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Protein

Galactocerebrosidase

Gene

GALC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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

Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Keywords - Biological processi

Lipid degradation, Lipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

BioCyciZFISH:HS00678-MONOMER.
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

HGNCiHGNC:4115. GALC.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • lysosomal lumen Source: Reactome
  • lysosome Source: ProtInc
Complete GO annotation...

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 rs387906955dbSNPEnsembl.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 rs370117160dbSNPEnsembl.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 rs746487628dbSNPEnsembl.1
Natural variantiVAR_003381111G → S in GLD. 1 PublicationCorresponds to variant rs756690487dbSNPEnsembl.1
Natural variantiVAR_003382112T → A in GLD; adult. Corresponds to variant rs147313927dbSNPEnsembl.1
Natural variantiVAR_003383117M → L in GLD; adult. 1 Publication1
Natural variantiVAR_064432130E → K in GLD. 1 PublicationCorresponds to variant rs374635469dbSNPEnsembl.1
Natural variantiVAR_003384187D → V in GLD. 1
Natural variantiVAR_003385194G → A in GLD. 1
Natural variantiVAR_003387250I → T in GLD; late infantile. 1 Publication1
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 rs377274761dbSNPEnsembl.1
Natural variantiVAR_003390286G → D in GLD; significant reduction of activity. 2 PublicationsCorresponds to variant rs199847983dbSNPEnsembl.1
Natural variantiVAR_003391295N → T in GLD. Corresponds to variant rs746922378dbSNPEnsembl.1
Natural variantiVAR_003392303S → F in GLD; infantile. Corresponds to variant rs756352952dbSNPEnsembl.1
Natural variantiVAR_013963314Y → C in GLD. 1 Publication1
Natural variantiVAR_003393318P → A in GLD. 1 Publication1
Natural variantiVAR_064433318P → R in GLD. 1 PublicationCorresponds to variant rs387906954dbSNPEnsembl.1
Natural variantiVAR_064434323G → R in GLD. 1 Publication1
Natural variantiVAR_013964335Y → C in GLD; infantile; significant reduction of activity. 1 PublicationCorresponds to variant rs757407613dbSNPEnsembl.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 rs770485731dbSNPEnsembl.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. Corresponds to variant rs34134328dbSNPEnsembl.1
Natural variantiVAR_064437490Y → N in GLD. 1 PublicationCorresponds to variant rs202135871dbSNPEnsembl.1
Natural variantiVAR_003397514F → S in GLD. Corresponds to variant rs375867319dbSNPEnsembl.1
Natural variantiVAR_003398529T → M in GLD; infantile. Corresponds to variant rs200960659dbSNPEnsembl.1
Natural variantiVAR_003399531R → C in GLD. Corresponds to variant rs749893889dbSNPEnsembl.1
Natural variantiVAR_013966531R → H in GLD; infantile; significant reduction of activity. 1 PublicationCorresponds to variant rs200378205dbSNPEnsembl.1
Natural variantiVAR_003400544D → N in GLD; Arab patients. 1 PublicationCorresponds to variant rs387906952dbSNPEnsembl.1
Natural variantiVAR_013967553G → R in GLD; loss of activity. 1 PublicationCorresponds to variant rs748573754dbSNPEnsembl.1
Natural variantiVAR_003402566V → G in GLD. 1 Publication1
Natural variantiVAR_003403567Y → S in GLD. Corresponds to variant rs752537626dbSNPEnsembl.1
Natural variantiVAR_003404592A → S in GLD. 1
Natural variantiVAR_003405599I → S in GLD; infantile; Druze patients. 1 PublicationCorresponds to variant rs387906953dbSNPEnsembl.1
Natural variantiVAR_013968634L → S in GLD; adult. 1 PublicationCorresponds to variant rs138577661dbSNPEnsembl.1
Natural variantiVAR_003407645L → R in GLD; adult. Corresponds to variant rs780593419dbSNPEnsembl.1
Natural variantiVAR_013969668T → R in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_069512681V → M in GLD. 1 PublicationCorresponds to variant rs200607029dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

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

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...)Sequence analysis1
Disulfide bondi287 ↔ 394By similarity
Glycosylationi379N-linked (GlcNAc...)Sequence analysis1
Glycosylationi403N-linked (GlcNAc...)Sequence analysis1
Glycosylationi556N-linked (GlcNAc...)Sequence analysis1
Glycosylationi559N-linked (GlcNAc...)Sequence analysis1
Glycosylationi602N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP54803.
PaxDbiP54803.
PeptideAtlasiP54803.
PRIDEiP54803.

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.
CleanExiHS_GALC.
ExpressionAtlasiP54803. baseline and differential.
GenevisibleiP54803. HS.

Organism-specific databases

HPAiCAB022196.

Interactioni

Protein-protein interaction databases

BioGridi108854. 12 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.
PhylomeDBiP54803.
TreeFamiTF312985.

Family and domain databases

Gene3Di3.20.20.80. 1 hit.
InterProiIPR001286. Glyco_hydro_59.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PANTHERiPTHR15172. PTHR15172. 1 hit.
PfamiPF02057. Glyco_hydro_59. 1 hit.
[Graphical view]
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

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

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 → P.1 PublicationCorresponds to variant rs111887056dbSNPEnsembl.1
Natural variantiVAR_06443141G → S in GLD. 1 PublicationCorresponds to variant rs387906955dbSNPEnsembl.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 rs370117160dbSNPEnsembl.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 rs746487628dbSNPEnsembl.1
Natural variantiVAR_003381111G → S in GLD. 1 PublicationCorresponds to variant rs756690487dbSNPEnsembl.1
Natural variantiVAR_003382112T → A in GLD; adult. Corresponds to variant rs147313927dbSNPEnsembl.1
Natural variantiVAR_003383117M → L in GLD; adult. 1 Publication1
Natural variantiVAR_064432130E → K in GLD. 1 PublicationCorresponds to variant rs374635469dbSNPEnsembl.1
Natural variantiVAR_013960184R → C.3 PublicationsCorresponds to variant rs1805078dbSNPEnsembl.1
Natural variantiVAR_003384187D → V in GLD. 1
Natural variantiVAR_003385194G → A in GLD. 1
Natural variantiVAR_003386248D → N.1 PublicationCorresponds to variant rs34362748dbSNPEnsembl.1
Natural variantiVAR_003387250I → T in GLD; late infantile. 1 Publication1
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 rs377274761dbSNPEnsembl.1
Natural variantiVAR_003390286G → D in GLD; significant reduction of activity. 2 PublicationsCorresponds to variant rs199847983dbSNPEnsembl.1
Natural variantiVAR_003391295N → T in GLD. Corresponds to variant rs746922378dbSNPEnsembl.1
Natural variantiVAR_003392303S → F in GLD; infantile. Corresponds to variant rs756352952dbSNPEnsembl.1
Natural variantiVAR_013962305I → V.1 PublicationCorresponds to variant rs1805079dbSNPEnsembl.1
Natural variantiVAR_013963314Y → C in GLD. 1 Publication1
Natural variantiVAR_003393318P → A in GLD. 1 Publication1
Natural variantiVAR_064433318P → R in GLD. 1 PublicationCorresponds to variant rs387906954dbSNPEnsembl.1
Natural variantiVAR_064434323G → R in GLD. 1 Publication1
Natural variantiVAR_013964335Y → C in GLD; infantile; significant reduction of activity. 1 PublicationCorresponds to variant rs757407613dbSNPEnsembl.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 rs770485731dbSNPEnsembl.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. Corresponds to variant rs34134328dbSNPEnsembl.1
Natural variantiVAR_064437490Y → N in GLD. 1 PublicationCorresponds to variant rs202135871dbSNPEnsembl.1
Natural variantiVAR_003397514F → S in GLD. Corresponds to variant rs375867319dbSNPEnsembl.1
Natural variantiVAR_003398529T → M in GLD; infantile. Corresponds to variant rs200960659dbSNPEnsembl.1
Natural variantiVAR_003399531R → C in GLD. Corresponds to variant rs749893889dbSNPEnsembl.1
Natural variantiVAR_013966531R → H in GLD; infantile; significant reduction of activity. 1 PublicationCorresponds to variant rs200378205dbSNPEnsembl.1
Natural variantiVAR_003400544D → N in GLD; Arab patients. 1 PublicationCorresponds to variant rs387906952dbSNPEnsembl.1
Natural variantiVAR_013967553G → R in GLD; loss of activity. 1 PublicationCorresponds to variant rs748573754dbSNPEnsembl.1
Natural variantiVAR_003401562I → T Common polymorphism. 6 PublicationsCorresponds to variant rs398607dbSNPEnsembl.1
Natural variantiVAR_003402566V → G in GLD. 1 Publication1
Natural variantiVAR_003403567Y → S in GLD. Corresponds to variant rs752537626dbSNPEnsembl.1
Natural variantiVAR_003404592A → S in GLD. 1
Natural variantiVAR_003405599I → S in GLD; infantile; Druze patients. 1 PublicationCorresponds to variant rs387906953dbSNPEnsembl.1
Natural variantiVAR_013968634L → S in GLD; adult. 1 PublicationCorresponds to variant rs138577661dbSNPEnsembl.1
Natural variantiVAR_003406641T → A.3 PublicationsCorresponds to variant rs421262dbSNPEnsembl.1
Natural variantiVAR_003407645L → R in GLD; adult. Corresponds to variant rs780593419dbSNPEnsembl.1
Natural variantiVAR_013969668T → R in GLD; infantile; significant reduction of activity. 1 Publication1
Natural variantiVAR_069512681V → M in GLD. 1 PublicationCorresponds to variant rs200607029dbSNPEnsembl.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

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. 12 interactors.
STRINGi9606.ENSP00000261304.

Chemistry databases

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.

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.
GeneCardsiGALC.
GeneReviewsiGALC.
H-InvDBHIX0026669.
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.
PhylomeDBiP54803.
TreeFamiTF312985.

Enzyme and pathway databases

BioCyciZFISH:HS00678-MONOMER.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.

Miscellaneous databases

ChiTaRSiGALC. human.
GeneWikiiGalactosylceramidase.
GenomeRNAii2581.
PROiP54803.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000054983.
CleanExiHS_GALC.
ExpressionAtlasiP54803. baseline and differential.
GenevisibleiP54803. HS.

Family and domain databases

Gene3Di3.20.20.80. 1 hit.
InterProiIPR001286. Glyco_hydro_59.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PANTHERiPTHR15172. PTHR15172. 1 hit.
PfamiPF02057. Glyco_hydro_59. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: June 8, 2016
Last modified: November 2, 2016
This is version 158 of the entry and version 3 of the sequence. [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

Caution

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

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.