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Protein

Galactocerebrosidase

Gene

GALC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon.2 Publications

Caution

It is uncertain whether Met-1 or Met-17 is the initiator.Curated

Catalytic activityi

D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine.2 Publications

pH dependencei

Optimum pH is 4.0-4.4.

Temperature dependencei

Activity is lost after heating at 52 degrees Celsius for five minutes.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei109SubstrateBy similarity1
Binding sitei151SubstrateBy similarity1
Binding sitei197SubstrateBy similarity1
Active sitei198Proton donor/acceptorBy similarity1
Active sitei274NucleophileBy similarity1
Binding sitei396SubstrateBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosidase, Hydrolase
Biological processLipid degradation, Lipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

ReactomeiR-HSA-1660662 Glycosphingolipid metabolism

Protein family/group databases

CAZyiGH59 Glycoside Hydrolase Family 59

Chemistry databases

SwissLipidsiSLP:000000644

Names & Taxonomyi

Protein namesi
Recommended name:
Galactocerebrosidase (EC:3.2.1.46)
Short name:
GALCERase
Alternative name(s):
Galactocerebroside beta-galactosidase
Galactosylceramidase
Galactosylceramide beta-galactosidase
Gene namesi
Name:GALC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000054983.16
HGNCiHGNC:4115 GALC
MIMi606890 gene
neXtProtiNX_P54803

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Leukodystrophy, globoid cell (GLD)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death.
See also OMIM:245200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06443141G → S in GLD. 1 PublicationCorresponds to variant dbSNP:rs387906955EnsemblClinVar.1
Natural variantiVAR_01395659G → R in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_01395768S → F in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_01395879R → H in GLD. 1 PublicationCorresponds to variant dbSNP:rs370117160Ensembl.1
Natural variantiVAR_01395982I → M in GLD; adult; reduction of activity; when associated with V-2105. 1 Publication1
Natural variantiVAR_003380111G → D in GLD. Corresponds to variant dbSNP:rs746487628Ensembl.1
Natural variantiVAR_003381111G → S in GLD. 1 PublicationCorresponds to variant dbSNP:rs756690487EnsemblClinVar.1
Natural variantiVAR_003382112T → A in GLD; adult. Corresponds to variant dbSNP:rs147313927EnsemblClinVar.1
Natural variantiVAR_003383117M → L in GLD; adult. 1 Publication1
Natural variantiVAR_064432130E → K in GLD. 1 PublicationCorresponds to variant dbSNP:rs374635469EnsemblClinVar.1
Natural variantiVAR_003384187D → V in GLD. Corresponds to variant dbSNP:rs997021099Ensembl.1
Natural variantiVAR_003385194G → A in GLD. Corresponds to variant dbSNP:rs963756824Ensembl.1
Natural variantiVAR_003387250I → T in GLD; late infantile. 1 PublicationCorresponds to variant dbSNP:rs886039569EnsemblClinVar.1
Natural variantiVAR_003388263A → T in GLD. 1
Natural variantiVAR_013961278T → I in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_003389284G → S in GLD. 1 PublicationCorresponds to variant dbSNP:rs377274761EnsemblClinVar.1
Natural variantiVAR_003390286G → D in GLD; significant reduction of activity. 2 PublicationsCorresponds to variant dbSNP:rs199847983EnsemblClinVar.1
Natural variantiVAR_003391295N → T in GLD. Corresponds to variant dbSNP:rs746922378EnsemblClinVar.1
Natural variantiVAR_003392303S → F in GLD; infantile. Corresponds to variant dbSNP:rs756352952EnsemblClinVar.1
Natural variantiVAR_013963314Y → C in GLD. 1 Publication1
Natural variantiVAR_003393318P → A in GLD. 1 PublicationCorresponds to variant dbSNP:rs1057516642Ensembl.1
Natural variantiVAR_064433318P → R in GLD. 1 PublicationCorresponds to variant dbSNP:rs387906954EnsemblClinVar.1
Natural variantiVAR_064434323G → R in GLD. 1 Publication1
Natural variantiVAR_013964335Y → C in GLD; infantile; significant reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs757407613Ensembl.1
Natural variantiVAR_064435384I → T in GLD. 1 Publication1
Natural variantiVAR_064436396R → L in GLD. 1 Publication1
Natural variantiVAR_003394396R → W in GLD; bilateral cherry red spots. Corresponds to variant dbSNP:rs770485731EnsemblClinVar.1
Natural variantiVAR_003395400P → L in GLD. 1
Natural variantiVAR_013965426W → G in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_003396468T → S in GLD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34134328EnsemblClinVar.1
Natural variantiVAR_064437490Y → N in GLD. 1 PublicationCorresponds to variant dbSNP:rs202135871EnsemblClinVar.1
Natural variantiVAR_003397514F → S in GLD. Corresponds to variant dbSNP:rs375867319EnsemblClinVar.1
Natural variantiVAR_003398529T → M in GLD; infantile. Corresponds to variant dbSNP:rs200960659EnsemblClinVar.1
Natural variantiVAR_003399531R → C in GLD. Corresponds to variant dbSNP:rs749893889EnsemblClinVar.1
Natural variantiVAR_013966531R → H in GLD; infantile; significant reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs200378205EnsemblClinVar.1
Natural variantiVAR_003400544D → N in GLD; Arab patients. 1 PublicationCorresponds to variant dbSNP:rs387906952EnsemblClinVar.1
Natural variantiVAR_013967553G → R in GLD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs748573754EnsemblClinVar.1
Natural variantiVAR_003402566V → G in GLD. 1 Publication1
Natural variantiVAR_003403567Y → S in GLD. Corresponds to variant dbSNP:rs752537626EnsemblClinVar.1
Natural variantiVAR_003404592A → S in GLD. 1
Natural variantiVAR_003405599I → S in GLD; infantile; Druze patients. 1 PublicationCorresponds to variant dbSNP:rs387906953EnsemblClinVar.1
Natural variantiVAR_013968634L → S in GLD; adult. 1 PublicationCorresponds to variant dbSNP:rs138577661EnsemblClinVar.1
Natural variantiVAR_003407645L → R in GLD; adult. Corresponds to variant dbSNP:rs780593419Ensembl.1
Natural variantiVAR_013969668T → R in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_069512681V → M in GLD. 1 PublicationCorresponds to variant dbSNP:rs200607029EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNETi2581
GeneReviewsiGALC
MalaCardsiGALC
MIMi245200 phenotype
OpenTargetsiENSG00000054983
Orphaneti206448 Adult Krabbe disease
206436 Infantile Krabbe disease
206443 Late-infantile/juvenile Krabbe disease
PharmGKBiPA28530

Chemistry databases

ChEMBLiCHEMBL3713095

Polymorphism and mutation databases

BioMutaiGALC
DMDMi229462868

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 422 PublicationsAdd BLAST42
ChainiPRO_000001223043 – 685GalactocerebrosidaseAdd BLAST643

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi143N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi287 ↔ 394By similarity
Glycosylationi379N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi403N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi556N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi559N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi602N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP54803
PaxDbiP54803
PeptideAtlasiP54803
PRIDEiP54803
ProteomicsDBi56722
56723 [P54803-3]
56724 [P54803-4]
56725 [P54803-5]

PTM databases

iPTMnetiP54803
PhosphoSitePlusiP54803

Expressioni

Tissue specificityi

Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver.1 Publication

Gene expression databases

BgeeiENSG00000054983 Expressed in 238 organ(s), highest expression level in adrenal tissue
CleanExiHS_GALC
ExpressionAtlasiP54803 baseline and differential
GenevisibleiP54803 HS

Organism-specific databases

HPAiCAB022196

Interactioni

Protein-protein interaction databases

BioGridi108854, 16 interactors
IntActiP54803, 2 interactors
STRINGi9606.ENSP00000261304

Structurei

3D structure databases

ProteinModelPortaliP54803
SMRiP54803
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 59 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IITE Eukaryota
ENOG410XTIS LUCA
GeneTreeiENSGT00390000003303
HOGENOMiHOG000068033
HOVERGENiHBG005800
InParanoidiP54803
KOiK01202
OMAiMGLPWSF
PhylomeDBiP54803
TreeFamiTF312985

Family and domain databases

Gene3Di3.20.20.70, 1 hit
InterProiView protein in InterPro
IPR013785 Aldolase_TIM
IPR001286 Glyco_hydro_59
IPR035394 Glyco_hydro_59_dom
IPR017853 Glycoside_hydrolase_SF
PANTHERiPTHR15172 PTHR15172, 1 hit
PfamiView protein in Pfam
PF02057 Glyco_hydro_59, 1 hit
PF17387 Glyco_hydro_59M, 1 hit
PRINTSiPR00850 GLHYDRLASE59
SUPFAMiSSF51445 SSF51445, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P54803-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAEWLLSASW QRRAKAMTAA AGSAGRAAVP LLLCALLAPG GAYVLDDSDG
60 70 80 90 100
LGREFDGIGA VSGGGATSRL LVNYPEPYRS QILDYLFKPN FGASLHILKV
110 120 130 140 150
EIGGDGQTTD GTEPSHMHYA LDENYFRGYE WWLMKEAKKR NPNITLIGLP
160 170 180 190 200
WSFPGWLGKG FDWPYVNLQL TAYYVVTWIV GAKRYHDLDI DYIGIWNERS
210 220 230 240 250
YNANYIKILR KMLNYQGLQR VKIIASDNLW ESISASMLLD AELFKVVDVI
260 270 280 290 300
GAHYPGTHSA KDAKLTGKKL WSSEDFSTLN SDMGAGCWGR ILNQNYINGY
310 320 330 340 350
MTSTIAWNLV ASYYEQLPYG RCGLMTAQEP WSGHYVVESP VWVSAHTTQF
360 370 380 390 400
TQPGWYYLKT VGHLEKGGSY VALTDGLGNL TIIIETMSHK HSKCIRPFLP
410 420 430 440 450
YFNVSQQFAT FVLKGSFSEI PELQVWYTKL GKTSERFLFK QLDSLWLLDS
460 470 480 490 500
DGSFTLSLHE DELFTLTTLT TGRKGSYPLP PKSQPFPSTY KDDFNVDYPF
510 520 530 540 550
FSEAPNFADQ TGVFEYFTNI EDPGEHHFTL RQVLNQRPIT WAADASNTIS
560 570 580 590 600
IIGDYNWTNL TIKCDVYIET PDTGGVFIAG RVNKGGILIR SARGIFFWIF
610 620 630 640 650
ANGSYRVTGD LAGWIIYALG RVEVTAKKWY TLTLTIKGHF TSGMLNDKSL
660 670 680
WTDIPVNFPK NGWAAIGTHS FEFAQFDNFL VEATR
Length:685
Mass (Da):77,063
Last modified:June 8, 2016 - v3
Checksum:i03F3D223381AD5B1
GO
Isoform 3 (identifier: P54803-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     66-88: Missing.

Note: No experimental confirmation available.
Show »
Length:662
Mass (Da):74,294
Checksum:iEDEF265730A257BE
GO
Isoform 4 (identifier: P54803-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MAEWLLSASW...DGIGAVSGGG → MLGKSHGRAT...HQVTPEEKPA

Show »
Length:659
Mass (Da):74,764
Checksum:iA35297C55D708322
GO
Isoform 5 (identifier: P54803-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGAVSGGG → MGFMVADLW
     638-685: GHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR → VAGRRKKT

Note: No experimental confirmation available.
Show »
Length:589
Mass (Da):67,184
Checksum:i0859D4E53CD87B64
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V5E8G3V5E8_HUMAN
Galactocerebrosidase
GALC
211Annotation score:
A0A087WX10A0A087WX10_HUMAN
Galactocerebrosidase
GALC
404Annotation score:
G3V4M2G3V4M2_HUMAN
Galactocerebrosidase
GALC
112Annotation score:
G3V255G3V255_HUMAN
Galactocerebrosidase
GALC
434Annotation score:
H0YJG8H0YJG8_HUMAN
Galactocerebrosidase
GALC
72Annotation score:
H0YJV6H0YJV6_HUMAN
Galactocerebrosidase
GALC
62Annotation score:

Sequence cautioni

The sequence AAA16645 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAA80975 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH36518 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA04971 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA04972 differs from that shown. Probable intron retention.Curated
The sequence BAA04972 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA24902 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG59160 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti78Y → H in BAH13778 (PubMed:7601472).Curated1
Sequence conflicti195I → T in BAG64110 (PubMed:14702039).Curated1
Sequence conflicti422E → G in BAG64110 (PubMed:14702039).Curated1
Isoform 4 (identifier: P54803-4)
Sequence conflicti17A → T in BAG64110 (PubMed:14702039).Curated1

Polymorphismi

Polymorphic amino-acid changes are responsible for the wide range of catalytic activities found in the general population.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06443021A → P1 PublicationCorresponds to variant dbSNP:rs111887056EnsemblClinVar.1
Natural variantiVAR_06443141G → S in GLD. 1 PublicationCorresponds to variant dbSNP:rs387906955EnsemblClinVar.1
Natural variantiVAR_01395659G → R in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_01395768S → F in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_01395879R → H in GLD. 1 PublicationCorresponds to variant dbSNP:rs370117160Ensembl.1
Natural variantiVAR_01395982I → M in GLD; adult; reduction of activity; when associated with V-2105. 1 Publication1
Natural variantiVAR_003380111G → D in GLD. Corresponds to variant dbSNP:rs746487628Ensembl.1
Natural variantiVAR_003381111G → S in GLD. 1 PublicationCorresponds to variant dbSNP:rs756690487EnsemblClinVar.1
Natural variantiVAR_003382112T → A in GLD; adult. Corresponds to variant dbSNP:rs147313927EnsemblClinVar.1
Natural variantiVAR_003383117M → L in GLD; adult. 1 Publication1
Natural variantiVAR_064432130E → K in GLD. 1 PublicationCorresponds to variant dbSNP:rs374635469EnsemblClinVar.1
Natural variantiVAR_013960184R → C3 PublicationsCorresponds to variant dbSNP:rs1805078EnsemblClinVar.1
Natural variantiVAR_003384187D → V in GLD. Corresponds to variant dbSNP:rs997021099Ensembl.1
Natural variantiVAR_003385194G → A in GLD. Corresponds to variant dbSNP:rs963756824Ensembl.1
Natural variantiVAR_003386248D → N1 PublicationCorresponds to variant dbSNP:rs34362748EnsemblClinVar.1
Natural variantiVAR_003387250I → T in GLD; late infantile. 1 PublicationCorresponds to variant dbSNP:rs886039569EnsemblClinVar.1
Natural variantiVAR_003388263A → T in GLD. 1
Natural variantiVAR_013961278T → I in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_003389284G → S in GLD. 1 PublicationCorresponds to variant dbSNP:rs377274761EnsemblClinVar.1
Natural variantiVAR_003390286G → D in GLD; significant reduction of activity. 2 PublicationsCorresponds to variant dbSNP:rs199847983EnsemblClinVar.1
Natural variantiVAR_003391295N → T in GLD. Corresponds to variant dbSNP:rs746922378EnsemblClinVar.1
Natural variantiVAR_003392303S → F in GLD; infantile. Corresponds to variant dbSNP:rs756352952EnsemblClinVar.1
Natural variantiVAR_013962305I → V1 PublicationCorresponds to variant dbSNP:rs74887188EnsemblClinVar.1
Natural variantiVAR_013963314Y → C in GLD. 1 Publication1
Natural variantiVAR_003393318P → A in GLD. 1 PublicationCorresponds to variant dbSNP:rs1057516642Ensembl.1
Natural variantiVAR_064433318P → R in GLD. 1 PublicationCorresponds to variant dbSNP:rs387906954EnsemblClinVar.1
Natural variantiVAR_064434323G → R in GLD. 1 Publication1
Natural variantiVAR_013964335Y → C in GLD; infantile; significant reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs757407613Ensembl.1
Natural variantiVAR_064435384I → T in GLD. 1 Publication1
Natural variantiVAR_064436396R → L in GLD. 1 Publication1
Natural variantiVAR_003394396R → W in GLD; bilateral cherry red spots. Corresponds to variant dbSNP:rs770485731EnsemblClinVar.1
Natural variantiVAR_003395400P → L in GLD. 1
Natural variantiVAR_013965426W → G in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_003396468T → S in GLD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34134328EnsemblClinVar.1
Natural variantiVAR_064437490Y → N in GLD. 1 PublicationCorresponds to variant dbSNP:rs202135871EnsemblClinVar.1
Natural variantiVAR_003397514F → S in GLD. Corresponds to variant dbSNP:rs375867319EnsemblClinVar.1
Natural variantiVAR_003398529T → M in GLD; infantile. Corresponds to variant dbSNP:rs200960659EnsemblClinVar.1
Natural variantiVAR_003399531R → C in GLD. Corresponds to variant dbSNP:rs749893889EnsemblClinVar.1
Natural variantiVAR_013966531R → H in GLD; infantile; significant reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs200378205EnsemblClinVar.1
Natural variantiVAR_003400544D → N in GLD; Arab patients. 1 PublicationCorresponds to variant dbSNP:rs387906952EnsemblClinVar.1
Natural variantiVAR_013967553G → R in GLD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs748573754EnsemblClinVar.1
Natural variantiVAR_003401562I → T Common polymorphism. 6 PublicationsCorresponds to variant dbSNP:rs398607EnsemblClinVar.1
Natural variantiVAR_003402566V → G in GLD. 1 Publication1
Natural variantiVAR_003403567Y → S in GLD. Corresponds to variant dbSNP:rs752537626EnsemblClinVar.1
Natural variantiVAR_003404592A → S in GLD. 1
Natural variantiVAR_003405599I → S in GLD; infantile; Druze patients. 1 PublicationCorresponds to variant dbSNP:rs387906953EnsemblClinVar.1
Natural variantiVAR_013968634L → S in GLD; adult. 1 PublicationCorresponds to variant dbSNP:rs138577661EnsemblClinVar.1
Natural variantiVAR_003406641T → A3 PublicationsCorresponds to variant dbSNP:rs421262EnsemblClinVar.1
Natural variantiVAR_003407645L → R in GLD; adult. Corresponds to variant dbSNP:rs780593419Ensembl.1
Natural variantiVAR_013969668T → R in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_069512681V → M in GLD. 1 PublicationCorresponds to variant dbSNP:rs200607029EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0369741 – 65MAEWL…VSGGG → MLGKSHGRATHGPLPLADLG IHLPCVKVLHQVTPEEKPA in isoform 4. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_0369751 – 65MAEWL…VSGGG → MGFMVADLW in isoform 5. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_03697666 – 88Missing in isoform 3. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_036977638 – 685GHFTS…VEATR → VAGRRKKT in isoform 5. 1 PublicationAdd BLAST48

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L38559
, L38544, L38545, L38546, L38547, L38548, L38549, L38550, L38551, L38552, L38553, L38555, L38556, L38557, L38558 Genomic DNA Translation: AAA80975.1 Different initiation.
D86181 Genomic DNA Translation: BAA24902.1 Different initiation.
AK296530 mRNA Translation: BAG59160.1 Different initiation.
AK302519 mRNA Translation: BAG63793.1
AK302683 mRNA Translation: BAH13778.1
AK302956 mRNA Translation: BAG64110.1
AL136501 Genomic DNA No translation available.
AL157955 Genomic DNA No translation available.
L23116 mRNA Translation: AAA16645.1 Different initiation.
D25283 mRNA Translation: BAA04971.1 Different initiation.
D25284 mRNA Translation: BAA04972.1 Sequence problems.
BC036518 mRNA Translation: AAH36518.1 Different initiation.
CCDSiCCDS55936.1 [P54803-3]
CCDS55937.1 [P54803-4]
CCDS9878.2 [P54803-1]
PIRiI54205
RefSeqiNP_000144.2, NM_000153.3 [P54803-1]
NP_001188330.1, NM_001201401.1 [P54803-3]
NP_001188331.1, NM_001201402.1 [P54803-4]
UniGeneiHs.513439

Genome annotation databases

EnsembliENST00000261304; ENSP00000261304; ENSG00000054983 [P54803-1]
ENST00000393568; ENSP00000377198; ENSG00000054983 [P54803-3]
ENST00000393569; ENSP00000377199; ENSG00000054983 [P54803-4]
ENST00000544807; ENSP00000437513; ENSG00000054983 [P54803-5]
GeneIDi2581
KEGGihsa:2581
UCSCiuc010tvz.2 human [P54803-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L38559
, L38544, L38545, L38546, L38547, L38548, L38549, L38550, L38551, L38552, L38553, L38555, L38556, L38557, L38558 Genomic DNA Translation: AAA80975.1 Different initiation.
D86181 Genomic DNA Translation: BAA24902.1 Different initiation.
AK296530 mRNA Translation: BAG59160.1 Different initiation.
AK302519 mRNA Translation: BAG63793.1
AK302683 mRNA Translation: BAH13778.1
AK302956 mRNA Translation: BAG64110.1
AL136501 Genomic DNA No translation available.
AL157955 Genomic DNA No translation available.
L23116 mRNA Translation: AAA16645.1 Different initiation.
D25283 mRNA Translation: BAA04971.1 Different initiation.
D25284 mRNA Translation: BAA04972.1 Sequence problems.
BC036518 mRNA Translation: AAH36518.1 Different initiation.
CCDSiCCDS55936.1 [P54803-3]
CCDS55937.1 [P54803-4]
CCDS9878.2 [P54803-1]
PIRiI54205
RefSeqiNP_000144.2, NM_000153.3 [P54803-1]
NP_001188330.1, NM_001201401.1 [P54803-3]
NP_001188331.1, NM_001201402.1 [P54803-4]
UniGeneiHs.513439

3D structure databases

ProteinModelPortaliP54803
SMRiP54803
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108854, 16 interactors
IntActiP54803, 2 interactors
STRINGi9606.ENSP00000261304

Chemistry databases

ChEMBLiCHEMBL3713095
SwissLipidsiSLP:000000644

Protein family/group databases

CAZyiGH59 Glycoside Hydrolase Family 59

PTM databases

iPTMnetiP54803
PhosphoSitePlusiP54803

Polymorphism and mutation databases

BioMutaiGALC
DMDMi229462868

Proteomic databases

EPDiP54803
PaxDbiP54803
PeptideAtlasiP54803
PRIDEiP54803
ProteomicsDBi56722
56723 [P54803-3]
56724 [P54803-4]
56725 [P54803-5]

Protocols and materials databases

DNASUi2581
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261304; ENSP00000261304; ENSG00000054983 [P54803-1]
ENST00000393568; ENSP00000377198; ENSG00000054983 [P54803-3]
ENST00000393569; ENSP00000377199; ENSG00000054983 [P54803-4]
ENST00000544807; ENSP00000437513; ENSG00000054983 [P54803-5]
GeneIDi2581
KEGGihsa:2581
UCSCiuc010tvz.2 human [P54803-1]

Organism-specific databases

CTDi2581
DisGeNETi2581
EuPathDBiHostDB:ENSG00000054983.16
GeneCardsiGALC
GeneReviewsiGALC
H-InvDBiHIX0026669
HGNCiHGNC:4115 GALC
HPAiCAB022196
MalaCardsiGALC
MIMi245200 phenotype
606890 gene
neXtProtiNX_P54803
OpenTargetsiENSG00000054983
Orphaneti206448 Adult Krabbe disease
206436 Infantile Krabbe disease
206443 Late-infantile/juvenile Krabbe disease
PharmGKBiPA28530
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IITE Eukaryota
ENOG410XTIS LUCA
GeneTreeiENSGT00390000003303
HOGENOMiHOG000068033
HOVERGENiHBG005800
InParanoidiP54803
KOiK01202
OMAiMGLPWSF
PhylomeDBiP54803
TreeFamiTF312985

Enzyme and pathway databases

ReactomeiR-HSA-1660662 Glycosphingolipid metabolism

Miscellaneous databases

ChiTaRSiGALC human
GeneWikiiGalactosylceramidase
GenomeRNAii2581
PROiPR:P54803
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000054983 Expressed in 238 organ(s), highest expression level in adrenal tissue
CleanExiHS_GALC
ExpressionAtlasiP54803 baseline and differential
GenevisibleiP54803 HS

Family and domain databases

Gene3Di3.20.20.70, 1 hit
InterProiView protein in InterPro
IPR013785 Aldolase_TIM
IPR001286 Glyco_hydro_59
IPR035394 Glyco_hydro_59_dom
IPR017853 Glycoside_hydrolase_SF
PANTHERiPTHR15172 PTHR15172, 1 hit
PfamiView protein in Pfam
PF02057 Glyco_hydro_59, 1 hit
PF17387 Glyco_hydro_59M, 1 hit
PRINTSiPR00850 GLHYDRLASE59
SUPFAMiSSF51445 SSF51445, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGALC_HUMAN
AccessioniPrimary (citable) accession number: P54803
Secondary accession number(s): B4DKE8
, B4DYN1, B4DZJ8, B7Z7Z2, J3KN25, J3KPP8, Q8J030
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: June 8, 2016
Last modified: November 7, 2018
This is version 174 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  6. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
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Main funding by: National Institutes of Health

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