G2. 1 Publication1
GM1-gangliosidosis 3 (GM1G3)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA gangliosidosis with a variable phenotype. Patients show mild skeletal abnormalities, dysarthria, gait disturbance, dystonia and visual impairment. Visceromegaly is absent. Intellectual deficit can initially be mild or absent but progresses over time. Inheritance is autosomal recessive.
See also OMIM:230650
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06234049R → H in GM1G3. 1 Publication1
Natural variantiVAR_00333051I → T in GM1G3; no effect on catalytic activity; decreased protein stability. 3 Publications1
Natural variantiVAR_06234273K → E in GM1G3. 1 Publication1
Natural variantiVAR_00867382T → M in GM1G3; mild phenotype. 3 Publications1
Natural variantiVAR_013543214D → Y in GM1G3. 1 Publication1
Natural variantiVAR_013545263P → S in GM1G3. 1 Publication1
Natural variantiVAR_013546266N → S in GM1G3. 1 Publication1
Natural variantiVAR_013547270Y → D in GM1G3; originally classified as Morquio syndrome. 2 Publications1
Natural variantiVAR_074058297L → F in GM1G3; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_062363420T → K in GM1G3; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_003335457R → Q in GM1G3. 1 Publication1
Mucopolysaccharidosis 4B (MPS4B)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life.
See also OMIM:253010
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06234383Y → C in MPS4B; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_00867483Y → H in MPS4B; 2-5% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_062347149S → F in MPS4B; 2.0% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_062352198D → Y in MPS4B; 17.4% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_003333273W → L in MPS4B; decreased galactosidase activity. 4 Publications1
Natural variantiVAR_062362397P → A in MPS4B; 24.0% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_013550408Q → P in MPS4B; 1.1% of wild-type galactosidase activity. 2 Publications1
Natural variantiVAR_062368444Y → C in MPS4B; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_008678482R → C in MPS4B; loss of galactosidase activity. 1 Publication1
Natural variantiVAR_013552484N → K in MPS4B; mild form; fibroblasts from MPS4B compound heterozygotes for K-484 and A-500 have 1.9% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_062369494G → S in MPS4B; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_013554500T → A in MPS4B; mild form; 2.1% of wild-type galactosidase activity. 4 Publications1
Natural variantiVAR_003337509W → C in MPS4B; also in a patient with a slowly progressive form of GM1-gangliosidosis; loss of galactosidase activity. 3 Publications1

Keywords - Diseasei

Disease mutation, Gangliosidosis, Mucopolysaccharidosis

Organism-specific databases

DisGeNET

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DisGeNETi
2720

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
GLB1

MalaCards human disease database

More...
MalaCardsi
GLB1
MIMi230500 phenotype
230600 phenotype
230650 phenotype
253010 phenotype

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79255 GM1 gangliosidosis type 1
79256 GM1 gangliosidosis type 2
79257 GM1 gangliosidosis type 3
309310 Mucopolysaccharidosis type 4B

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28709

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2522

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
GLB1

Domain mapping of disease mutations (DMDM)

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DMDMi
215273939

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Add BLAST23
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000001218524 – 281 Publication5
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001218629 – 677Beta-galactosidaseAdd BLAST649

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi26N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi195 ↔ 230Combined sources2 Publications
Glycosylationi247N-linked (GlcNAc...) asparagineCombined sources2 Publications1
Glycosylationi464N-linked (GlcNAc...) asparagineCombined sources4 Publications1
Glycosylationi498N-linked (GlcNAc...) asparagineCombined sources2 Publications1
Glycosylationi542N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi545N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi555N-linked (GlcNAc...) asparagineCombined sources3 Publications1
Disulfide bondi626 ↔ 634Combined sources2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P16278

MaxQB - The MaxQuant DataBase

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MaxQBi
P16278

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P16278

PeptideAtlas

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PeptideAtlasi
P16278

PRoteomics IDEntifications database

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PRIDEi
P16278

ProteomicsDB human proteome resource

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ProteomicsDBi
53332
53333 [P16278-2]
53334 [P16278-3]

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1036

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P16278

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P16278

SwissPalm database of S-palmitoylation events

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SwissPalmi
P16278

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in placenta (at protein level) (PubMed:8383699). Detected in fibroblasts and testis (PubMed:2511208).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000170266 Expressed in 210 organ(s), highest expression level in adrenal tissue

CleanEx database of gene expression profiles

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CleanExi
HS_GLB1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P16278 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P16278 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB008382
HPA040610
HPA069503

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (PubMed:22128166). May form higher multimers (Probable).1 Publication1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108984, 49 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P16278

Protein interaction database and analysis system

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IntActi
P16278, 21 interactors

Molecular INTeraction database

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MINTi
P16278

STRING: functional protein association networks

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STRINGi
9606.ENSP00000306920

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P16278

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1677
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P16278

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P16278

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the glycosyl hydrolase 35 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0496 Eukaryota
COG1874 LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000221607

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG004841

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P16278

KEGG Orthology (KO)

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KOi
K12309

Database of Orthologous Groups

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OrthoDBi
EOG091G006X

Database for complete collections of gene phylogenies

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PhylomeDBi
P16278

TreeFam database of animal gene trees

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TreeFami
TF314816

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.120.260, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026283 B-gal_1-like
IPR025300 BetaGal_jelly_roll_dom
IPR008979 Galactose-bd-like_sf
IPR031330 Gly_Hdrlase_35_cat
IPR019801 Glyco_hydro_35_CS
IPR001944 Glycoside_Hdrlase_35
IPR017853 Glycoside_hydrolase_SF

The PANTHER Classification System

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PANTHERi
PTHR23421 PTHR23421, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF13364 BetaGal_dom4_5, 1 hit
PF01301 Glyco_hydro_35, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF006336 B-gal, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00742 GLHYDRLASE35

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49785 SSF49785, 1 hit
SSF51445 SSF51445, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS01182 GLYCOSYL_HYDROL_F35, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P16278-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPGFLVRILP LLLVLLLLGP TRGLRNATQR MFEIDYSRDS FLKDGQPFRY
60 70 80 90 100
ISGSIHYSRV PRFYWKDRLL KMKMAGLNAI QTYVPWNFHE PWPGQYQFSE
110 120 130 140 150
DHDVEYFLRL AHELGLLVIL RPGPYICAEW EMGGLPAWLL EKESILLRSS
160 170 180 190 200
DPDYLAAVDK WLGVLLPKMK PLLYQNGGPV ITVQVENEYG SYFACDFDYL
210 220 230 240 250
RFLQKRFRHH LGDDVVLFTT DGAHKTFLKC GALQGLYTTV DFGTGSNITD
260 270 280 290 300
AFLSQRKCEP KGPLINSEFY TGWLDHWGQP HSTIKTEAVA SSLYDILARG
310 320 330 340 350
ASVNLYMFIG GTNFAYWNGA NSPYAAQPTS YDYDAPLSEA GDLTEKYFAL
360 370 380 390 400
RNIIQKFEKV PEGPIPPSTP KFAYGKVTLE KLKTVGAALD ILCPSGPIKS
410 420 430 440 450
LYPLTFIQVK QHYGFVLYRT TLPQDCSNPA PLSSPLNGVH DRAYVAVDGI
460 470 480 490 500
PQGVLERNNV ITLNITGKAG ATLDLLVENM GRVNYGAYIN DFKGLVSNLT
510 520 530 540 550
LSSNILTDWT IFPLDTEDAV RSHLGGWGHR DSGHHDEAWA HNSSNYTLPA
560 570 580 590 600
FYMGNFSIPS GIPDLPQDTF IQFPGWTKGQ VWINGFNLGR YWPARGPQLT
610 620 630 640 650
LFVPQHILMT SAPNTITVLE LEWAPCSSDD PELCAVTFVD RPVIGSSVTY
660 670
DHPSKPVEKR LMPPPPQKNK DSWLDHV
Length:677
Mass (Da):76,075
Last modified:November 25, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i74421586B1BCFECA
GO
Isoform 2 (identifier: P16278-2) [UniParc] [UniParc]FASTAAdd to basket
Also known as: Beta-galactosidase-related protein1 Publication, Beta-galactosidase-like protein, S-Gal1 Publication, Elastin-binding protein, EBP1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     83-244: YVPWNFHEPW...GLYTTVDFGT → LPGSCGQVVGSPSAQDEASPLSEWRASYNSA

Show »
Length:546
Mass (Da):60,536
Checksum:i2EC2BBA4F39E966C
GO
Isoform 3 (identifier: P16278-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: Missing.

Note: No experimental confirmation available.
Show »
Length:647
Mass (Da):72,751
Checksum:i1D57AD9A29CF9DA6
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EQ29E7EQ29_HUMAN
Beta-galactosidase
GLB1
546Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J4G9C9J4G9_HUMAN
Beta-galactosidase
GLB1
185Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JWX1C9JWX1_HUMAN
Beta-galactosidase
GLB1
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JF15C9JF15_HUMAN
Beta-galactosidase
GLB1
102Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J539C9J539_HUMAN
Beta-galactosidase
GLB1
114Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WF40F8WF40_HUMAN
Beta-galactosidase
GLB1
84Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WEN1F8WEN1_HUMAN
Beta-galactosidase
GLB1
41Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti89H → Y in BAH13196 (PubMed:14702039).Curated1
Sequence conflicti201R → A in AAA51822 (PubMed:3143362).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00867110P → L in GM1G1. 8 PublicationsCorresponds to variant dbSNP:rs7637099EnsemblClinVar.1
Natural variantiVAR_00332949R → C in GM1G1 and GM1G2; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_06234049R → H in GM1G3. 1 Publication1
Natural variantiVAR_00333051I → T in GM1G3; no effect on catalytic activity; decreased protein stability. 3 Publications1
Natural variantiVAR_02612959R → C in GM1G1; loss of galactosidase activity; severe mutation. 3 Publications1
Natural variantiVAR_00867259R → H in GM1G1; with cardiac involvement in some patients; loss of galactosidase activity; severe mutation. 8 Publications1
Natural variantiVAR_06234168R → Q in GM1G2; 7.4% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_02613068R → W in GM1G2 and GM1G1; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_06234273K → E in GM1G3. 1 Publication1
Natural variantiVAR_00867382T → M in GM1G3; mild phenotype. 3 Publications1
Natural variantiVAR_06234383Y → C in MPS4B; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_00867483Y → H in MPS4B; 2-5% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_053875109R → W. Corresponds to variant dbSNP:rs35289681EnsemblClinVar.1
Natural variantiVAR_008675121R → S in GM1G1. 1 Publication1
Natural variantiVAR_003331123G → R in GM1G1; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_074054129E → Q1 Publication1
Natural variantiVAR_062344132M → T in GM1G1; 4.3% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_074055134G → R in GM1G2; unknown pathological significance. 1 Publication1
Natural variantiVAR_037937134G → V in GM1G1. 1 Publication1
Natural variantiVAR_062345136P → S in GM1G1. 1 Publication1
Natural variantiVAR_037938147Missing in GM1G1. 1 Publication1
Natural variantiVAR_062346148R → C in GM1G3 and GM1G2. 2 Publications1
Natural variantiVAR_013541148R → S in GM1G1. 2 Publications1
Natural variantiVAR_062347149S → F in MPS4B; 2.0% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_062348151D → V in GM1G1. 1 Publication1
Natural variantiVAR_026131151D → Y in GM1G1; complete lack of protein; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_037939155L → R in GM1G2 and GM1G3; 6.7% of wild-type galactosidase activity. 2 Publications1
Natural variantiVAR_037940162L → S in GM1G1; loss of galactosidase activity. 2 Publications