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Entry version 190 (10 Feb 2021)
Sequence version 3 (08 Jun 2016)
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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 glycolipids such as galactosylceramide and galactosylsphingosine (PubMed:8281145, PubMed:8399327). 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 (PubMed:8281145, PubMed:8399327).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%5Fsection">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>Kineticsi

  1. KM=10 µM for N-acyl-beta-D-galactosylsphingosine1 Publication

    pH dependencei

    Optimum pH is 4.0-4.4.1 Publication

    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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

    Pathway Commons web resource for biological pathway data

    More...
    PathwayCommonsi
    P54803

    Reactome - a knowledgebase of biological pathways and processes

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

    Protein family/group databases

    Carbohydrate-Active enZymes

    More...
    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%5Fand%5Ftaxonomy%5Fsection">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:
    GalactocerebrosidaseCurated (EC:3.2.1.462 Publications)
    Short name:
    GALCERase
    Alternative name(s):
    Galactocerebroside beta-galactosidase
    Galactosylceramidase1 Publication
    Galactosylceramide beta-galactosidase
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:GALCImported
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:4115, GALC

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    606890, gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_P54803

    Eukaryotic Pathogen, Vector and Host Database Resources

    More...
    VEuPathDBi
    HostDB:ENSG00000054983.16

    <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 & Seán O’Donoghue; 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 variants 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.
    Related information in OMIM
    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 PublicationCorresponds to variant dbSNP:rs1555383892EnsemblClinVar.1
    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:rs756690487Ensembl.1
    Natural variantiVAR_003382112T → A in GLD; adult. Corresponds to variant dbSNP:rs147313927EnsemblClinVar.1
    Natural variantiVAR_003383117M → L in GLD; adult. 1 PublicationCorresponds to variant dbSNP:rs145580093Ensembl.1
    Natural variantiVAR_064432130E → K in GLD. 1 PublicationCorresponds to variant dbSNP:rs374635469EnsemblClinVar.1
    Natural variantiVAR_003384187D → V in GLD. Corresponds to variant dbSNP:rs997021099EnsemblClinVar.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. Corresponds to variant dbSNP:rs1308816724EnsemblClinVar.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:rs1057516642EnsemblClinVar.1
    Natural variantiVAR_064433318P → R in GLD. 1 PublicationCorresponds to variant dbSNP:rs387906954EnsemblClinVar.1
    Natural variantiVAR_064434323G → R in GLD. 1 PublicationCorresponds to variant dbSNP:rs1472207768Ensembl.1
    Natural variantiVAR_013964335Y → C in GLD; infantile; significant reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs757407613EnsemblClinVar.1
    Natural variantiVAR_064435384I → T in GLD. 1 PublicationCorresponds to variant dbSNP:rs1376496659Ensembl.1
    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. Corresponds to variant dbSNP:rs771232832Ensembl.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. Corresponds to variant dbSNP:rs1360345372EnsemblClinVar.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 variant, Leukodystrophy

    Organism-specific databases

    DisGeNET

    More...
    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

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    P54803, Tbio

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL3713095

    Genetic variation 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 or proteolytic cleavage.<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%5Fprocessing%5Fsection">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

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    P54803

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    P54803

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

    More...
    PaxDbi
    P54803

    PeptideAtlas

    More...
    PeptideAtlasi
    P54803

    PRoteomics IDEntifications database

    More...
    PRIDEi
    P54803

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    56722 [P54803-1]
    56723 [P54803-3]
    56724 [P54803-4]
    56725 [P54803-5]

    PTM databases

    GlyGen: Computational and Informatics Resources for Glycoscience

    More...
    GlyGeni
    P54803, 6 sites

    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.

    More...
    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

    More...
    Bgeei
    ENSG00000054983, Expressed in adrenal tissue and 247 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    P54803, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    P54803, HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000054983, Low tissue specificity

    <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)

    More...
    BioGRIDi
    108854, 19 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    P54803, 14 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000261304

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    P54803, protein

    <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

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

    More...
    SMRi
    P54803

    Database of comparative protein structure models

    More...
    ModBasei
    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
    ENOG502QQ1Q, Eukaryota

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00390000003303

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    CLU_015456_2_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    P54803

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    IWNERPF

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    P54803

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF312985

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    3.20.20.70, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    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

    More...
    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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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.

    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

    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
    A0A087WX10A0A087WX10_HUMAN
    Galactocerebrosidase
    GALC
    404Annotation 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>
    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>
    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>
    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>
    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. Truncated N-terminus.Curated
    The sequence AAA80975 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
    The sequence AAH36518 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
    The sequence BAA04971 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
    The sequence BAA04972 differs from that shown. Probable intron retention.Curated
    The sequence BAA04972 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
    The sequence BAA24902 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
    The sequence BAG59160 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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%5Fin%5Fdisease">'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 PublicationCorresponds to variant dbSNP:rs1555383892EnsemblClinVar.1
    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:rs756690487Ensembl.1
    Natural variantiVAR_003382112T → A in GLD; adult. Corresponds to variant dbSNP:rs147313927EnsemblClinVar.1
    Natural variantiVAR_003383117M → L in GLD; adult. 1 PublicationCorresponds to variant dbSNP:rs145580093Ensembl.1
    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:rs997021099EnsemblClinVar.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. Corresponds to variant dbSNP:rs1308816724EnsemblClinVar.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:rs1057516642EnsemblClinVar.1
    Natural variantiVAR_064433318P → R in GLD. 1 PublicationCorresponds to variant dbSNP:rs387906954EnsemblClinVar.1
    Natural variantiVAR_064434323G → R in GLD. 1 PublicationCorresponds to variant dbSNP:rs1472207768Ensembl.1
    Natural variantiVAR_013964335Y → C in GLD; infantile; significant reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs757407613EnsemblClinVar.1
    Natural variantiVAR_064435384I → T in GLD. 1 PublicationCorresponds to variant dbSNP:rs1376496659Ensembl.1
    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. Corresponds to variant dbSNP:rs771232832Ensembl.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 → T6 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. Corresponds to variant dbSNP:rs1360345372EnsemblClinVar.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.<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 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]

    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

    <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 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]

    3D structure databases

    SMRiP54803
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGRIDi108854, 19 interactors
    IntActiP54803, 14 interactors
    STRINGi9606.ENSP00000261304

    Chemistry databases

    ChEMBLiCHEMBL3713095
    SwissLipidsiSLP:000000644

    Protein family/group databases

    CAZyiGH59, Glycoside Hydrolase Family 59

    PTM databases

    GlyGeniP54803, 6 sites
    iPTMnetiP54803
    PhosphoSitePlusiP54803

    Genetic variation databases

    BioMutaiGALC
    DMDMi229462868

    Proteomic databases

    EPDiP54803
    jPOSTiP54803
    MassIVEiP54803
    PaxDbiP54803
    PeptideAtlasiP54803
    PRIDEiP54803
    ProteomicsDBi56722 [P54803-1]
    56723 [P54803-3]
    56724 [P54803-4]
    56725 [P54803-5]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...
    Antibodypediai
    26266, 219 antibodies

    The DNASU plasmid repository

    More...
    DNASUi
    2581

    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

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    GALC
    HGNCiHGNC:4115, GALC
    HPAiENSG00000054983, Low tissue specificity
    MalaCardsiGALC
    MIMi245200, phenotype
    606890, gene
    neXtProtiNX_P54803
    OpenTargetsiENSG00000054983
    Orphaneti206448, Adult Krabbe disease
    206436, Infantile Krabbe disease
    206443, Late-infantile/juvenile Krabbe disease
    PharmGKBiPA28530
    VEuPathDBiHostDB:ENSG00000054983.16

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiENOG502QQ1Q, Eukaryota
    GeneTreeiENSGT00390000003303
    HOGENOMiCLU_015456_2_0_1
    InParanoidiP54803
    OMAiIWNERPF
    PhylomeDBiP54803
    TreeFamiTF312985

    Enzyme and pathway databases

    PathwayCommonsiP54803
    ReactomeiR-HSA-1660662, Glycosphingolipid metabolism

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...
    BioGRID-ORCSi
    2581, 4 hits in 873 CRISPR screens

    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
    PharosiP54803, Tbio

    Protein Ontology

    More...
    PROi
    PR:P54803
    RNActiP54803, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000054983, Expressed in adrenal tissue and 247 other tissues
    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...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    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%5Fand%5Fisoforms">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: February 10, 2021
    This is version 190 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

    Direct protein sequencing, Reference proteome

    Documents

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