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
lactose catabolic process	IDA	12594539 3929764 9762914
glycosylceramide catabolic process	ISS
quercetin catabolic process	IDA	12594539
cellobiose catabolic process	IDA	3929764

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 2** entries
GO Term	Evidence Code	PMID
plasma membrane	TAS
external side of apical plasma membrane	IDA	9593732

GO Hierarchy

cellular component

cellular anatomical entity [inference]

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 10 in total

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GO Term	Evidence Code	PMID
lactase activity	IDA	12594539 3929764 9762914
lactase activity	IMP	16400612
lactase activity	IBA
galactosylceramidase activity	ISS
glucosylceramidase 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

phlorizin hydrolase 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.

OrthoDB (Group)

Group level

Eukaryota

Group Name

beta-glucosidase

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
T: Signal transduction mechanisms

Displaying **all 3** entries
InterPro
Glycoside hydrolase family 1
Glycoside hydrolase superfamily
Glycosyl hydrolases family 1, N-terminal conserved site

KEGG BRITE Database

Orthology

K01229

Name

lactase-phlorizin hydrolase [EC:3.2.1.108 3.2.1.62]

References

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0111646	congenital lactase deficiency	Alliance of Genome Resources

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 83 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	3938	Xenbase:XB-GENE-1001138
Drosophila melanogaster	9365	FB:FBgn0036659
Drosophila melanogaster	16591	FB:FBgn0036659
Drosophila melanogaster	57733	FB:FBgn0036659
Drosophila melanogaster	83379	FB:FBgn0036659
Drosophila melanogaster	83504	FB:FBgn0036659
Rattus norvegicus	116569		RATNO06336
Drosophila melanogaster	152831	FB:FBgn0036659
Xenopus tropicalis	177557	Xenbase:XB-GENE-1001138
Drosophila melanogaster	197021	FB:FBgn0036659

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements