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LCT Gene(Protein Coding)

Lactase

GCID:
GC02M135787
GIFtS:
54
Genes Participants
UDN Logo

Aliases for LCT Gene

Aliases for LCT Gene

  • Lactase 2 3 5
  • Lactase-Glycosylceramidase 3 4
  • LPH 3 4
  • Lactase-Phlorizin Hydrolase-1 3
  • Lactase-Phlorizin Hydrolase 3
  • EC 3.2.1 56
  • LPH1 3
  • LAC 3

External Ids for LCT Gene

Previous GeneCards Identifiers for LCT Gene

  • GC02M134200
  • GC02M134843
  • GC02M136567
  • GC02M136756
  • GC02M136379
  • GC02M136261
  • GC02M128538

Summaries for LCT Gene

Entrez Gene Summary for LCT Gene

  • The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]

GeneCards Summary for LCT Gene

LCT (Lactase) is a Protein Coding gene. Diseases associated with LCT include Lactase Deficiency, Congenital and Lactose Intolerance. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and lactase activity. An important paralog of this gene is KLB.

UniProtKB/Swiss-Prot for LCT Gene

  • LPH splits lactose in the small intestine.

Additional gene information for LCT Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LCT Gene

Genomics for LCT Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for LCT Gene

Promoters and enhancers for LCT Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02I135836 Promoter/Enhancer 0.7 EPDnew ENCODE 550.8 +0.5 471 1.2 LCT DARS MCM6 GC02P135821 GC02M135791
GH02I135797 Enhancer 1 Ensembl ENCODE 12.8 +39.5 39480 0.6 PKNOX1 CLOCK ATF1 RB1 ARID4B SIN3A RAD21 EGR1 ZNF143 RUNX3 LOC100507600 LCT MCM6 MAP3K19 RAB3GAP1 DARS GC02M135782 GC02M135811 ENSG00000200664 GC02M135791
GH02I135794 Enhancer 0.7 Ensembl ENCODE 12.7 +42.3 42252 1.1 ZNF639 EGR1 POLR2A NRF1 REST ZBTB33 DARS LOC100507600 LCT MAP3K19 RAB3GAP1 MCM6 UBXN4 GC02M135782 ENSG00000200664 GC02M135811
GH02I135791 Enhancer 0.6 ENCODE 12.7 +45.0 44951 1.6 MAFG EBF1 BATF RFX5 YY1 ZNF316 IKZF1 NBN HNF4A EMSY LOC100507600 LCT RAB3GAP1 MAP3K19 UBXN4 GC02M135782 ENSG00000200664 GC02M135811 GC02M135791
GH02I135904 Enhancer 0.6 ENCODE 11.2 -67.3 -67309 0.7 USF2 MAFG BACH1 MITF FOSL1 ZNF316 NFE2 EMSY MAFK GC02P135903 LCT DARS-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LCT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LCT gene promoter:

Genomic Locations for LCT Gene

Genomic Locations for LCT Gene
chr2:135,787,840-135,837,180
(GRCh38/hg38)
Size:
49,341 bases
Orientation:
Minus strand
chr2:136,545,410-136,594,750
(GRCh37/hg19)

Genomic View for LCT Gene

Genes around LCT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LCT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LCT Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for LCT Gene

Proteins for LCT Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for LCT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09848-LPH_HUMAN
    Recommended name:
    Lactase-phlorizin hydrolase
    Protein Accession:
    P09848
    Secondary Accessions:
    • Q4ZG58

    Protein attributes for LCT Gene

    Size:
    1927 amino acids
    Molecular mass:
    218587 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LCT Gene

Protein Expression for LCT Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for LCT Gene

P09848:
  • FPEGFLWG
  • YRFSISW
  • VTLFHWD

Post-translational modifications for LCT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LCT Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for LCT Gene

Gene Families for LCT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for LCT Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for LCT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P09848

UniProtKB/Swiss-Prot:

LPH_HUMAN :
  • The sequence exhibits 4 regions (I-IV) of internal homology; therefore LPH might have evolved by two cycles of partial gene duplication.
  • Belongs to the glycosyl hydrolase 1 family.
Domain:
  • The sequence exhibits 4 regions (I-IV) of internal homology; therefore LPH might have evolved by two cycles of partial gene duplication.
Family:
  • Belongs to the glycosyl hydrolase 1 family.
genes like me logo Genes that share domains with LCT: view

Function for LCT Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for LCT Gene

GENATLAS Biochemistry:
lactase/phlorizin hydrolase,beta-galactosidase from intestinal mucosa
UniProtKB/Swiss-Prot CatalyticActivity:
Lactose + H(2)O = D-galactose + D-glucose.
UniProtKB/Swiss-Prot CatalyticActivity:
Glycosyl-N-acylsphingosine + H(2)O = N-acylsphingosine + a sugar.
UniProtKB/Swiss-Prot Function:
LPH splits lactose in the small intestine.

Enzyme Numbers (IUBMB) for LCT Gene

Phenotypes From GWAS Catalog for LCT Gene

Gene Ontology (GO) - Molecular Function for LCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000016 lactase activity TAS --
GO:0003824 catalytic activity IEA --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0008422 beta-glucosidase activity IBA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with LCT: view
genes like me logo Genes that share phenotypes with LCT: view

Human Phenotype Ontology for LCT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for LCT Gene

miRTarBase miRNAs that target LCT

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LCT

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for LCT Gene

Localization for LCT Gene

Subcellular locations from UniProtKB/Swiss-Prot for LCT Gene

Apical cell membrane; Single-pass type I membrane protein. Note=Brush border.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LCT gene
Compartment Confidence
plasma membrane 5
extracellular 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
peroxisome 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2460343
GO:0016020 membrane TAS 2460343
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with LCT: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LCT Gene

Pathways & Interactions for LCT Gene

genes like me logo Genes that share pathways with LCT: view

Pathways by source for LCT Gene

1 GeneGo (Thomson Reuters) pathway for LCT Gene

Gene Ontology (GO) - Biological Process for LCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0044245 polysaccharide digestion TAS --
GO:1901657 glycosyl compound metabolic process IBA --
genes like me logo Genes that share ontologies with LCT: view

No data available for SIGNOR curated interactions for LCT Gene

Drugs & Compounds for LCT Gene

Products:

  1. Drug

(23) Drugs for LCT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra Target 581,581
Galactose Approved, Investigational Pharma 0
lactose Approved, Investigational Pharma 0
Gluconolactone Approved, Experimental Pharma Target 0
D-glucose Approved Pharma 0

(54) Additional Compounds for LCT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Keto-b-D-galactose
  • 3-Dehydro-beta-D-galactose
  • 3-Dehydro-beta-delta-galactose
  • 3-Keto-beta-D-galactose
  • 3-Keto-beta-delta-galactose
3'-Ketolactose
  • 3'-Dehydro-beta-D-galactosyl-beta-D-glucopyranoside
  • 3'-Dehydro-beta-delta-galactosyl-beta-delta-glucopyranoside
  • 3'-Ketolactose
 15990-62-2
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
 492-62-6
Beta-D-Galactose
  • b-D-Galactose
  • b-Galactose
  • beta D-Galactose
  • beta-D-Galactopyranose
  • beta-D-Galactose
 7296-64-2
beta-Lactose
  • beta-D-Galactopyranosyl-(1->4)-beta-D-glucopyranose
  • beta-D-Galactopyranosyl-(1->4)-beta-D-glucose
  • beta-Lactose
 5965-66-2
genes like me logo Genes that share compounds with LCT: view

Transcripts for LCT Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for LCT Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LCT Gene

Lactase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LCT

Alternative Splicing Database (ASD) splice patterns (SP) for LCT Gene

No ASD Table

Relevant External Links for LCT Gene

GeneLoc Exon Structure for
LCT
ECgene alternative splicing isoforms for
LCT

Expression for LCT Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LCT Gene

mRNA expression in normal human tissues for LCT Gene
mRNA expression by BioGPS for LCT GenemRNA expression by GTEx for LCT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LCT Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x33.1).

Protein differential expression in normal tissues from HIPED for LCT Gene

This gene is overexpressed in Pancreatic juice (68.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LCT Gene



Protein tissue co-expression partners for LCT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LCT Gene:

LCT

SOURCE GeneReport for Unigene cluster for LCT Gene:

Hs.551506

mRNA Expression by UniProt/SwissProt for LCT Gene:

P09848-LPH_HUMAN
Tissue specificity: Intestine.

Evidence on tissue expression from TISSUES for LCT Gene

  • Intestine(3.7)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LCT Gene

Germ Layers:
  • endoderm
Systems:
  • digestive
Regions:
Abdomen:
  • duodenum
  • intestine
  • large intestine
  • small intestine
genes like me logo Genes that share expression patterns with LCT: view

Primer Products

Orthologs for LCT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LCT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia LCT 33 34
  • 99.01 (n)
dog
(Canis familiaris)
 Mammalia LCT 33 34
  • 86.92 (n)
cow
(Bos Taurus)
 Mammalia LCT 33 34
  • 85.28 (n)
mouse
(Mus musculus)
 Mammalia Lct 33 16 34
  • 80.23 (n)
rat
(Rattus norvegicus)
 Mammalia Lct 33
  • 79.68 (n)
oppossum
(Monodelphis domestica)
 Mammalia LCT 34
  • 72 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia LCT 34
  • 67 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves LCT 33 34
  • 65.14 (n)
lizard
(Anolis carolinensis)
 Reptilia LCT 34
  • 61 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia lct.2 33
  • 63.75 (n)
zebrafish
(Danio rerio)
 Actinopterygii lct 33 34
  • 58.75 (n)
SI:DKEY-79P17.2 34
  • 54 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG9701 35 34
  • 46 (a)
worm
(Caenorhabditis elegans)
 Secernentea E02H9.5 35
  • 35 (a)
klo-1 34
  • 34 (a)
 ManyToMany
klo-2 34
  • 34 (a)
 ManyToMany
C50F7.10 35
  • 33 (a)
soybean
(Glycine max)
 eudicotyledons Gma.16515 33
rice
(Oryza sativa)
 Liliopsida Os.35044 33
wheat
(Triticum aestivum)
 Liliopsida Ta.4035 33
corn
(Zea mays)
 Liliopsida Zm.418 33
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 53 (a)
 ManyToMany
-- 34
  • 51 (a)
 ManyToMany
-- 34
  • 45 (a)
 ManyToMany
Species where no ortholog for LCT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for LCT Gene

ENSEMBL:
Gene Tree for LCT (if available)
TreeFam:
Gene Tree for LCT (if available)

Paralogs for LCT Gene

Paralogs for LCT Gene

(4) SIMAP similar genes for LCT Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with LCT: view

Variants for LCT Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for LCT Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1042712 benign, Lactose intolerance, Congenital lactase deficiency 135,788,274(-) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs114525655 likely-benign, Congenital lactase deficiency, Lactose intolerance 135,836,716(-) C/G/T coding_sequence_variant, missense_variant
rs114815229 uncertain-significance, Lactose intolerance, Congenital lactase deficiency 135,809,341(-) C/T coding_sequence_variant, synonymous_variant
rs114828879 likely-benign, Lactose intolerance, Congenital lactase deficiency 135,788,340(-) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs115690016 likely-benign, Congenital lactase deficiency, Lactose intolerance 135,809,633(-) T/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for LCT Gene

Variant ID Type Subtype PubMed ID
esv3592582 CNV gain 21293372
nsv1116797 CNV deletion 24896259
nsv1123397 CNV deletion 24896259
nsv2942 CNV insertion 18451855
nsv471870 CNV novel sequence insertion 20440878
nsv480348 CNV novel sequence insertion 20440878
nsv819525 CNV gain 19587683

Variation tolerance for LCT Gene

Residual Variation Intolerance Score: 7.97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.69; 93.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LCT Gene

Human Gene Mutation Database (HGMD)
LCT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LCT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LCT Gene

Disorders for LCT Gene

MalaCards: The human disease database

(10) MalaCards diseases for LCT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lactase deficiency, congenital
  • alactasia, congenital
lactose intolerance
  • lm - lactose malabsorption
lactose intolerance, adult type
  • hypolactasia, adult type
neonatal thyrotoxicosis
osmotic diarrhea
- elite association - COSMIC cancer census association via MalaCards
Search LCT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LPH_HUMAN
  • Congenital lactase deficiency (COLACD) [MIM:223000]: Autosomal 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. {ECO:0000269 PubMed:16400612}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LCT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LCT: view

No data available for Genatlas for LCT Gene

Publications for LCT Gene

  1. Identification of a variant associated with adult-type hypolactasia. (PMID: 11788828) Enattah NS … Järvelä I (Nature genetics 2002) 3 4 22 44 58
  2. Evaluation of a novel reverse-hybridization StripAssay for typing DNA variants useful in diagnosis of adult-type hypolactasia. (PMID: 18396155) Tag CG … Weiskirchen R (Clinica chimica acta; international journal of clinical chemistry 2008) 3 22 44 58
  3. Synergistic effect of high lactase activity genotype and galactose-1-phosphate uridyl transferase (GALT) mutations on idiopathic presenile cataract formation. (PMID: 18454942) Karas-Kuzelicki N … Lukac-Bajalo J (Clinical biochemistry 2008) 3 22 44 58
  4. Genes related to the metabolism of nutrients in the Kola Sami population. (PMID: 18468259) Kozlov A … Yankovsky N (International journal of circumpolar health 2008) 3 22 44 58
  5. Genetic testing for adult-type hypolactasia in Italian families. (PMID: 18605960) Mottes M … Borgna-Pignatti C (Clinical chemistry and laboratory medicine 2008) 3 22 44 58

Products for LCT Gene

  • Addgene plasmids for LCT

Sources for LCT Gene

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