GlyCosmos Portal

Submissions

lactase

Summary

Gene Symbol

Organism

Homo sapiens (human)

External Links

NCBI Gene

3938

HGNC

6530

KEGG Gene ID

hsa:3938

PubChem

3938

Alliance of Genome Resources

HGNC:6530

Annotation

Keyword

Cell membrane
Disease variant
Glycoprotein
Glycosidase
Multifunctional enzyme
Reference proteome
Signal
Transmembrane helix
Zymogen

Proteins

Displaying 1 entry
UniProt	Protein Name
P09848	Lactase/glycosylceramidase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
quercetin catabolic process	IDA	12594539
lactose catabolic process	IDA	12594539 3929764 9762914
cellobiose catabolic process	IDA	3929764
glycosylceramide catabolic process	ISS

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

amide metabolic process [inference]

ceramide metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

organonitrogen compound catabolic process [inference]

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

catabolic process [inference]

cellular catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

organic substance catabolic process [inference]

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

carbohydrate catabolic process [inference]

oligosaccharide catabolic process [inference]

disaccharide catabolic process [inference]

flavonoid catabolic process [inference]

quercetin catabolic process

carbohydrate derivative catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

organonitrogen compound catabolic process [inference]

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

organic hydroxy compound catabolic process [inference]

quercetin catabolic process

pigment metabolic process [inference]

flavone metabolic process [inference]

quercetin metabolic process [inference]

quercetin catabolic process

cellular metabolic process [inference]

cellular catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

primary metabolic process [inference]

carbohydrate metabolic process [inference]

oligosaccharide metabolic process [inference]

disaccharide metabolic process [inference]

lactose metabolic process [inference]

lactose catabolic process

disaccharide catabolic process [inference]

cellobiose metabolic process [inference]

cellobiose catabolic process

oligosaccharide catabolic process [inference]

disaccharide catabolic process [inference]

carbohydrate catabolic process [inference]

oligosaccharide catabolic process [inference]

disaccharide catabolic process [inference]

lipid metabolic process [inference]

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

oligosaccharide metabolic process [inference]

disaccharide metabolic process [inference]

lactose metabolic process [inference]

lactose catabolic process

disaccharide catabolic process [inference]

cellobiose metabolic process [inference]

cellobiose catabolic process

oligosaccharide catabolic process [inference]

disaccharide catabolic process [inference]

carbohydrate catabolic process [inference]

oligosaccharide catabolic process [inference]

disaccharide catabolic process [inference]

lipid metabolic process [inference]

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

flavonoid metabolic process [inference]

flavonoid catabolic process [inference]

quercetin catabolic process

flavone metabolic process [inference]

quercetin metabolic process [inference]

quercetin catabolic process

carbohydrate derivative metabolic process [inference]

carbohydrate derivative catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

organonitrogen compound catabolic process [inference]

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

organic substance catabolic process [inference]

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

carbohydrate catabolic process [inference]

oligosaccharide catabolic process [inference]

disaccharide catabolic process [inference]

flavonoid catabolic process [inference]

quercetin catabolic process

carbohydrate derivative catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

organonitrogen compound catabolic process [inference]

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

organic hydroxy compound catabolic process [inference]

quercetin catabolic process

organic hydroxy compound metabolic process [inference]

organic hydroxy compound catabolic process [inference]

quercetin catabolic process

quercetin metabolic process [inference]

quercetin catabolic process

cellular process [inference]

cellular metabolic process [inference]

cellular catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glycosylceramide catabolic process

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process [inference]

glycosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process

Displaying **all 3** entries
GO Term	Evidence Code	PMID
cytosol
external side of apical plasma membrane	IDA	9593732
plasma membrane	TAS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

membrane [inference]

plasma membrane

side of membrane [inference]

external side of plasma membrane [inference]

external side of apical plasma membrane

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
glucosylceramidase activity	ISS
lactase activity	IBA IDA IMP	12594539 16400612 3929764 9762914
glycosylceramidase activity	IEA
protein homodimerization activity	IDA	9593732
galactosylceramidase activity	ISS

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing O-glycosyl compounds [inference]

glucosidase activity [inference]

beta-glucosidase activity

cellobiose glucosidase activity

binding [inference]

protein binding [inference]

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

Gene Ontology information from NCBI Gene and UniProt.

KEGG BRITE Database

Orthology

K01229

Name

lactase-phlorizin hydrolase [EC:3.2.1.108 3.2.1.62]

References

Disease

Disease Ontology

Displaying entries **1 - 10** of **103** in total

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DO ID	Disease Name	Source
DOID:0050424	familial adenomatous polyposis	DisGeNET
DOID:0050457	Sertoli cell-only syndrome	DisGeNET
DOID:0050523	adult T-cell leukemia/lymphoma	DisGeNET
DOID:0050589	inflammatory bowel disease	DisGeNET DisGeNET
DOID:0050638	transthyretin amyloidosis	DisGeNET
DOID:0060180	colitis	DisGeNET Alliance of Genome Resources
DOID:0060185	Clostridium difficile colitis	DisGeNET
DOID:0060189	ileitis	DisGeNET
DOID:0060190	ileocolitis	DisGeNET
DOID:0060192	Crohn's colitis	DisGeNET

The Human Phenotype Ontology

Displaying **all 6** entries
HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0001942	Metabolic acidosis
HP:0001944	Dehydration
HP:0002014	Diarrhea
HP:0003623	Neonatal onset
HP:0004789	Lactose intolerance

Displaying 1 entry
Disease ID	Disease Name
OMIM:223000	congenital lactase deficiency

PubChem Disease

GHR Health Conditions

Lactose intolerance

MedGen Diseases

Congenital lactase deficiency

OMIM Phenotypes

LACTASE DEFICIENCY, CONGENITAL

KEGG Diseases

Congenital lactase deficiency

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 77 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	184000	WB:WBGene00017103
Drosophila melanogaster	39872	FB:FBgn0036659
Callorhinchus milii	103180388		CALMI20264
Latimeria chalumnae	102361997		LATCH06327
Danio rerio	559107		DANRE44983
Astyanax mexicanus	103029218		ASTMX10834
Esox lucius	105005862		ESOLU46477
Salmo salar	106586119		SALSA90284
Salmo trutta	115160641		SALTR15298
Gadus morhua	115533056		GADMO30478

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

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Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements