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GALC

GENERAL INFORMATION

Gene name

 GALC

Gene description

 Galactosylceramidase

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Membrane,Secreted

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
CAB022196
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 GALC

Synonyms

Description

 Galactosylceramidase (HGNC Symbol)

Entrez gene summary

 This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Chromosome

 14

Cytoband

 q31.3

Chromosome location (bp)

 87837820 - 87993665

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000054983 (version 83.38)

Entrez gene

 2581

UniProt

 P54803 (UniProt - Evidence at protein level)

neXtProt

 NX_P54803

Antibodypedia

 GALC antibodies

PROTEIN BROWSER
GALC-001
GALC-002
GALC-005
GALC-007
GALC-017

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GALC-001
ENSP00000261304
ENST00000261304
A0A0A0MQV0 [Direct mapping]
Galactocerebrosidase
Show all
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004336 [galactosylceramidase activity]
GO:0005739 [mitochondrion]
GO:0005975 [carbohydrate metabolic process]
GO:0006683 [galactosylceramide catabolic process]
Show all
 685 aa
77.1 kDa 		Yes 0
GALC-002
ENSP00000377199
ENST00000393569
A0A0A0MS42 [Direct mapping]
Galactocerebrosidase
Show all
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004336 [galactosylceramidase activity]
GO:0005975 [carbohydrate metabolic process]
GO:0006683 [galactosylceramide catabolic process]
Show all
 659 aa
74.8 kDa 		No 0
GALC-005
ENSP00000377198
ENST00000393568
E7EPA4 [Direct mapping]
Galactocerebrosidase
Show all
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004336 [galactosylceramidase activity]
GO:0005975 [carbohydrate metabolic process]
GO:0006683 [galactosylceramide catabolic process]
Show all
 662 aa
74.3 kDa 		Yes 0
GALC-007
ENSP00000437513
ENST00000544807
P54803 [Direct mapping]
Galactocerebrosidase
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Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004336 [galactosylceramidase activity]
GO:0005764 [lysosome]
GO:0005975 [carbohydrate metabolic process]
GO:0006665 [sphingolipid metabolic process]
GO:0006683 [galactosylceramide catabolic process]
GO:0006687 [glycosphingolipid metabolic process]
GO:0043202 [lysosomal lumen]
GO:0044281 [small molecule metabolic process]
GO:0070062 [extracellular exosome]
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 589 aa
67.2 kDa 		No 0
GALC-017
ENSP00000480649
ENST00000622264
A0A087WX10 [Direct mapping]
Galactocerebrosidase
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004336 [galactosylceramidase activity]
GO:0005975 [carbohydrate metabolic process]
GO:0006683 [galactosylceramide catabolic process]
Show all
 404 aa
45.2 kDa 		Yes 1

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.