Cell atlas - GALC - The Human Protein Atlas

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GALC

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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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
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Cell line enhanced (CAPAN-2, HMC-1)
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (CAPAN-2, HMC-1) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

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 Show all	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] Show all	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

contact@proteinatlas.org

The Project

The Human Protein Atlas

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