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Protein

Lactase-phlorizin hydrolase

Gene

LCT

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

LPH splits lactose in the small intestine.

<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

  • Glycosyl-N-acylsphingosine + H(2)O = N-acylsphingosine + a sugar. EC:3.2.1.62

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 sitei1065Proton donorSequence analysis1
Active sitei1273NucleophilePROSITE-ProRule annotation1
Active sitei1538Proton donorSequence analysis1
Active sitei1749NucleophilePROSITE-ProRule annotation1

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

  • beta-glucosidase activity Source: GO_Central
  • glycosylceramidase activity Source: UniProtKB-EC
  • lactase activity Source: GO_Central

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

More...
BioCyci
MetaCyc:HS03945-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.2.1.108 2681
3.7.1.4 2681

Reactome - a knowledgebase of biological pathways and processes

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

SIGNOR Signaling Network Open Resource

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SIGNORi
P09848

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GH1 Glycoside Hydrolase Family 1

<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:
Lactase-phlorizin hydrolase
Alternative name(s):
Lactase-glycosylceramidase
Including the following 2 domains:
Phlorizin hydrolase (EC:3.2.1.62)
<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:LCT
Synonyms:LPH
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000115850.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6530 LCT

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603202 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P09848

<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 domaini20 – 1882ExtracellularSequence analysisAdd BLAST1863
<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>Transmembranei1883 – 1901HelicalSequence analysisAdd BLAST19
Topological domaini1902 – 1927CytoplasmicSequence analysisAdd BLAST26

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 lactase deficiency (COLACD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive, rare and severe gastrointestinal disorder. It is characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. An almost total lack of LCT activity is found in jejunal biopsy material of patients with congenital lactase deficiency. Opposite to congenital lactase deficiency, also known as lactose intolerance, is the most common enzyme deficiency worldwide. It is caused by developmental down-regulation of lactase activity during childhood or early adulthood. The decline of lactase activity is a normal physiological phenomenon; however, the majority of Northern Europeans have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence). The down-regulation of lactase activity operates at the transcriptional level and it is associated with a noncoding variation in the MCM6 gene, located in the upstream vicinity of LCT.
See also OMIM:223000
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_026706268Q → H in COLACD. 1 PublicationCorresponds to variant dbSNP:rs121908937EnsemblClinVar.1
Natural variantiVAR_0267081363G → S in COLACD. 1 PublicationCorresponds to variant dbSNP:rs386833833EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3938

MalaCards human disease database

More...
MalaCardsi
LCT
MIMi223000 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000115850

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

More...
Orphaneti
53690 Congenital lactase deficiency
319681 NON RARE IN EUROPE: Lactase non-persistence in adulthood

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30315

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1075131

Drug and drug target database

More...
DrugBanki
DB04282 2-deoxy-2-fluoro-Alpha-D-glucose
DB03389 alpha-D-Xylopyranose
DB04779 ETHYL (1E)-2-PHENYL-N-(SULFOOXY)ETHANIMIDOTHIOATE
DB04564 Gluconolactone
DB02471 Nojirimycine Tetrazole
DB00126 Vitamin C

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LCT

Domain mapping of disease mutations (DMDM)

More...
DMDMi
311033425

<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 – 19Add BLAST19
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000001176720 – 868Beta-glucosidaseBy similarityAdd BLAST849
<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_0000011768869 – 1927Lactase-phlorizin hydrolaseAdd BLAST1059

Keywords - PTMi

Zymogen

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P09848

MaxQB - The MaxQuant DataBase

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MaxQBi
P09848

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

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PaxDbi
P09848

PeptideAtlas

More...
PeptideAtlasi
P09848

PRoteomics IDEntifications database

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PRIDEi
P09848

ProteomicsDB human proteome resource

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ProteomicsDBi
52269

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P09848

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

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PhosphoSitePlusi
P09848

<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

Intestine.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000115850 Expressed in 17 organ(s), highest expression level in jejunal mucosa

CleanEx database of gene expression profiles

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CleanExi
HS_LCT

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P09848 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P09848 HS

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110130, 2 interactors

Protein interaction database and analysis system

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IntActi
P09848, 1 interactor

Molecular INTeraction database

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MINTi
P09848

STRING: functional protein association networks

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STRINGi
9606.ENSP00000264162

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P09848

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P09848

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

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SMRi
P09848

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati87 – 1721Add BLAST86
Repeati363 – 8482Add BLAST486
Repeati884 – 13653Add BLAST482
Repeati1370 – 18414Add BLAST472

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>Regioni87 – 18414 X approximate repeatsAdd BLAST1755

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The sequence exhibits 4 regions (I-IV) of internal homology; therefore LPH might have evolved by two cycles of partial gene duplication.

<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 1 family.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0626 Eukaryota
COG2723 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155324

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000024957

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG006290

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P09848

KEGG Orthology (KO)

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KOi
K01229

Identification of Orthologs from Complete Genome Data

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OMAi
KSAYFFT

Database of Orthologous Groups

More...
OrthoDBi
408001at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P09848

TreeFam database of animal gene trees

More...
TreeFami
TF314803

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001360 Glyco_hydro_1
IPR018120 Glyco_hydro_1_AS
IPR033132 Glyco_hydro_1_N_CS
IPR017853 Glycoside_hydrolase_SF

The PANTHER Classification System

More...
PANTHERi
PTHR10353 PTHR10353, 7 hits

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00232 Glyco_hydro_1, 4 hits

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00131 GLHYDRLASE1

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51445 SSF51445, 4 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00572 GLYCOSYL_HYDROL_F1_1, 2 hits
PS00653 GLYCOSYL_HYDROL_F1_2, 3 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

P09848-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MELSWHVVFI ALLSFSCWGS DWESDRNFIS TAGPLTNDLL HNLSGLLGDQ
60 70 80 90 100
SSNFVAGDKD MYVCHQPLPT FLPEYFSSLH ASQITHYKVF LSWAQLLPAG
110 120 130 140 150
STQNPDEKTV QCYRRLLKAL KTARLQPMVI LHHQTLPAST LRRTEAFADL
160 170 180 190 200
FADYATFAFH SFGDLVGIWF TFSDLEEVIK ELPHQESRAS QLQTLSDAHR
210 220 230 240 250
KAYEIYHESY AFQGGKLSVV LRAEDIPELL LEPPISALAQ DTVDFLSLDL
260 270 280 290 300
SYECQNEASL RQKLSKLQTI EPKVKVFIFN LKLPDCPSTM KNPASLLFSL
310 320 330 340 350
FEAINKDQVL TIGFDINEFL SCSSSSKKSM SCSLTGSLAL QPDQQQDHET
360 370 380 390 400
TDSSPASAYQ RIWEAFANQS RAERDAFLQD TFPEGFLWGA STGAFNVEGG
410 420 430 440 450
WAEGGRGVSI WDPRRPLNTT EGQATLEVAS DSYHKVASDV ALLCGLRAQV
460 470 480 490 500
YKFSISWSRI FPMGHGSSPS LPGVAYYNKL IDRLQDAGIE PMATLFHWDL
510 520 530 540 550
PQALQDHGGW QNESVVDAFL DYAAFCFSTF GDRVKLWVTF HEPWVMSYAG
560 570 580 590 600
YGTGQHPPGI SDPGVASFKV AHLVLKAHAR TWHHYNSHHR PQQQGHVGIV
610 620 630 640 650
LNSDWAEPLS PERPEDLRAS ERFLHFMLGW FAHPVFVDGD YPATLRTQIQ
660 670 680 690 700
QMNRQCSHPV AQLPEFTEAE KQLLKGSADF LGLSHYTSRL ISNAPQNTCI
710 720 730 740 750
PSYDTIGGFS QHVNHVWPQT SSSWIRVVPW GIRRLLQFVS LEYTRGKVPI
760 770 780 790 800
YLAGNGMPIG ESENLFDDSL RVDYFNQYIN EVLKAIKEDS VDVRSYIARS
810 820 830 840 850
LIDGFEGPSG YSQRFGLHHV NFSDSSKSRT PRKSAYFFTS IIEKNGFLTK
860 870 880 890 900
GAKRLLPPNT VNLPSKVRAF TFPSEVPSKA KVVWEKFSSQ PKFERDLFYH
910 920 930 940 950
GTFRDDFLWG VSSSAYQIEG AWDADGKGPS IWDNFTHTPG SNVKDNATGD
960 970 980 990 1000
IACDSYHQLD ADLNMLRALK VKAYRFSISW SRIFPTGRNS SINSHGVDYY
1010 1020 1030 1040 1050
NRLINGLVAS NIFPMVTLFH WDLPQALQDI GGWENPALID LFDSYADFCF
1060 1070 1080 1090 1100
QTFGDRVKFW MTFNEPMYLA WLGYGSGEFP PGVKDPGWAP YRIAHAVIKA
1110 1120 1130 1140 1150
HARVYHTYDE KYRQEQKGVI SLSLSTHWAE PKSPGVPRDV EAADRMLQFS
1160 1170 1180 1190 1200
LGWFAHPIFR NGDYPDTMKW KVGNRSELQH LATSRLPSFT EEEKRFIRAT
1210 1220 1230 1240 1250
ADVFCLNTYY SRIVQHKTPR LNPPSYEDDQ EMAEEEDPSW PSTAMNRAAP
1260 1270 1280 1290 1300
WGTRRLLNWI KEEYGDIPIY ITENGVGLTN PNTEDTDRIF YHKTYINEAL
1310 1320 1330 1340 1350
KAYRLDGIDL RGYVAWSLMD NFEWLNGYTV KFGLYHVDFN NTNRPRTARA
1360 1370 1380 1390 1400
SARYYTEVIT NNGMPLARED EFLYGRFPEG FIWSAASAAY QIEGAWRADG
1410 1420 1430 1440 1450
KGLSIWDTFS HTPLRVENDA IGDVACDSYH KIAEDLVTLQ NLGVSHYRFS
1460 1470 1480 1490 1500
ISWSRILPDG TTRYINEAGL NYYVRLIDTL LAASIQPQVT IYHWDLPQTL
1510 1520 1530 1540 1550
QDVGGWENET IVQRFKEYAD VLFQRLGDKV KFWITLNEPF VIAYQGYGYG
1560 1570 1580 1590 1600
TAAPGVSNRP GTAPYIVGHN LIKAHAEAWH LYNDVYRASQ GGVISITISS
1610 1620 1630 1640 1650
DWAEPRDPSN QEDVEAARRY VQFMGGWFAH PIFKNGDYNE VMKTRIRDRS
1660 1670 1680 1690 1700
LAAGLNKSRL PEFTESEKRR INGTYDFFGF NHYTTVLAYN LNYATAISSF
1710 1720 1730 1740 1750
DADRGVASIA DRSWPDSGSF WLKMTPFGFR RILNWLKEEY NDPPIYVTEN
1760 1770 1780 1790 1800
GVSQREETDL NDTARIYYLR TYINEALKAV QDKVDLRGYT VWSAMDNFEW
1810 1820 1830 1840 1850
ATGFSERFGL HFVNYSDPSL PRIPKASAKF YASVVRCNGF PDPATGPHAC
1860 1870 1880 1890 1900
LHQPDAGPTI SPVRQEEVQF LGLMLGTTEA QTALYVLFSL VLLGVCGLAF
1910 1920
LSYKYCKRSK QGKTQRSQQE LSPVSSF
Length:1,927
Mass (Da):218,587
Last modified:November 2, 2010 - 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:i2FCD55CB47BBA35A
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
H0Y4E4H0Y4E4_HUMAN
Lactase-phlorizin hydrolase
LCT
1,003Annotation 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 conflicti1096A → T in CAA30801 (PubMed:2460343).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055882190S → L. Corresponds to variant dbSNP:rs35156533Ensembl.1
Natural variantiVAR_026705219V → I1 PublicationCorresponds to variant dbSNP:rs3754689EnsemblClinVar.1
Natural variantiVAR_026706268Q → H in COLACD. 1 PublicationCorresponds to variant dbSNP:rs121908937EnsemblClinVar.1
Natural variantiVAR_026707362I → V2 PublicationsCorresponds to variant dbSNP:rs4954449EnsemblClinVar.1
Natural variantiVAR_0267081363G → S in COLACD. 1 PublicationCorresponds to variant dbSNP:rs386833833EnsemblClinVar.1
Natural variantiVAR_0558831593V → M. Corresponds to variant dbSNP:rs35891837EnsemblClinVar.1
Natural variantiVAR_0267091639N → S1 PublicationCorresponds to variant dbSNP:rs2322659EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
X07994 mRNA Translation: CAA30801.1
M61850
, M61834, M61835, M61836, M61837, M61838, M61839, M61840, M61841, M61842, M61843, M61844, M61845, M61846, M61847, M61848, M61849 Genomic DNA Translation: AAA59504.1
AC011893 Genomic DNA Translation: AAX88924.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2178.1

Protein sequence database of the Protein Information Resource

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PIRi
S01168

NCBI Reference Sequences

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RefSeqi
NP_002290.2, NM_002299.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.551506

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000264162; ENSP00000264162; ENSG00000115850

Database of genes from NCBI RefSeq genomes

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GeneIDi
3938

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3938

UCSC genome browser

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UCSCi
uc002tuu.2 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Lactase entry

Protein Spotlight

Darwin's dessert - Issue 111 of November 2009

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X07994 mRNA Translation: CAA30801.1
M61850
, M61834, M61835, M61836, M61837, M61838, M61839, M61840, M61841, M61842, M61843, M61844, M61845, M61846, M61847, M61848, M61849 Genomic DNA Translation: AAA59504.1
AC011893 Genomic DNA Translation: AAX88924.1
CCDSiCCDS2178.1
PIRiS01168
RefSeqiNP_002290.2, NM_002299.3
UniGeneiHs.551506

3D structure databases

ProteinModelPortaliP09848
SMRiP09848
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110130, 2 interactors
IntActiP09848, 1 interactor
MINTiP09848
STRINGi9606.ENSP00000264162

Chemistry databases

BindingDBiP09848
ChEMBLiCHEMBL1075131
DrugBankiDB04282 2-deoxy-2-fluoro-Alpha-D-glucose
DB03389 alpha-D-Xylopyranose
DB04779 ETHYL (1E)-2-PHENYL-N-(SULFOOXY)ETHANIMIDOTHIOATE
DB04564 Gluconolactone
DB02471 Nojirimycine Tetrazole
DB00126 Vitamin C

Protein family/group databases

CAZyiGH1 Glycoside Hydrolase Family 1

PTM databases

iPTMnetiP09848
PhosphoSitePlusiP09848

Polymorphism and mutation databases

BioMutaiLCT
DMDMi311033425

Proteomic databases

jPOSTiP09848
MaxQBiP09848
PaxDbiP09848
PeptideAtlasiP09848
PRIDEiP09848
ProteomicsDBi52269

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264162; ENSP00000264162; ENSG00000115850
GeneIDi3938
KEGGihsa:3938
UCSCiuc002tuu.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3938
DisGeNETi3938
EuPathDBiHostDB:ENSG00000115850.9

GeneCards: human genes, protein and diseases

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GeneCardsi
LCT

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0030024
HIX0117702
HGNCiHGNC:6530 LCT
MalaCardsiLCT
MIMi223000 phenotype
603202 gene
neXtProtiNX_P09848
OpenTargetsiENSG00000115850
Orphaneti53690 Congenital lactase deficiency
319681 NON RARE IN EUROPE: Lactase non-persistence in adulthood
PharmGKBiPA30315

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0626 Eukaryota
COG2723 LUCA
GeneTreeiENSGT00940000155324
HOGENOMiHOG000024957
HOVERGENiHBG006290
InParanoidiP09848
KOiK01229
OMAiKSAYFFT
OrthoDBi408001at2759
PhylomeDBiP09848
TreeFamiTF314803

Enzyme and pathway databases

BioCyciMetaCyc:HS03945-MONOMER
BRENDAi3.2.1.108 2681
3.7.1.4 2681
ReactomeiR-HSA-189085 Digestion of dietary carbohydrate
R-HSA-5659898 Intestinal saccharidase deficiencies
SIGNORiP09848

Miscellaneous databases

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

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ChiTaRSi
LCT human

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

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GenomeRNAii
3938

Protein Ontology

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PROi
PR:P09848

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115850 Expressed in 17 organ(s), highest expression level in jejunal mucosa
CleanExiHS_LCT
ExpressionAtlasiP09848 baseline and differential
GenevisibleiP09848 HS

Family and domain databases

InterProiView protein in InterPro
IPR001360 Glyco_hydro_1
IPR018120 Glyco_hydro_1_AS
IPR033132 Glyco_hydro_1_N_CS
IPR017853 Glycoside_hydrolase_SF
PANTHERiPTHR10353 PTHR10353, 7 hits
PfamiView protein in Pfam
PF00232 Glyco_hydro_1, 4 hits
PRINTSiPR00131 GLHYDRLASE1
SUPFAMiSSF51445 SSF51445, 4 hits
PROSITEiView protein in PROSITE
PS00572 GLYCOSYL_HYDROL_F1_1, 2 hits
PS00653 GLYCOSYL_HYDROL_F1_2, 3 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 nameiLPH_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: P09848
Secondary accession number(s): Q4ZG58
<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: July 1, 1989
Last sequence update: November 2, 2010
Last modified: January 16, 2019
This is version 183 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  7. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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