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Protein

Galactocerebrosidase

Gene

GALC

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

Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon.2 Publications

Caution

It is uncertain whether Met-1 or Met-17 is the initiator.Curated

<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 4.0-4.4.

Temperature dependencei

Activity is lost after heating at 52 degrees Celsius for five minutes.

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 sitei109SubstrateBy similarity1
Binding sitei151SubstrateBy similarity1
Binding sitei197SubstrateBy similarity1
<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 sitei198Proton donor/acceptorBy similarity1
Active sitei274NucleophileBy similarity1
Binding sitei396SubstrateBy similarity1

<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

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
Biological processLipid degradation, Lipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1660662 Glycosphingolipid metabolism

Protein family/group databases

Carbohydrate-Active enZymes

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CAZyi
GH59 Glycoside Hydrolase Family 59

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000644

<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:
Galactocerebrosidase (EC:3.2.1.46)
Short name:
GALCERase
Alternative name(s):
Galactocerebroside beta-galactosidase
Galactosylceramidase
Galactosylceramide beta-galactosidase
<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:GALC
<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 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000054983.16

Human Gene Nomenclature Database

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HGNCi
HGNC:4115 GALC

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606890 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P54803

<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

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

Leukodystrophy, globoid cell (GLD)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death.
See also OMIM:245200
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_06443141G → S in GLD. 1 PublicationCorresponds to variant dbSNP:rs387906955EnsemblClinVar.1
Natural variantiVAR_01395659G → R in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_01395768S → F in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_01395879R → H in GLD. 1 PublicationCorresponds to variant dbSNP:rs370117160Ensembl.1
Natural variantiVAR_01395982I → M in GLD; adult; reduction of activity; when associated with V-2105. 1 Publication1
Natural variantiVAR_003380111G → D in GLD. Corresponds to variant dbSNP:rs746487628Ensembl.1
Natural variantiVAR_003381111G → S in GLD. 1 PublicationCorresponds to variant dbSNP:rs756690487EnsemblClinVar.1
Natural variantiVAR_003382112T → A in GLD; adult. Corresponds to variant dbSNP:rs147313927EnsemblClinVar.1
Natural variantiVAR_003383117M → L in GLD; adult. 1 Publication1
Natural variantiVAR_064432130E → K in GLD. 1 PublicationCorresponds to variant dbSNP:rs374635469EnsemblClinVar.1
Natural variantiVAR_003384187D → V in GLD. Corresponds to variant dbSNP:rs997021099Ensembl.1
Natural variantiVAR_003385194G → A in GLD. Corresponds to variant dbSNP:rs963756824Ensembl.1
Natural variantiVAR_003387250I → T in GLD; late infantile. 1 PublicationCorresponds to variant dbSNP:rs886039569EnsemblClinVar.1
Natural variantiVAR_003388263A → T in GLD. 1
Natural variantiVAR_013961278T → I in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_003389284G → S in GLD. 1 PublicationCorresponds to variant dbSNP:rs377274761EnsemblClinVar.1
Natural variantiVAR_003390286G → D in GLD; significant reduction of activity. 2 PublicationsCorresponds to variant dbSNP:rs199847983EnsemblClinVar.1
Natural variantiVAR_003391295N → T in GLD. Corresponds to variant dbSNP:rs746922378EnsemblClinVar.1
Natural variantiVAR_003392303S → F in GLD; infantile. Corresponds to variant dbSNP:rs756352952EnsemblClinVar.1
Natural variantiVAR_013963314Y → C in GLD. 1 Publication1
Natural variantiVAR_003393318P → A in GLD. 1 PublicationCorresponds to variant dbSNP:rs1057516642Ensembl.1
Natural variantiVAR_064433318P → R in GLD. 1 PublicationCorresponds to variant dbSNP:rs387906954EnsemblClinVar.1
Natural variantiVAR_064434323G → R in GLD. 1 Publication1
Natural variantiVAR_013964335Y → C in GLD; infantile; significant reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs757407613Ensembl.1
Natural variantiVAR_064435384I → T in GLD. 1 Publication1
Natural variantiVAR_064436396R → L in GLD. 1 Publication1
Natural variantiVAR_003394396R → W in GLD; bilateral cherry red spots. Corresponds to variant dbSNP:rs770485731EnsemblClinVar.1
Natural variantiVAR_003395400P → L in GLD. 1
Natural variantiVAR_013965426W → G in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_003396468T → S in GLD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34134328EnsemblClinVar.1
Natural variantiVAR_064437490Y → N in GLD. 1 PublicationCorresponds to variant dbSNP:rs202135871EnsemblClinVar.1
Natural variantiVAR_003397514F → S in GLD. Corresponds to variant dbSNP:rs375867319EnsemblClinVar.1
Natural variantiVAR_003398529T → M in GLD; infantile. Corresponds to variant dbSNP:rs200960659EnsemblClinVar.1
Natural variantiVAR_003399531R → C in GLD. Corresponds to variant dbSNP:rs749893889EnsemblClinVar.1
Natural variantiVAR_013966531R → H in GLD; infantile; significant reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs200378205EnsemblClinVar.1
Natural variantiVAR_003400544D → N in GLD; Arab patients. 1 PublicationCorresponds to variant dbSNP:rs387906952EnsemblClinVar.1
Natural variantiVAR_013967553G → R in GLD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs748573754EnsemblClinVar.1
Natural variantiVAR_003402566V → G in GLD. 1 Publication1
Natural variantiVAR_003403567Y → S in GLD. Corresponds to variant dbSNP:rs752537626EnsemblClinVar.1
Natural variantiVAR_003404592A → S in GLD. 1
Natural variantiVAR_003405599I → S in GLD; infantile; Druze patients. 1 PublicationCorresponds to variant dbSNP:rs387906953EnsemblClinVar.1
Natural variantiVAR_013968634L → S in GLD; adult. 1 PublicationCorresponds to variant dbSNP:rs138577661EnsemblClinVar.1
Natural variantiVAR_003407645L → R in GLD; adult. Corresponds to variant dbSNP:rs780593419Ensembl.1
Natural variantiVAR_013969668T → R in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_069512681V → M in GLD. 1 PublicationCorresponds to variant dbSNP:rs200607029EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNET

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DisGeNETi
2581

MalaCards human disease database

More...
MalaCardsi
GALC
MIMi245200 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000054983

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

More...
Orphaneti
206448 Adult Krabbe disease
206436 Infantile Krabbe disease
206443 Late-infantile/juvenile Krabbe disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28530

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3713095

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GALC

Domain mapping of disease mutations (DMDM)

More...
DMDMi
229462868

<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 – 422 PublicationsAdd BLAST42
<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_000001223043 – 685GalactocerebrosidaseAdd BLAST643

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>Glycosylationi143N-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 bondi287 ↔ 394By similarity
Glycosylationi379N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi403N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi556N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi559N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi602N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P54803

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

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PaxDbi
P54803

PeptideAtlas

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PeptideAtlasi
P54803

PRoteomics IDEntifications database

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PRIDEi
P54803

ProteomicsDB human proteome resource

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ProteomicsDBi
56722
56723 [P54803-3]
56724 [P54803-4]
56725 [P54803-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P54803

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

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PhosphoSitePlusi
P54803

<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 urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000054983 Expressed in 238 organ(s), highest expression level in adrenal tissue

CleanEx database of gene expression profiles

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CleanExi
HS_GALC

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P54803 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P54803 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB022196

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108854, 16 interactors

Protein interaction database and analysis system

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IntActi
P54803, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000261304

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P54803

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

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SMRi
P54803

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
Search...

<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 59 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IITE Eukaryota
ENOG410XTIS LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000003303

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000068033

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005800

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P54803

KEGG Orthology (KO)

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KOi
K01202

Identification of Orthologs from Complete Genome Data

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OMAi
MGLPWSF

Database for complete collections of gene phylogenies

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PhylomeDBi
P54803

TreeFam database of animal gene trees

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TreeFami
TF312985

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.20.20.70, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR013785 Aldolase_TIM
IPR001286 Glyco_hydro_59
IPR035394 Glyco_hydro_59_dom
IPR017853 Glycoside_hydrolase_SF

The PANTHER Classification System

More...
PANTHERi
PTHR15172 PTHR15172, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02057 Glyco_hydro_59, 1 hit
PF17387 Glyco_hydro_59M, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00850 GLHYDRLASE59

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51445 SSF51445, 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 (4+)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 4 <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 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P54803-1) [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
MAEWLLSASW QRRAKAMTAA AGSAGRAAVP LLLCALLAPG GAYVLDDSDG
60 70 80 90 100
LGREFDGIGA VSGGGATSRL LVNYPEPYRS QILDYLFKPN FGASLHILKV
110 120 130 140 150
EIGGDGQTTD GTEPSHMHYA LDENYFRGYE WWLMKEAKKR NPNITLIGLP
160 170 180 190 200
WSFPGWLGKG FDWPYVNLQL TAYYVVTWIV GAKRYHDLDI DYIGIWNERS
210 220 230 240 250
YNANYIKILR KMLNYQGLQR VKIIASDNLW ESISASMLLD AELFKVVDVI
260 270 280 290 300
GAHYPGTHSA KDAKLTGKKL WSSEDFSTLN SDMGAGCWGR ILNQNYINGY
310 320 330 340 350
MTSTIAWNLV ASYYEQLPYG RCGLMTAQEP WSGHYVVESP VWVSAHTTQF
360 370 380 390 400
TQPGWYYLKT VGHLEKGGSY VALTDGLGNL TIIIETMSHK HSKCIRPFLP
410 420 430 440 450
YFNVSQQFAT FVLKGSFSEI PELQVWYTKL GKTSERFLFK QLDSLWLLDS
460 470 480 490 500
DGSFTLSLHE DELFTLTTLT TGRKGSYPLP PKSQPFPSTY KDDFNVDYPF
510 520 530 540 550
FSEAPNFADQ TGVFEYFTNI EDPGEHHFTL RQVLNQRPIT WAADASNTIS
560 570 580 590 600
IIGDYNWTNL TIKCDVYIET PDTGGVFIAG RVNKGGILIR SARGIFFWIF
610 620 630 640 650
ANGSYRVTGD LAGWIIYALG RVEVTAKKWY TLTLTIKGHF TSGMLNDKSL
660 670 680
WTDIPVNFPK NGWAAIGTHS FEFAQFDNFL VEATR
Length:685
Mass (Da):77,063
Last modified:June 8, 2016 - v3
<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:i03F3D223381AD5B1
GO
Isoform 3 (identifier: P54803-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     66-88: Missing.

Note: No experimental confirmation available.
Show »
Length:662
Mass (Da):74,294
Checksum:iEDEF265730A257BE
GO
Isoform 4 (identifier: P54803-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MAEWLLSASW...DGIGAVSGGG → MLGKSHGRAT...HQVTPEEKPA

Show »
Length:659
Mass (Da):74,764
Checksum:iA35297C55D708322
GO
Isoform 5 (identifier: P54803-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGAVSGGG → MGFMVADLW
     638-685: GHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR → VAGRRKKT

Note: No experimental confirmation available.
Show »
Length:589
Mass (Da):67,184
Checksum:i0859D4E53CD87B64
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V5E8G3V5E8_HUMAN
Galactocerebrosidase
GALC
211Annotation 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>
G3V4M2G3V4M2_HUMAN
Galactocerebrosidase
GALC
112Annotation 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>
A0A087WX10A0A087WX10_HUMAN
Galactocerebrosidase
GALC
404Annotation 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>
G3V255G3V255_HUMAN
Galactocerebrosidase
GALC
434Annotation 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>
H0YJG8H0YJG8_HUMAN
Galactocerebrosidase
GALC
72Annotation 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>
H0YJV6H0YJV6_HUMAN
Galactocerebrosidase
GALC
62Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA16645 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAA80975 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH36518 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA04971 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA04972 differs from that shown. Probable intron retention.Curated
The sequence BAA04972 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA24902 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG59160 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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 conflicti78Y → H in BAH13778 (PubMed:7601472).Curated1
Sequence conflicti195I → T in BAG64110 (PubMed:14702039).Curated1
Sequence conflicti422E → G in BAG64110 (PubMed:14702039).Curated1
Isoform 4 (identifier: P54803-4)
Sequence conflicti17A → T in BAG64110 (PubMed:14702039).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Polymorphic amino-acid changes are responsible for the wide range of catalytic activities found in the general population.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06443021A → P1 PublicationCorresponds to variant dbSNP:rs111887056EnsemblClinVar.1
Natural variantiVAR_06443141G → S in GLD. 1 PublicationCorresponds to variant dbSNP:rs387906955EnsemblClinVar.1
Natural variantiVAR_01395659G → R in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_01395768S → F in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_01395879R → H in GLD. 1 PublicationCorresponds to variant dbSNP:rs370117160Ensembl.1
Natural variantiVAR_01395982I → M in GLD; adult; reduction of activity; when associated with V-2105. 1 Publication1
Natural variantiVAR_003380111G → D in GLD. Corresponds to variant dbSNP:rs746487628Ensembl.1
Natural variantiVAR_003381111G → S in GLD. 1 PublicationCorresponds to variant dbSNP:rs756690487EnsemblClinVar.1
Natural variantiVAR_003382112T → A in GLD; adult. Corresponds to variant dbSNP:rs147313927EnsemblClinVar.1
Natural variantiVAR_003383117M → L in GLD; adult. 1 Publication1
Natural variantiVAR_064432130E → K in GLD. 1 PublicationCorresponds to variant dbSNP:rs374635469EnsemblClinVar.1
Natural variantiVAR_013960184R → C3 PublicationsCorresponds to variant dbSNP:rs1805078EnsemblClinVar.1
Natural variantiVAR_003384187D → V in GLD. Corresponds to variant dbSNP:rs997021099Ensembl.1
Natural variantiVAR_003385194G → A in GLD. Corresponds to variant dbSNP:rs963756824Ensembl.1
Natural variantiVAR_003386248D → N1 PublicationCorresponds to variant dbSNP:rs34362748EnsemblClinVar.1
Natural variantiVAR_003387250I → T in GLD; late infantile. 1 PublicationCorresponds to variant dbSNP:rs886039569EnsemblClinVar.1
Natural variantiVAR_003388263A → T in GLD. 1
Natural variantiVAR_013961278T → I in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_003389284G → S in GLD. 1 PublicationCorresponds to variant dbSNP:rs377274761EnsemblClinVar.1
Natural variantiVAR_003390286G → D in GLD; significant reduction of activity. 2 PublicationsCorresponds to variant dbSNP:rs199847983EnsemblClinVar.1
Natural variantiVAR_003391295N → T in GLD. Corresponds to variant dbSNP:rs746922378EnsemblClinVar.1
Natural variantiVAR_003392303S → F in GLD; infantile. Corresponds to variant dbSNP:rs756352952EnsemblClinVar.1
Natural variantiVAR_013962305I → V1 PublicationCorresponds to variant dbSNP:rs74887188EnsemblClinVar.1
Natural variantiVAR_013963314Y → C in GLD. 1 Publication1
Natural variantiVAR_003393318P → A in GLD. 1 PublicationCorresponds to variant dbSNP:rs1057516642Ensembl.1
Natural variantiVAR_064433318P → R in GLD. 1 PublicationCorresponds to variant dbSNP:rs387906954EnsemblClinVar.1
Natural variantiVAR_064434323G → R in GLD. 1 Publication1
Natural variantiVAR_013964335Y → C in GLD; infantile; significant reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs757407613Ensembl.1
Natural variantiVAR_064435384I → T in GLD. 1 Publication1
Natural variantiVAR_064436396R → L in GLD. 1 Publication1
Natural variantiVAR_003394396R → W in GLD; bilateral cherry red spots. Corresponds to variant dbSNP:rs770485731EnsemblClinVar.1
Natural variantiVAR_003395400P → L in GLD. 1
Natural variantiVAR_013965426W → G in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_003396468T → S in GLD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34134328EnsemblClinVar.1
Natural variantiVAR_064437490Y → N in GLD. 1 PublicationCorresponds to variant dbSNP:rs202135871EnsemblClinVar.1
Natural variantiVAR_003397514F → S in GLD. Corresponds to variant dbSNP:rs375867319EnsemblClinVar.1
Natural variantiVAR_003398529T → M in GLD; infantile. Corresponds to variant dbSNP:rs200960659EnsemblClinVar.1
Natural variantiVAR_003399531R → C in GLD. Corresponds to variant dbSNP:rs749893889EnsemblClinVar.1
Natural variantiVAR_013966531R → H in GLD; infantile; significant reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs200378205EnsemblClinVar.1
Natural variantiVAR_003400544D → N in GLD; Arab patients. 1 PublicationCorresponds to variant dbSNP:rs387906952EnsemblClinVar.1
Natural variantiVAR_013967553G → R in GLD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs748573754EnsemblClinVar.1
Natural variantiVAR_003401562I → T Common polymorphism. 6 PublicationsCorresponds to variant dbSNP:rs398607EnsemblClinVar.1
Natural variantiVAR_003402566V → G in GLD. 1 Publication1
Natural variantiVAR_003403567Y → S in GLD. Corresponds to variant dbSNP:rs752537626EnsemblClinVar.1
Natural variantiVAR_003404592A → S in GLD. 1
Natural variantiVAR_003405599I → S in GLD; infantile; Druze patients. 1 PublicationCorresponds to variant dbSNP:rs387906953EnsemblClinVar.1
Natural variantiVAR_013968634L → S in GLD; adult. 1 PublicationCorresponds to variant dbSNP:rs138577661EnsemblClinVar.1
Natural variantiVAR_003406641T → A3 PublicationsCorresponds to variant dbSNP:rs421262EnsemblClinVar.1
Natural variantiVAR_003407645L → R in GLD; adult. Corresponds to variant dbSNP:rs780593419Ensembl.1
Natural variantiVAR_013969668T → R in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_069512681V → M in GLD. 1 PublicationCorresponds to variant dbSNP:rs200607029EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0369741 – 65MAEWL…VSGGG → MLGKSHGRATHGPLPLADLG IHLPCVKVLHQVTPEEKPA in isoform 4. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_0369751 – 65MAEWL…VSGGG → MGFMVADLW in isoform 5. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_03697666 – 88Missing in isoform 3. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_036977638 – 685GHFTS…VEATR → VAGRRKKT in isoform 5. 1 PublicationAdd BLAST48

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L38559
, L38544, L38545, L38546, L38547, L38548, L38549, L38550, L38551, L38552, L38553, L38555, L38556, L38557, L38558 Genomic DNA Translation: AAA80975.1 Different initiation.
D86181 Genomic DNA Translation: BAA24902.1 Different initiation.
AK296530 mRNA Translation: BAG59160.1 Different initiation.
AK302519 mRNA Translation: BAG63793.1
AK302683 mRNA Translation: BAH13778.1
AK302956 mRNA Translation: BAG64110.1
AL136501 Genomic DNA No translation available.
AL157955 Genomic DNA No translation available.
L23116 mRNA Translation: AAA16645.1 Different initiation.
D25283 mRNA Translation: BAA04971.1 Different initiation.
D25284 mRNA Translation: BAA04972.1 Sequence problems.
BC036518 mRNA Translation: AAH36518.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS55936.1 [P54803-3]
CCDS55937.1 [P54803-4]
CCDS9878.2 [P54803-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
I54205

NCBI Reference Sequences

More...
RefSeqi
NP_000144.2, NM_000153.3 [P54803-1]
NP_001188330.1, NM_001201401.1 [P54803-3]
NP_001188331.1, NM_001201402.1 [P54803-4]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.513439

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000261304; ENSP00000261304; ENSG00000054983 [P54803-1]
ENST00000393568; ENSP00000377198; ENSG00000054983 [P54803-3]
ENST00000393569; ENSP00000377199; ENSG00000054983 [P54803-4]
ENST00000544807; ENSP00000437513; ENSG00000054983 [P54803-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2581

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2581

UCSC genome browser

More...
UCSCi
uc010tvz.2 human [P54803-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L38559
, L38544, L38545, L38546, L38547, L38548, L38549, L38550, L38551, L38552, L38553, L38555, L38556, L38557, L38558 Genomic DNA Translation: AAA80975.1 Different initiation.
D86181 Genomic DNA Translation: BAA24902.1 Different initiation.
AK296530 mRNA Translation: BAG59160.1 Different initiation.
AK302519 mRNA Translation: BAG63793.1
AK302683 mRNA Translation: BAH13778.1
AK302956 mRNA Translation: BAG64110.1
AL136501 Genomic DNA No translation available.
AL157955 Genomic DNA No translation available.
L23116 mRNA Translation: AAA16645.1 Different initiation.
D25283 mRNA Translation: BAA04971.1 Different initiation.
D25284 mRNA Translation: BAA04972.1 Sequence problems.
BC036518 mRNA Translation: AAH36518.1 Different initiation.
CCDSiCCDS55936.1 [P54803-3]
CCDS55937.1 [P54803-4]
CCDS9878.2 [P54803-1]
PIRiI54205
RefSeqiNP_000144.2, NM_000153.3 [P54803-1]
NP_001188330.1, NM_001201401.1 [P54803-3]
NP_001188331.1, NM_001201402.1 [P54803-4]
UniGeneiHs.513439

3D structure databases

ProteinModelPortaliP54803
SMRiP54803
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108854, 16 interactors
IntActiP54803, 2 interactors
STRINGi9606.ENSP00000261304

Chemistry databases

ChEMBLiCHEMBL3713095
SwissLipidsiSLP:000000644

Protein family/group databases

CAZyiGH59 Glycoside Hydrolase Family 59

PTM databases

iPTMnetiP54803
PhosphoSitePlusiP54803

Polymorphism and mutation databases

BioMutaiGALC
DMDMi229462868

Proteomic databases

EPDiP54803
PaxDbiP54803
PeptideAtlasiP54803
PRIDEiP54803
ProteomicsDBi56722
56723 [P54803-3]
56724 [P54803-4]
56725 [P54803-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2581
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261304; ENSP00000261304; ENSG00000054983 [P54803-1]
ENST00000393568; ENSP00000377198; ENSG00000054983 [P54803-3]
ENST00000393569; ENSP00000377199; ENSG00000054983 [P54803-4]
ENST00000544807; ENSP00000437513; ENSG00000054983 [P54803-5]
GeneIDi2581
KEGGihsa:2581
UCSCiuc010tvz.2 human [P54803-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2581
DisGeNETi2581
EuPathDBiHostDB:ENSG00000054983.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GALC

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0026669
HGNCiHGNC:4115 GALC
HPAiCAB022196
MalaCardsiGALC
MIMi245200 phenotype
606890 gene
neXtProtiNX_P54803
OpenTargetsiENSG00000054983
Orphaneti206448 Adult Krabbe disease
206436 Infantile Krabbe disease
206443 Late-infantile/juvenile Krabbe disease
PharmGKBiPA28530

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IITE Eukaryota
ENOG410XTIS LUCA
GeneTreeiENSGT00390000003303
HOGENOMiHOG000068033
HOVERGENiHBG005800
InParanoidiP54803
KOiK01202
OMAiMGLPWSF
PhylomeDBiP54803
TreeFamiTF312985

Enzyme and pathway databases

ReactomeiR-HSA-1660662 Glycosphingolipid metabolism

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GALC human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Galactosylceramidase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2581

Protein Ontology

More...
PROi
PR:P54803

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000054983 Expressed in 238 organ(s), highest expression level in adrenal tissue
CleanExiHS_GALC
ExpressionAtlasiP54803 baseline and differential
GenevisibleiP54803 HS

Family and domain databases

Gene3Di3.20.20.70, 1 hit
InterProiView protein in InterPro
IPR013785 Aldolase_TIM
IPR001286 Glyco_hydro_59
IPR035394 Glyco_hydro_59_dom
IPR017853 Glycoside_hydrolase_SF
PANTHERiPTHR15172 PTHR15172, 1 hit
PfamiView protein in Pfam
PF02057 Glyco_hydro_59, 1 hit
PF17387 Glyco_hydro_59M, 1 hit
PRINTSiPR00850 GLHYDRLASE59
SUPFAMiSSF51445 SSF51445, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGALC_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P54803
Secondary accession number(s): B4DKE8
, B4DYN1, B4DZJ8, B7Z7Z2, J3KN25, J3KPP8, Q8J030
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: June 8, 2016
Last modified: December 5, 2018
This is version 175 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  3. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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