Lct lactase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lctprovided by MGI
Official Full Name: lactaseprovided by MGI
Primary source: MGI:MGI:104576
See related: Ensembl:ENSMUSG00000026354 AllianceGenome:MGI:104576
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: LAC; LPH; Lphl; Gm100
Summary: Predicted to enable hydrolase activity, hydrolyzing O-glycosyl compounds; protein homodimerization activity; and transferase activity. Predicted to be involved in several processes, including disaccharide catabolic process; glycosylceramide catabolic process; and quercetin catabolic process. Predicted to be located in brush border and external side of apical plasma membrane. Human ortholog(s) of this gene implicated in congenital lactase deficiency. Orthologous to human LCT (lactase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in duodenum adult (RPKM 123.5), small intestine adult (RPKM 101.4) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 1 E3; 1 55.8 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (128212493..128256055, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (128284756..128328318, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epigenetic signatures at enhancer and promoter elements aligns with transcriptional variation of Lct in enterocytes.
Title: Transcriptional heterogeneity in the lactase gene within cell-type is linked to the epigenome.
Genetic factors contribute to epigenetic changes occurring with age at the regulatory elements, because lactase-persistence and lactase-nonpersistence DNA haplotypes demonstrated markedly different epigenetic aging.
Title: Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging.
Data found transport defects of the intestinal brush border hydrolases lactase-phlorizin hydrolase (LPH) in galectin-3-null mutant mice, showing that it directly interact with galectin-3 and transit through non-raft-dependent apical transport platforms.
Title: Loss of galectin-3 impairs membrane polarisation of mouse enterocytes in vivo.
Inactivation of Gata4 had no effect on LPH gene expression, whereas inactivation of Hnf1alpha resulted in a 50% reduction in LPH gene expression during either cytodifferentiation or suckling.
Title: Gata4 and Hnf1alpha are partially required for the expression of specific intestinal genes during development.
Lactase gene promoter fragments mediate differential spatial and temporal expression patterns in transgenic mice.
Title: Lactase gene promoter fragments mediate differential spatial and temporal expression patterns in transgenic mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2)

General gene information

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Markers

Lct (e-PCR), detects polymorphism
- UniSTS:546838

RH126396 (e-PCR)
- UniSTS:163104

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables beta-glucosidase activity	ISO Inferred from Sequence Orthology more info
enables galactosylceramidase activity	ISO Inferred from Sequence Orthology more info
enables glucosylceramidase activity	ISO Inferred from Sequence Orthology more info
enables lactase activity	IBA Inferred from Biological aspect of Ancestor more info
enables lactase activity	ISO Inferred from Sequence Orthology more info
enables phlorizin hydrolase activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cellobiose catabolic process	ISO Inferred from Sequence Orthology more info
involved_in glycosylceramide catabolic process	ISO Inferred from Sequence Orthology more info
involved_in lactose catabolic process	ISO Inferred from Sequence Orthology more info
involved_in quercetin catabolic process	ISO Inferred from Sequence Orthology more info
involved_in response to ethanol	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	ISO Inferred from Sequence Orthology more info
involved_in response to iron(II) ion	ISO Inferred from Sequence Orthology more info
involved_in response to lead ion	ISO Inferred from Sequence Orthology more info
involved_in response to nickel cation	ISO Inferred from Sequence Orthology more info
involved_in response to nutrient	ISO Inferred from Sequence Orthology more info
involved_in response to xenobiotic stimulus	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in brush border	ISO Inferred from Sequence Orthology more info
located_in external side of apical plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: lactase/phlorizin hydrolase

Names: lactase-phlorizin hydrolase

NP_001074547.1

EC 3.2.1.108

EC 3.2.1.62

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001081078.2 → NP_001074547.1 lactase/phlorizin hydrolase preproprotein

See identical proteins and their annotated locations for NP_001074547.1

Status: VALIDATED

Source sequence(s)

AC161809

Consensus CDS

CCDS35698.1

UniProtKB/TrEMBL

F8VPT3

Related

ENSMUSP00000073190.7, ENSMUST00000073490.7

Conserved Domains (2) summary

pfam00232
Location:1377 → 1844

Glyco_hydro_1; Glycosyl hydrolase family 1

cl23725
Location:380 → 849

Glyco_hydro_1; Glycosyl hydrolase family 1