Entity Details

Primary name LPH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP09848
EntryNameLPH_HUMAN
FullNameLactase-phlorizin hydrolase
TaxID9606
Evidenceevidence at transcript level
Length1927
SequenceStatuscomplete
DateCreated1989-07-01
DateModified2021-06-02

Ontological Relatives

GenesLCT

GO terms

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GOName
GO:0000016 lactase activity
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005975 carbohydrate metabolic process
GO:0008422 beta-glucosidase activity
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0017042 glycosylceramidase activity
GO:0044245 polysaccharide digestion

Subcellular Location

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Subcellular Location
Apical cell membrane

Domains

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DomainNameCategoryType
IPR001360 Glycoside hydrolase family 1FamilyFamily
IPR017853 Glycoside hydrolase superfamilyFamilyHomologous superfamily
IPR018120 Glycoside hydrolase family 1, active siteSiteActive site
IPR033132 Glycosyl hydrolases family 1, N-terminal conserved siteSiteConserved site

Diseases

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Disease IDSourceNameDescription
223000 OMIMCongenital lactase deficiency (COLACD)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB02376 D-gluconhydroximo-1,5-lactamDrugbanksmall molecule
DB02471 Nojirimycine TetrazoleDrugbanksmall molecule
DB03389 alpha-D-XylopyranoseDrugbanksmall molecule
DB04282 2-deoxy-2-fluoro-a-D-glucoseDrugbanksmall molecule
DB04564 GluconolactoneDrugbanksmall molecule
DB04659 (1S,2S,3R,4S,5S)-2,3,4-TRIHYDROXY-5-(HYDROXYMETHYL)CYCLOHEXYL (1E)-2-PHENYL-N-(SULFOOXY)ETHANIMIDOTHIOATEDrugbanksmall molecule
DB04779 ETHYL (1E)-2-PHENYL-N-(SULFOOXY)ETHANIMIDOTHIOATEDrugbanksmall molecule
DB08558 2-HYDROXYMETHYL-6-OCTYLSULFANYL-TETRAHYDRO-PYRAN-3,4,5-TRIOLDrugbanksmall molecule

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
LPH_HUMANSRC_HUMANMINT17053785 details
LPH_HUMANCALX_HUMANBioGRID, HPRD11751874 details
LPH_HUMANBIP_HUMANBioGRID, HPRD11751874 details