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Aliases for LCT Gene

Aliases for LCT Gene

  • Lactase 2 3
  • Lactase-Glycosylceramidase 3 4
  • LPH 3 4
  • Lactase-Phlorizin Hydrolase-1 3
  • EC 3.2.1 63
  • 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 family 1 of glycosyl hydrolases. The protein is integral to plasma membrane and has both phlorizin hydrolase activity and lactase activity. [provided by RefSeq, Jul 2008]

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 Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and lactase activity. An important paralog of this gene is GBA3.

UniProtKB/Swiss-Prot for LCT Gene

  • LPH splits lactose in the small intestine

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

Genomics for LCT Gene

Genomic Location for LCT Gene

Chromosome:
2
Start:
135,787,840 bp from pter
End:
135,837,180 bp from pter
Size:
49,341 bases
Orientation:
Minus strand

Genomic View for LCT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LCT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LCT Gene

Proteins for LCT Gene

  • 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

Proteomics data for LCT Gene at MOPED

Selected DME Specific Peptides for LCT Gene

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

Suggested Antigen Peptide Sequences for LCT Gene

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

No data available for Gene Families for LCT Gene

Function for LCT Gene

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

Gene Ontology (GO) - Molecular Function for LCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000016 lactase activity TAS --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds --
GO:0016740 transferase activity IEA --
GO:0017042 glycosylceramidase activity IEA --
genes like me logo Genes that share ontologies with LCT: view

Phenotypes for LCT Gene

GenomeRNAi human phenotypes for LCT:
genes like me logo Genes that share phenotypes with LCT: view

Animal Model Products

miRNA for LCT Gene

miRTarBase miRNAs that target LCT

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LCT

In Situ Assay Products

Flow Cytometry Products

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
Jensen Localization Image for LCT Gene COMPARTMENTS Subcellular localization image for LCT gene
Compartment Confidence
plasma membrane 5
golgi apparatus 2
endoplasmic reticulum 1
extracellular 1
lysosome 1
nucleus 1
vacuole 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:0005903 brush border IEA --
GO:0016020 membrane TAS 2460343
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with LCT: view

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:0001666 response to hypoxia IEA --
GO:0005975 carbohydrate metabolic process TAS --
GO:0007584 response to nutrient IEA --
GO:0009725 response to hormone --
GO:0009744 response to sucrose IEA --
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

(18) Drugs for LCT Gene - From: NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra Target 398,398
Heparin Approved, Investigational Pharma Antagonist 672,226
Hydrocortisone Approved Pharma Agonist 550
lactose Experimental Pharma 0
(1S,2S,3R,4S,5S)-2,3,4-TRIHYDROXY-5-(HYDROXYMETHYL)CYCLOHEXYL (1E)-2-PHENYL-N-(SULFOOXY)ETHANIMIDOTHIOATE Experimental Pharma Target 0

(60) 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

mRNA/cDNA for LCT Gene

(1) 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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LCT

Flow Cytometry Products

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

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for LCT Gene Hs.551506

mRNA Expression by UniProt/SwissProt for LCT Gene

P09848-LPH_HUMAN
Tissue specificity: Intestine
genes like me logo Genes that share expression patterns with LCT: view

Protein tissue co-expression partners for LCT Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia LCT 35
  • 85.28 (n)
  • 83.69 (a)
LCT 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LCT 35
  • 86.92 (n)
  • 86.01 (a)
LCT 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lct 35
  • 80.23 (n)
  • 80.15 (a)
Lct 16
Lct 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LCT 35
  • 99.01 (n)
  • 98.3 (a)
LCT 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lct 35
  • 79.68 (n)
  • 79.37 (a)
oppossum
(Monodelphis domestica)
Mammalia LCT 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LCT 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves LCT 35
  • 65.14 (n)
  • 63.99 (a)
LCT 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LCT 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lct.2 35
  • 63.75 (n)
  • 62.26 (a)
zebrafish
(Danio rerio)
Actinopterygii lct 35
  • 58.75 (n)
  • 55.93 (a)
lct 36
  • 53 (a)
OneToMany
SI:DKEY-79P17.2 36
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9701 37
  • 46 (a)
CG9701 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C50F7.10 37
  • 33 (a)
E02H9.5 37
  • 35 (a)
klo-1 36
  • 34 (a)
ManyToMany
klo-2 36
  • 34 (a)
ManyToMany
soybean
(Glycine max)
eudicotyledons Gma.16515 35
rice
(Oryza sativa)
Liliopsida Os.35044 35
wheat
(Triticum aestivum)
Liliopsida Ta.4035 35
corn
(Zea mays)
Liliopsida Zm.418 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
ManyToMany
-- 36
  • 53 (a)
ManyToMany
-- 36
  • 51 (a)
ManyToMany
Species with no ortholog for LCT:
  • 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

Sequence variations from dbSNP and Humsavar for LCT Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs730005 -- 135,825,124(+) GCTGT(C/T)TGACT intron-variant
rs745500 -- 135,825,622(-) TTCTG(C/T)AGGAG intron-variant
rs746857 -- 135,797,320(+) TGTTG(A/G)GAATT intron-variant
rs748841 -- 135,800,587(+) ACAAG(C/T)GCCCA intron-variant
rs872151 -- 135,799,235(+) GTTTC(C/T)CCCGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv819525 CNV Gain 19587683
nsv2942 CNV Insertion 18451855

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)

Relevant External Links for LCT Gene

HapMap Linkage Disequilibrium report
LCT
Human Gene Mutation Database (HGMD)
LCT

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

Disorders for LCT Gene

MalaCards: The human disease database

(12) MalaCards diseases for LCT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
lactase deficiency, congenital
  • congenital lactase deficiency
lactose intolerance
  • lm - lactose malabsorption
metagonimiasis
  • infection by metagonimus yokogawai
lactase persistence/nonpersistence
  • lactose intolerance, adult type
intestinal disaccharidase deficiency
  • disaccharidase deficiency
- elite association
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.

Relevant External Links for LCT

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

No data available for Genatlas for LCT Gene

Publications for LCT Gene

  1. Structural hierarchy of regulatory elements in the folding and transport of an intestinal multidomain protein. (PMID: 19955176) Behrendt M. … Naim H.Y. (J. Biol. Chem. 2010) 23 67
  2. Utilization of lactose and galactose by Streptococcus mutans: transport, toxicity, and carbon catabolite repression. (PMID: 20190045) Zeng L. … Burne R.A. (J. Bacteriol. 2010) 23 67
  3. Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD). (PMID: 19161632) Torniainen S. … JAorvelAo I. (BMC Gastroenterol 2009) 23 67
  4. Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency. (PMID: 19208354) Behrendt M. … Naim H.Y. (Gastroenterology 2009) 23 67
  5. Genetic testing for adult-type hypolactasia in Italian families. (PMID: 18605960) Mottes M. … Borgna-Pignatti C. (Clin. Chem. Lab. Med. 2008) 23 67

Products for LCT Gene

Sources for LCT Gene

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