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Protein

Sucrase-isomaltase, intestinal

Gene

SI

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

Plays an important role in the final stage of carbohydrate digestion. Isomaltase activity is specific for both alpha-1,4- and alpha-1,6-oligosaccharides.1 Publication

Miscellaneous

There is a high degree of homology between the isomaltase and sucrase portions (41% of amino acid identity) indicating that this protein is evolved by partial gene duplication.

<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

  • Hydrolysis of sucrose and maltose by an alpha-D-glucosidase-type action. EC:3.2.1.48
  • Hydrolysis of (1->6)-alpha-D-glucosidic linkages in some oligosaccharides produced from starch and glycogen by alpha-amylase, and in isomaltose. EC:3.2.1.10

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 sitei264Substrate1
Binding sitei388Substrate1
<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 sitei505Nucleophile; for isomaltase activityPROSITE-ProRule annotation1 Publication1
Binding sitei588Substrate1
Active sitei604For isomaltase activity1 Publication1
Binding sitei662Substrate1
Active sitei1394Nucleophile; for sucrase activityPROSITE-ProRule annotation1 Publication1
Active sitei1397For sucrase activityBy similarity1
Active sitei1500Proton donor; for isomaltase activityBy 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, Multifunctional enzyme

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS01688-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.2.1.10 2681
3.2.1.48 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-189085 Digestion of dietary carbohydrate
R-HSA-5659898 Intestinal saccharidase deficiencies

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GH31 Glycoside Hydrolase Family 31

<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:
Sucrase-isomaltase, intestinal
Cleaved into the following 2 chains:
<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:SI
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000090402.7

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10856 SI

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609845 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P14410

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini2 – 12CytoplasmicAdd BLAST11
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei13 – 32Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST20
Topological domaini33 – 1827LumenalAdd BLAST1795

Keywords - Cellular componenti

Cell membrane, Membrane

<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

Congenital sucrase-isomaltase deficiency (CSID)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase. The prevalence of CSID is 0.02 % in individuals of European descent and appears to be much higher in Greenland, Alaskan, and Canadian native people. CSID arises due to post-translational perturbations in the intracellular transport, polarized sorting, aberrant processing, and defective function of SI.
See also OMIM:222900
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_025368117Q → R in CSID; missorting of the enzyme to the basolateral membrane. 1 PublicationCorresponds to variant dbSNP:rs121912612EnsemblClinVar.1
Natural variantiVAR_025370341L → P in CSID; causes loss of anchored SI from the membrane. 1 PublicationCorresponds to variant dbSNP:rs267607049EnsemblClinVar.1
Natural variantiVAR_025371577V → G in CSID. 1 PublicationCorresponds to variant dbSNP:rs121912615EnsemblClinVar.1
Natural variantiVAR_025372594S → P in CSID. 1 PublicationCorresponds to variant dbSNP:rs765433197Ensembl.1
Natural variantiVAR_025373620L → P in CSID; SI accumulates predominantly in the ER. 1 PublicationCorresponds to variant dbSNP:rs121912613EnsemblClinVar.1
Natural variantiVAR_025374694T → P in CSID. 1 Publication1
Natural variantiVAR_0253751073G → D in CSID. 1 PublicationCorresponds to variant dbSNP:rs121912616EnsemblClinVar.1
Natural variantiVAR_0078541098Q → P in CSID; exhibits intracellular accumulation of mannose-rich SI in the Golgi. 1 PublicationCorresponds to variant dbSNP:rs121912611EnsemblClinVar.1
Natural variantiVAR_0253761229C → Y in CSID. 1 PublicationCorresponds to variant dbSNP:rs121912614EnsemblClinVar.1
Natural variantiVAR_0253771367R → G in CSID. 1 PublicationCorresponds to variant dbSNP:rs143388292EnsemblClinVar.1
Natural variantiVAR_0253791745F → C in CSID. 1 PublicationCorresponds to variant dbSNP:rs79717168EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6476

MalaCards human disease database

More...
MalaCardsi
SI
MIMi222900 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000090402

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

More...
Orphaneti
306446 Congenital sucrase-isomaltase deficiency with minimal starch tolerance
306474 Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
306436 Congenital sucrase-isomaltase deficiency with starch intolerance
306462 Congenital sucrase-isomaltase deficiency without starch intolerance
306486 Congenital sucrase-isomaltase deficiency without sucrose intolerance

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35758

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2748

Drug and drug target database

More...
DrugBanki
DB00284 Acarbose
DB00747 Scopolamine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SI

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373594

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<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_00000185512 – 1827Sucrase-isomaltase, intestinalAdd BLAST1826
ChainiPRO_00000185522 – 1007IsomaltaseAdd BLAST1006
ChainiPRO_00000185531008 – 1827SucraseAdd BLAST820

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei7Phosphoserine; by PKA1 Publication1
<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 bondi63 ↔ 94PROSITE-ProRule annotation1 Publication
Disulfide bondi77 ↔ 93PROSITE-ProRule annotation1 Publication
Disulfide bondi88 ↔ 106PROSITE-ProRule annotation1 Publication
<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>Glycosylationi99N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei237SulfotyrosineSequence analysis1
Modified residuei239SulfotyrosineSequence analysis1
Modified residuei391SulfotyrosineSequence analysis1
Modified residuei400SulfotyrosineSequence analysis1
Glycosylationi437N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi455N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi520 ↔ 545PROSITE-ProRule annotation1 Publication
Disulfide bondi635 ↔ 646PROSITE-ProRule annotation1 Publication
Modified residuei667SulfotyrosineSequence analysis1
Modified residuei763SulfotyrosineSequence analysis1
Modified residuei765SulfotyrosineSequence analysis1
Glycosylationi823N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi855N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi904N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi926N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1235N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1303N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1340N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1354N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1403N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1535N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1572N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1675N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1748N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1763N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1815N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The precursor is proteolytically cleaved when exposed to pancreatic proteases in the intestinal lumen.
Sulfated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein, Sulfation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P14410

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P14410

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

More...
PaxDbi
P14410

PeptideAtlas

More...
PeptideAtlasi
P14410

PRoteomics IDEntifications database

More...
PRIDEi
P14410

ProteomicsDB human proteome resource

More...
ProteomicsDBi
53051

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P14410

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

More...
PhosphoSitePlusi
P14410

<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

Expressed in the poorly differentiated crypt cells of the small intestine as well as in the mature villous cells. Expressed at very low levels in the colon.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000090402 Expressed in 41 organ(s), highest expression level in jejunal mucosa

CleanEx database of gene expression profiles

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CleanExi
HS_SI

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P14410 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P14410 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA011897

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

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

The resulting sucrase and isomaltase subunits stay associated with one another in a complex by non-covalent linkages.1 Publication

Protein-protein interaction databases

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000264382

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P14410

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

Secondary structure

11827
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3LPOX-ray3.20A/B/C/D62-931[»]
3LPPX-ray2.15A/B/C/D62-931[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P14410

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

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SMRi
P14410

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...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P14410

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini61 – 110P-type 1PROSITE-ProRule annotationAdd BLAST50
Domaini932 – 978P-type 2PROSITE-ProRule annotationAdd BLAST47

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni110 – 1007IsomaltaseAdd BLAST898
Regioni1008 – 1827SucraseAdd BLAST820

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi43 – 60Ser/Thr-richAdd BLAST18

<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 31 family.Curated

Keywords - Domaini

Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1065 Eukaryota
COG1501 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161633

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000067936

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG080721

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P14410

KEGG Orthology (KO)

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KOi
K01203

Identification of Orthologs from Complete Genome Data

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OMAi
FHPYYMA

Database of Orthologous Groups

More...
OrthoDBi
151244at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P14410

TreeFam database of animal gene trees

More...
TreeFami
TF314577

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00111 Trefoil, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.1180, 4 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR031727 Gal_mutarotase_N
IPR011013 Gal_mutarotase_sf_dom
IPR000322 Glyco_hydro_31
IPR030458 Glyco_hydro_31_AS
IPR030459 Glyco_hydro_31_CS
IPR013780 Glyco_hydro_b
IPR017853 Glycoside_hydrolase_SF
IPR017957 P_trefoil_CS
IPR000519 P_trefoil_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01055 Glyco_hydro_31, 2 hits
PF16863 NtCtMGAM_N, 2 hits
PF00088 Trefoil, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00018 PD, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF51445 SSF51445, 2 hits
SSF74650 SSF74650, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00129 GLYCOSYL_HYDROL_F31_1, 2 hits
PS00707 GLYCOSYL_HYDROL_F31_2, 2 hits
PS00025 P_TREFOIL_1, 1 hit
PS51448 P_TREFOIL_2, 2 hits

<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>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P14410-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MARKKFSGLE ISLIVLFVIV TIIAIALIVV LATKTPAVDE ISDSTSTPAT
60 70 80 90 100
TRVTTNPSDS GKCPNVLNDP VNVRINCIPE QFPTEGICAQ RGCCWRPWND
110 120 130 140 150
SLIPWCFFVD NHGYNVQDMT TTSIGVEAKL NRIPSPTLFG NDINSVLFTT
160 170 180 190 200
QNQTPNRFRF KITDPNNRRY EVPHQYVKEF TGPTVSDTLY DVKVAQNPFS
210 220 230 240 250
IQVIRKSNGK TLFDTSIGPL VYSDQYLQIS TRLPSDYIYG IGEQVHKRFR
260 270 280 290 300
HDLSWKTWPI FTRDQLPGDN NNNLYGHQTF FMCIEDTSGK SFGVFLMNSN
310 320 330 340 350
AMEIFIQPTP IVTYRVTGGI LDFYILLGDT PEQVVQQYQQ LVGLPAMPAY
360 370 380 390 400
WNLGFQLSRW NYKSLDVVKE VVRRNREAGI PFDTQVTDID YMEDKKDFTY
410 420 430 440 450
DQVAFNGLPQ FVQDLHDHGQ KYVIILDPAI SIGRRANGTT YATYERGNTQ
460 470 480 490 500
HVWINESDGS TPIIGEVWPG LTVYPDFTNP NCIDWWANEC SIFHQEVQYD
510 520 530 540 550
GLWIDMNEVS SFIQGSTKGC NVNKLNYPPF TPDILDKLMY SKTICMDAVQ
560 570 580 590 600
NWGKQYDVHS LYGYSMAIAT EQAVQKVFPN KRSFILTRST FAGSGRHAAH
610 620 630 640 650
WLGDNTASWE QMEWSITGML EFSLFGIPLV GADICGFVAE TTEELCRRWM
660 670 680 690 700
QLGAFYPFSR NHNSDGYEHQ DPAFFGQNSL LVKSSRQYLT IRYTLLPFLY
710 720 730 740 750
TLFYKAHVFG ETVARPVLHE FYEDTNSWIE DTEFLWGPAL LITPVLKQGA
760 770 780 790 800
DTVSAYIPDA IWYDYESGAK RPWRKQRVDM YLPADKIGLH LRGGYIIPIQ
810 820 830 840 850
EPDVTTTASR KNPLGLIVAL GENNTAKGDF FWDDGETKDT IQNGNYILYT
860 870 880 890 900
FSVSNNTLDI VCTHSSYQEG TTLAFQTVKI LGLTDSVTEV RVAENNQPMN
910 920 930 940 950
AHSNFTYDAS NQVLLIADLK LNLGRNFSVQ WNQIFSENER FNCYPDADLA
960 970 980 990 1000
TEQKCTQRGC VWRTGSSLSK APECYFPRQD NSYSVNSARY SSMGITADLQ
1010 1020 1030 1040 1050
LNTANARIKL PSDPISTLRV EVKYHKNDML QFKIYDPQKK RYEVPVPLNI
1060 1070 1080 1090 1100
PTTPISTYED RLYDVEIKEN PFGIQIRRRS SGRVIWDSWL PGFAFNDQFI
1110 1120 1130 1140 1150
QISTRLPSEY IYGFGEVEHT AFKRDLNWNT WGMFTRDQPP GYKLNSYGFH
1160 1170 1180 1190 1200
PYYMALEEEG NAHGVFLLNS NAMDVTFQPT PALTYRTVGG ILDFYMFLGP
1210 1220 1230 1240 1250
TPEVATKQYH EVIGHPVMPA YWALGFQLCR YGYANTSEVR ELYDAMVAAN
1260 1270 1280 1290 1300
IPYDVQYTDI DYMERQLDFT IGEAFQDLPQ FVDKIRGEGM RYIIILDPAI
1310 1320 1330 1340 1350
SGNETKTYPA FERGQQNDVF VKWPNTNDIC WAKVWPDLPN ITIDKTLTED
1360 1370 1380 1390 1400
EAVNASRAHV AFPDFFRTST AEWWAREIVD FYNEKMKFDG LWIDMNEPSS
1410 1420 1430 1440 1450
FVNGTTTNQC RNDELNYPPY FPELTKRTDG LHFRTICMEA EQILSDGTSV
1460 1470 1480 1490 1500
LHYDVHNLYG WSQMKPTHDA LQKTTGKRGI VISRSTYPTS GRWGGHWLGD
1510 1520 1530 1540 1550
NYARWDNMDK SIIGMMEFSL FGMSYTGADI CGFFNNSEYH LCTRWMQLGA
1560 1570 1580 1590 1600
FYPYSRNHNI ANTRRQDPAS WNETFAEMSR NILNIRYTLL PYFYTQMHEI
1610 1620 1630 1640 1650
HANGGTVIRP LLHEFFDEKP TWDIFKQFLW GPAFMVTPVL EPYVQTVNAY
1660 1670 1680 1690 1700
VPNARWFDYH TGKDIGVRGQ FQTFNASYDT INLHVRGGHI LPCQEPAQNT
1710 1720 1730 1740 1750
FYSRQKHMKL IVAADDNQMA QGSLFWDDGE SIDTYERDLY LSVQFNLNQT
1760 1770 1780 1790 1800
TLTSTILKRG YINKSETRLG SLHVWGKGTT PVNAVTLTYN GNKNSLPFNE
1810 1820
DTTNMILRID LTTHNVTLEE PIEINWS
Length:1,827
Mass (Da):209,453
Last modified:January 11, 2011 - v6
<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:iDCB93F068AEEF83E
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WF21F8WF21_HUMAN
Sucrase-isomaltase, intestinal
SI
46Annotation score:

Annotation score:1 out of 5

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti300N → D in AAI16453 (PubMed:15489334).Curated1
Sequence conflicti460S → I in AAI15035 (PubMed:15489334).Curated1
Sequence conflicti475P → S in AAI15035 (PubMed:15489334).Curated1
Sequence conflicti548A → V in AAI16453 (PubMed:15489334).Curated1
Sequence conflicti584F → L in AAI15035 (PubMed:15489334).Curated1
Sequence conflicti588R → C in AAI15035 (PubMed:15489334).Curated1
Sequence conflicti633D → A in AAI15035 (PubMed:15489334).Curated1
Sequence conflicti687Q → R in AAI16453 (PubMed:15489334).Curated1
Sequence conflicti884T → A in AAI15035 (PubMed:15489334).Curated1
Sequence conflicti1016S → E AA sequence (PubMed:1677636).Curated1
Sequence conflicti1022V → T AA sequence (PubMed:1677636).Curated1
Sequence conflicti1155A → V in AAI15035 (PubMed:15489334).Curated1
Sequence conflicti1203E → Q in CAA45140 (PubMed:1353958).Curated1
Sequence conflicti1782V → I in AAI15035 (PubMed:15489334).Curated1
Sequence conflicti1825N → S in AAI16453 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02536715V → F4 PublicationsCorresponds to variant dbSNP:rs9290264EnsemblClinVar.1
Natural variantiVAR_025368117Q → R in CSID; missorting of the enzyme to the basolateral membrane. 1 PublicationCorresponds to variant dbSNP:rs121912612EnsemblClinVar.1
Natural variantiVAR_025369231T → A5 PublicationsCorresponds to variant dbSNP:rs9283633EnsemblClinVar.1
Natural variantiVAR_025370341L → P in CSID; causes loss of anchored SI from the membrane. 1 PublicationCorresponds to variant dbSNP:rs267607049EnsemblClinVar.1
Natural variantiVAR_025371577V → G in CSID. 1 PublicationCorresponds to variant dbSNP:rs121912615EnsemblClinVar.1
Natural variantiVAR_025372594S → P in CSID. 1 PublicationCorresponds to variant dbSNP:rs765433197Ensembl.1
Natural variantiVAR_025373620L → P in CSID; SI accumulates predominantly in the ER. 1 PublicationCorresponds to variant dbSNP:rs121912613EnsemblClinVar.1
Natural variantiVAR_025374694T → P in CSID. 1 Publication1
Natural variantiVAR_0253751073G → D in CSID. 1 PublicationCorresponds to variant dbSNP:rs121912616EnsemblClinVar.1
Natural variantiVAR_0078541098Q → P in CSID; exhibits intracellular accumulation of mannose-rich SI in the Golgi. 1 PublicationCorresponds to variant dbSNP:rs121912611EnsemblClinVar.1
Natural variantiVAR_0253761229C → Y in CSID. 1 PublicationCorresponds to variant dbSNP:rs121912614EnsemblClinVar.1
Natural variantiVAR_0253771367R → G in CSID. 1 PublicationCorresponds to variant dbSNP:rs143388292EnsemblClinVar.1
Natural variantiVAR_0253781523M → I3 PublicationsCorresponds to variant dbSNP:rs4855271EnsemblClinVar.1
Natural variantiVAR_0253791745F → C in CSID. 1 PublicationCorresponds to variant dbSNP:rs79717168EnsemblClinVar.1
Natural variantiVAR_0345221802T → S. Corresponds to variant dbSNP:rs9917722EnsemblClinVar.1

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
X63597 mRNA Translation: CAA45140.1
AC092695 Genomic DNA No translation available.
AC140119 Genomic DNA No translation available.
AC144561 Genomic DNA No translation available.
BC115034 mRNA Translation: AAI15035.1
BC116452 mRNA Translation: AAI16453.1
BC132834 mRNA Translation: AAI32835.1
BC132860 mRNA Translation: AAI32861.1
M22616 mRNA Translation: AAA60551.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3196.1

Protein sequence database of the Protein Information Resource

More...
PIRi
S36082 UUHU

NCBI Reference Sequences

More...
RefSeqi
NP_001032.2, NM_001041.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.429596

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000264382; ENSP00000264382; ENSG00000090402

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6476

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6476

UCSC genome browser

More...
UCSCi
uc003fei.3 human

Keywords - Coding sequence diversityi

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
X63597 mRNA Translation: CAA45140.1
AC092695 Genomic DNA No translation available.
AC140119 Genomic DNA No translation available.
AC144561 Genomic DNA No translation available.
BC115034 mRNA Translation: AAI15035.1
BC116452 mRNA Translation: AAI16453.1
BC132834 mRNA Translation: AAI32835.1
BC132860 mRNA Translation: AAI32861.1
M22616 mRNA Translation: AAA60551.1
CCDSiCCDS3196.1
PIRiS36082 UUHU
RefSeqiNP_001032.2, NM_001041.3
UniGeneiHs.429596

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3LPOX-ray3.20A/B/C/D62-931[»]
3LPPX-ray2.15A/B/C/D62-931[»]
ProteinModelPortaliP14410
SMRiP14410
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000264382

Chemistry databases

BindingDBiP14410
ChEMBLiCHEMBL2748
DrugBankiDB00284 Acarbose
DB00747 Scopolamine

Protein family/group databases

CAZyiGH31 Glycoside Hydrolase Family 31

PTM databases

iPTMnetiP14410
PhosphoSitePlusiP14410

Polymorphism and mutation databases

BioMutaiSI
DMDMi317373594

Proteomic databases

jPOSTiP14410
MaxQBiP14410
PaxDbiP14410
PeptideAtlasiP14410
PRIDEiP14410
ProteomicsDBi53051

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264382; ENSP00000264382; ENSG00000090402
GeneIDi6476
KEGGihsa:6476
UCSCiuc003fei.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6476
DisGeNETi6476
EuPathDBiHostDB:ENSG00000090402.7

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SI

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0030867
HGNCiHGNC:10856 SI
HPAiHPA011897
MalaCardsiSI
MIMi222900 phenotype
609845 gene
neXtProtiNX_P14410
OpenTargetsiENSG00000090402
Orphaneti306446 Congenital sucrase-isomaltase deficiency with minimal starch tolerance
306474 Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
306436 Congenital sucrase-isomaltase deficiency with starch intolerance
306462 Congenital sucrase-isomaltase deficiency without starch intolerance
306486 Congenital sucrase-isomaltase deficiency without sucrose intolerance
PharmGKBiPA35758

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1065 Eukaryota
COG1501 LUCA
GeneTreeiENSGT00940000161633
HOGENOMiHOG000067936
HOVERGENiHBG080721
InParanoidiP14410
KOiK01203
OMAiFHPYYMA
OrthoDBi151244at2759
PhylomeDBiP14410
TreeFamiTF314577

Enzyme and pathway databases

BioCyciMetaCyc:HS01688-MONOMER
BRENDAi3.2.1.10 2681
3.2.1.48 2681
ReactomeiR-HSA-189085 Digestion of dietary carbohydrate
R-HSA-5659898 Intestinal saccharidase deficiencies

Miscellaneous databases

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

More...
ChiTaRSi
SI human
EvolutionaryTraceiP14410

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

More...
GenomeRNAii
6476

Protein Ontology

More...
PROi
PR:P14410

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000090402 Expressed in 41 organ(s), highest expression level in jejunal mucosa
CleanExiHS_SI
ExpressionAtlasiP14410 baseline and differential
GenevisibleiP14410 HS

Family and domain databases

CDDicd00111 Trefoil, 2 hits
Gene3Di2.60.40.1180, 4 hits
InterProiView protein in InterPro
IPR031727 Gal_mutarotase_N
IPR011013 Gal_mutarotase_sf_dom
IPR000322 Glyco_hydro_31
IPR030458 Glyco_hydro_31_AS
IPR030459 Glyco_hydro_31_CS
IPR013780 Glyco_hydro_b
IPR017853 Glycoside_hydrolase_SF
IPR017957 P_trefoil_CS
IPR000519 P_trefoil_dom
PfamiView protein in Pfam
PF01055 Glyco_hydro_31, 2 hits
PF16863 NtCtMGAM_N, 2 hits
PF00088 Trefoil, 2 hits
SMARTiView protein in SMART
SM00018 PD, 2 hits
SUPFAMiSSF51445 SSF51445, 2 hits
SSF74650 SSF74650, 2 hits
PROSITEiView protein in PROSITE
PS00129 GLYCOSYL_HYDROL_F31_1, 2 hits
PS00707 GLYCOSYL_HYDROL_F31_2, 2 hits
PS00025 P_TREFOIL_1, 1 hit
PS51448 P_TREFOIL_2, 2 hits

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 nameiSUIS_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: P14410
Secondary accession number(s): A2RUC3, Q1JQ80, Q1RMC2
<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: January 1, 1990
Last sequence update: January 11, 2011
Last modified: January 16, 2019
This is version 189 of the entry and version 6 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

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