Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P54803

- GALC_HUMAN

UniProt

P54803 - GALC_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Galactocerebrosidase

Gene

GALC

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei109 – 1091SubstrateBy similarity
Binding sitei151 – 1511SubstrateBy similarity
Binding sitei197 – 1971SubstrateBy similarity
Active sitei198 – 1981Proton donor/acceptorBy similarity
Active sitei274 – 2741NucleophileBy similarity
Binding sitei396 – 3961SubstrateBy similarity

GO - Molecular functioni

  1. galactosylceramidase activity Source: UniProtKB

GO - Biological processi

  1. carbohydrate metabolic process Source: InterPro
  2. galactosylceramide catabolic process Source: UniProtKB
  3. glycosphingolipid metabolic process Source: Reactome
  4. small molecule metabolic process Source: Reactome
  5. sphingolipid metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Keywords - Biological processi

Lipid degradation, Lipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

ReactomeiREACT_116105. Glycosphingolipid metabolism.

Protein family/group databases

CAZyiGH59. Glycoside Hydrolase Family 59.

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
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:4115. GALC.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. lysosomal lumen Source: Reactome
  3. lysosome Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Leukodystrophy, globoid cell (GLD) [MIM:245200]: An 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.9 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411G → S in GLD. 1 Publication
VAR_064431
Natural varianti59 – 591G → R in GLD; infantile; significant reduction of activity. 1 Publication
VAR_013956
Natural varianti68 – 681S → F in GLD; infantile; significant reduction of activity. 1 Publication
VAR_013957
Natural varianti79 – 791R → H in GLD. 1 Publication
VAR_013958
Natural varianti82 – 821I → M in GLD; adult; reduction of activity; when associated with V-2105. 1 Publication
VAR_013959
Natural varianti111 – 1111G → D in GLD.
VAR_003380
Natural varianti111 – 1111G → S in GLD. 1 Publication
VAR_003381
Natural varianti112 – 1121T → A in GLD; adult.
VAR_003382
Natural varianti117 – 1171M → L in GLD; adult. 1 Publication
VAR_003383
Natural varianti130 – 1301E → K in GLD. 1 Publication
VAR_064432
Natural varianti187 – 1871D → V in GLD.
VAR_003384
Natural varianti194 – 1941G → A in GLD.
VAR_003385
Natural varianti250 – 2501I → T in GLD; late infantile. 1 Publication
VAR_003387
Natural varianti263 – 2631A → T in GLD.
VAR_003388
Natural varianti278 – 2781T → I in GLD; infantile; significant reduction of activity. 1 Publication
VAR_013961
Natural varianti284 – 2841G → S in GLD. 1 Publication
VAR_003389
Natural varianti286 – 2861G → D in GLD. 2 Publications
VAR_003390
Natural varianti295 – 2951N → T in GLD.
VAR_003391
Natural varianti303 – 3031S → F in GLD; infantile.
VAR_003392
Natural varianti314 – 3141Y → C in GLD. 1 Publication
VAR_013963
Natural varianti318 – 3181P → A in GLD. 1 Publication
VAR_003393
Natural varianti318 – 3181P → R in GLD. 1 Publication
VAR_064433
Natural varianti323 – 3231G → R in GLD. 1 Publication
VAR_064434
Natural varianti335 – 3351Y → C in GLD; infantile; significant reduction of activity. 1 Publication
VAR_013964
Natural varianti384 – 3841I → T in GLD. 1 Publication
VAR_064435
Natural varianti396 – 3961R → L in GLD. 1 Publication
VAR_064436
Natural varianti396 – 3961R → W in GLD; bilateral cherry red spots.
VAR_003394
Natural varianti400 – 4001P → L in GLD.
VAR_003395
Natural varianti426 – 4261W → G in GLD; infantile; significant reduction of activity. 1 Publication
VAR_013965
Natural varianti468 – 4681T → S in GLD.
Corresponds to variant rs34134328 [ dbSNP | Ensembl ].
VAR_003396
Natural varianti490 – 4901Y → N in GLD. 1 Publication
VAR_064437
Natural varianti514 – 5141F → S in GLD.
VAR_003397
Natural varianti529 – 5291T → M in GLD; infantile.
VAR_003398
Natural varianti531 – 5311R → C in GLD.
VAR_003399
Natural varianti531 – 5311R → H in GLD; infantile; significant reduction of activity. 1 Publication
VAR_013966
Natural varianti544 – 5441D → N in GLD; Arab patients. 1 Publication
VAR_003400
Natural varianti553 – 5531G → R in GLD; loss of activity. 1 Publication
VAR_013967
Natural varianti566 – 5661V → G in GLD. 1 Publication
VAR_003402
Natural varianti567 – 5671Y → S in GLD.
VAR_003403
Natural varianti592 – 5921A → S in GLD.
VAR_003404
Natural varianti599 – 5991I → S in GLD; infantile; Druze patients. 1 Publication
VAR_003405
Natural varianti634 – 6341L → S in GLD; adult. 1 Publication
VAR_013968
Natural varianti645 – 6451L → R in GLD; adult.
VAR_003407
Natural varianti668 – 6681T → R in GLD; infantile; significant reduction of activity. 1 Publication
VAR_013969
Natural varianti681 – 6811V → M in GLD. 1 Publication
VAR_069512

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 42422 PublicationsAdd
BLAST
Chaini43 – 685643GalactocerebrosidasePRO_0000012230Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi143 – 1431N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi287 ↔ 394By similarity
Glycosylationi379 – 3791N-linked (GlcNAc...)Sequence Analysis
Glycosylationi403 – 4031N-linked (GlcNAc...)Sequence Analysis
Glycosylationi556 – 5561N-linked (GlcNAc...)Sequence Analysis
Glycosylationi559 – 5591N-linked (GlcNAc...)Sequence Analysis
Glycosylationi602 – 6021N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP54803.
PaxDbiP54803.
PRIDEiP54803.

PTM databases

PhosphoSiteiP54803.

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

BgeeiP54803.
CleanExiHS_GALC.
ExpressionAtlasiP54803. baseline and differential.
GenevestigatoriP54803.

Organism-specific databases

HPAiCAB022196.

Interactioni

Protein-protein interaction databases

BioGridi108854. 8 interactions.
STRINGi9606.ENSP00000261304.

Structurei

3D structure databases

ProteinModelPortaliP54803.
SMRiP54803. Positions 41-685.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 59 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG76999.
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. Align

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 ASGMLNDKSL
660 670 680
WTDIPVNFPK NGWAAIGTHS FEFAQFDNFL VEATR
Length:685
Mass (Da):77,033
Last modified:May 5, 2009 - v2
Checksum:i03F3D223291AD5A0
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):74,264
Checksum:iEDEF265721A257AF
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):74,734
Checksum:iA35297C54C708333
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: GHFASGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR → VAGRRKKT

Note: No experimental confirmation available.

Show »
Length:589
Mass (Da):67,184
Checksum:i0859D4E53CD87B64
GO

Sequence cautioni

The sequence AAA16645.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAA80975.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH36518.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA04971.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA04972.1 differs from that shown. Reason: Probable intron retention.Curated
The sequence BAA04972.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA24902.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG59160.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti78 – 781Y → H in BAH13778. (PubMed:7601472)Curated
Sequence conflicti195 – 1951I → T in BAG64110. (PubMed:14702039)Curated
Sequence conflicti422 – 4221E → G in BAG64110. (PubMed:14702039)Curated
Isoform 4 (identifier: P54803-4)
Sequence conflicti17 – 171A → T in BAG64110. (PubMed:14702039)Curated

Polymorphismi

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211A → P.1 Publication
VAR_064430
Natural varianti41 – 411G → S in GLD. 1 Publication
VAR_064431
Natural varianti59 – 591G → R in GLD; infantile; significant reduction of activity. 1 Publication
VAR_013956
Natural varianti68 – 681S → F in GLD; infantile; significant reduction of activity. 1 Publication
VAR_013957
Natural varianti79 – 791R → H in GLD. 1 Publication
VAR_013958
Natural varianti82 – 821I → M in GLD; adult; reduction of activity; when associated with V-2105. 1 Publication
VAR_013959
Natural varianti111 – 1111G → D in GLD.
VAR_003380
Natural varianti111 – 1111G → S in GLD. 1 Publication
VAR_003381
Natural varianti112 – 1121T → A in GLD; adult.
VAR_003382
Natural varianti117 – 1171M → L in GLD; adult. 1 Publication
VAR_003383
Natural varianti130 – 1301E → K in GLD. 1 Publication
VAR_064432
Natural varianti184 – 1841R → C.3 Publications
Corresponds to variant rs1805078 [ dbSNP | Ensembl ].
VAR_013960
Natural varianti187 – 1871D → V in GLD.
VAR_003384
Natural varianti194 – 1941G → A in GLD.
VAR_003385
Natural varianti248 – 2481D → N.1 Publication
Corresponds to variant rs34362748 [ dbSNP | Ensembl ].
VAR_003386
Natural varianti250 – 2501I → T in GLD; late infantile. 1 Publication
VAR_003387
Natural varianti263 – 2631A → T in GLD.
VAR_003388
Natural varianti278 – 2781T → I in GLD; infantile; significant reduction of activity. 1 Publication
VAR_013961
Natural varianti284 – 2841G → S in GLD. 1 Publication
VAR_003389
Natural varianti286 – 2861G → D in GLD. 2 Publications
VAR_003390
Natural varianti295 – 2951N → T in GLD.
VAR_003391
Natural varianti303 – 3031S → F in GLD; infantile.
VAR_003392
Natural varianti305 – 3051I → V.1 Publication
Corresponds to variant rs1805079 [ dbSNP | Ensembl ].
VAR_013962
Natural varianti314 – 3141Y → C in GLD. 1 Publication
VAR_013963
Natural varianti318 – 3181P → A in GLD. 1 Publication
VAR_003393
Natural varianti318 – 3181P → R in GLD. 1 Publication
VAR_064433
Natural varianti323 – 3231G → R in GLD. 1 Publication
VAR_064434
Natural varianti335 – 3351Y → C in GLD; infantile; significant reduction of activity. 1 Publication
VAR_013964
Natural varianti384 – 3841I → T in GLD. 1 Publication
VAR_064435
Natural varianti396 – 3961R → L in GLD. 1 Publication
VAR_064436
Natural varianti396 – 3961R → W in GLD; bilateral cherry red spots.
VAR_003394
Natural varianti400 – 4001P → L in GLD.
VAR_003395
Natural varianti426 – 4261W → G in GLD; infantile; significant reduction of activity. 1 Publication
VAR_013965
Natural varianti468 – 4681T → S in GLD.
Corresponds to variant rs34134328 [ dbSNP | Ensembl ].
VAR_003396
Natural varianti490 – 4901Y → N in GLD. 1 Publication
VAR_064437
Natural varianti514 – 5141F → S in GLD.
VAR_003397
Natural varianti529 – 5291T → M in GLD; infantile.
VAR_003398
Natural varianti531 – 5311R → C in GLD.
VAR_003399
Natural varianti531 – 5311R → H in GLD; infantile; significant reduction of activity. 1 Publication
VAR_013966
Natural varianti544 – 5441D → N in GLD; Arab patients. 1 Publication
VAR_003400
Natural varianti553 – 5531G → R in GLD; loss of activity. 1 Publication
VAR_013967
Natural varianti562 – 5621I → T Common polymorphism. 6 Publications
Corresponds to variant rs398607 [ dbSNP | Ensembl ].
VAR_003401
Natural varianti566 – 5661V → G in GLD. 1 Publication
VAR_003402
Natural varianti567 – 5671Y → S in GLD.
VAR_003403
Natural varianti592 – 5921A → S in GLD.
VAR_003404
Natural varianti599 – 5991I → S in GLD; infantile; Druze patients. 1 Publication
VAR_003405
Natural varianti634 – 6341L → S in GLD; adult. 1 Publication
VAR_013968
Natural varianti641 – 6411A → T Significant reduction of activity when associated with T-562. 3 Publications
Corresponds to variant rs421262 [ dbSNP | Ensembl ].
VAR_003406
Natural varianti645 – 6451L → R in GLD; adult.
VAR_003407
Natural varianti668 – 6681T → R in GLD; infantile; significant reduction of activity. 1 Publication
VAR_013969
Natural varianti681 – 6811V → M in GLD. 1 Publication
VAR_069512

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6565MAEWL…VSGGG → MLGKSHGRATHGPLPLADLG IHLPCVKVLHQVTPEEKPA in isoform 4. 1 PublicationVSP_036974Add
BLAST
Alternative sequencei1 – 6565MAEWL…VSGGG → MGFMVADLW in isoform 5. 1 PublicationVSP_036975Add
BLAST
Alternative sequencei66 – 8823Missing in isoform 3. 1 PublicationVSP_036976Add
BLAST
Alternative sequencei638 – 68548GHFAS…VEATR → VAGRRKKT in isoform 5. 1 PublicationVSP_036977Add
BLAST

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.
NP_001188330.1. NM_001201401.1.
NP_001188331.1. NM_001201402.1.
UniGeneiHs.513439.

Genome annotation databases

EnsembliENST00000544807; ENSP00000437513; ENSG00000054983. [P54803-5]
GeneIDi2581.
KEGGihsa:2581.
UCSCiuc001xvu.2. human. [P54803-1]
uc010tvx.2. human. [P54803-4]
uc010tvz.1. human. [P54803-5]

Polymorphism databases

DMDMi229462868.

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.
CCDSi CCDS55936.1. [P54803-3 ]
CCDS55937.1. [P54803-4 ]
CCDS9878.2. [P54803-1 ]
PIRi I54205.
RefSeqi NP_000144.2. NM_000153.3.
NP_001188330.1. NM_001201401.1.
NP_001188331.1. NM_001201402.1.
UniGenei Hs.513439.

3D structure databases

ProteinModelPortali P54803.
SMRi P54803. Positions 41-685.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108854. 8 interactions.
STRINGi 9606.ENSP00000261304.

Protein family/group databases

CAZyi GH59. Glycoside Hydrolase Family 59.

PTM databases

PhosphoSitei P54803.

Polymorphism databases

DMDMi 229462868.

Proteomic databases

MaxQBi P54803.
PaxDbi P54803.
PRIDEi P54803.

Protocols and materials databases

DNASUi 2581.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000544807 ; ENSP00000437513 ; ENSG00000054983 . [P54803-5 ]
GeneIDi 2581.
KEGGi hsa:2581.
UCSCi uc001xvu.2. human. [P54803-1 ]
uc010tvx.2. human. [P54803-4 ]
uc010tvz.1. human. [P54803-5 ]

Organism-specific databases

CTDi 2581.
GeneCardsi GC14M088399.
GeneReviewsi GALC.
H-InvDB HIX0026669.
HGNCi HGNC:4115. GALC.
HPAi CAB022196.
MIMi 245200. phenotype.
606890. gene.
neXtProti NX_P54803.
Orphaneti 206448. Adult Krabbe disease.
206436. Infantile Krabbe disease.
206443. Late-infantile/juvenile Krabbe disease.
PharmGKBi PA28530.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG76999.
GeneTreei ENSGT00390000003303.
HOGENOMi HOG000068033.
HOVERGENi HBG005800.
InParanoidi P54803.
KOi K01202.
PhylomeDBi P54803.
TreeFami TF312985.

Enzyme and pathway databases

Reactomei REACT_116105. Glycosphingolipid metabolism.

Miscellaneous databases

ChiTaRSi GALC. human.
GeneWikii Galactosylceramidase.
GenomeRNAii 2581.
NextBioi 10207.
PROi P54803.
SOURCEi Search...

Gene expression databases

Bgeei P54803.
CleanExi HS_GALC.
ExpressionAtlasi P54803. baseline and differential.
Genevestigatori P54803.

Family and domain databases

Gene3Di 3.20.20.80. 1 hit.
InterProi IPR001286. Glyco_hydro_59.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view ]
PANTHERi PTHR15172. PTHR15172. 1 hit.
Pfami PF02057. Glyco_hydro_59. 1 hit.
[Graphical view ]
PRINTSi PR00850. GLHYDRLASE59.
SUPFAMi SSF51445. SSF51445. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Structure and organization of the human galactocerebrosidase (GALC) gene."
    Luzi P., Rafi M.A., Wenger D.A.
    Genomics 26:407-409(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT THR-562.
  2. "Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization."
    Sakai N., Fukushima H., Inui K., Fu L., Nishigaki T., Yanagihara I., Tatsumi N., Ozono K., Okada S.
    Biochim. Biophys. Acta 1395:62-67(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-685 (ISOFORM 3), VARIANTS CYS-184 AND THR-562.
    Tissue: Testis and Thalamus.
  4. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT THR-641.
  5. "Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy."
    Chen Y.Q., Rafi M.A., de Gala G., Wenger D.A.
    Hum. Mol. Genet. 2:1841-1845(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-685 (ISOFORM 1), PROTEIN SEQUENCE OF 43-75 AND 452-470, CATALYTIC ACTIVITY, FUNCTION.
    Tissue: Testis.
  6. "Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase."
    Sakai N., Inui K., Fujii N., Fukushima H., Nishimoto J., Yanagihara I., Isegawa Y., Iwamatsu A., Okada S.
    Biochem. Biophys. Res. Commun. 198:485-491(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-685 (ISOFORM 1), PARTIAL PROTEIN SEQUENCE.
    Tissue: Placenta and Skin fibroblast.
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-685 (ISOFORM 1), VARIANT THR-562.
    Tissue: Testis.
  8. "Galactocerebrosidase from human urine: purification and partial characterization."
    Chen Y.Q., Wenger D.A.
    Biochim. Biophys. Acta 1170:53-61(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 43-61 AND 452-470, PARTIAL PROTEIN SEQUENCE, FUNCTION, CATALYTIC ACTIVITY, TISSUE SPECIFICITY.
    Tissue: Urine.
  9. "Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications."
    Wenger D.A., Rafi M.A., Luzi P.
    Hum. Mutat. 10:268-279(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON GLD MUTATIONS.
  10. "Krabbe disease: genetic aspects and progress toward therapy."
    Wenger D.A., Rafi M.A., Luzi P., Datto J., Costantino-Ceccarini E.
    Mol. Genet. Metab. 70:1-9(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  11. "A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease."
    Rafi M.A., Luzi P., Chen Y.Q., Wenger D.A.
    Hum. Mol. Genet. 4:1285-1289(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CYS-184.
  12. Cited for: VARIANTS GLD ALA-318 AND GLY-566.
  13. "Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy."
    De Gasperi R., Gama Sosa M.A., Sartorato E.L., Battistini S., MacFarlane H., Gusella J.F., Krivit W., Kolodny E.H.
    Am. J. Hum. Genet. 59:1233-1242(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLD HIS-79; SER-111; LEU-117; THR-250; SER-284 AND CYS-314, VARIANT THR-562.
  14. "Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel."
    Rafi M.A., Luzi P., Zlotogora J., Wenger D.A.
    Hum. Genet. 97:304-308(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLD ASN-544 AND SER-599.
  15. "Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients."
    Furuya H., Kukita Y.-J., Nagano S., Sakai Y., Yamashita Y., Fukuyama H., Inatomi Y., Saito Y., Koike R., Tsuji S., Fukumaki Y., Hayashi K., Kobayashi T.
    Hum. Genet. 100:450-456(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLD MET-82; ASP-286 AND SER-634, VARIANTS VAL-305 AND THR-562.
  16. Cited for: VARIANTS GLD ASP-286 AND ARG-553, VARIANT THR-641.
  17. Cited for: VARIANTS GLD ARG-59; PHE-68; ILE-278; CYS-335; GLY-426; HIS-531 AND ARG-668.
  18. "A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region."
    Lissens W., Arena A., Seneca S., Rafi M., Sorge G., Liebaers I., Wenger D., Fiumara A.
    Hum. Mutat. 28:742-742(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLD SER-41.
  19. "Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease."
    Tappino B., Biancheri R., Mort M., Regis S., Corsolini F., Rossi A., Stroppiano M., Lualdi S., Fiumara A., Bembi B., Di Rocco M., Cooper D.N., Filocamo M.
    Hum. Mutat. 31:E1894-E1914(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLD LYS-130; ARG-318; ARG-323; THR-384; LEU-396 AND ASN-490, VARIANTS PRO-21; CYS-184; ASN-248; THR-562 AND THR-641.
  20. "Four novel GALC gene mutations in two Chinese patients with Krabbe disease."
    Yang Y., Ren X., Xu Q., Wang C., Liu H., He X.
    Gene 519:381-384(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLD MET-681.

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: May 5, 2009
Last modified: October 29, 2014
This is version 142 of the entry and version 2 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

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

External Data

Dasty 3