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P54803

- GALC_HUMAN

UniProt

P54803 - GALC_HUMAN

Protein

Galactocerebrosidase

Gene

GALC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 2 (05 May 2009)
      Previous versions | rss
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    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

    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
    4. mitochondrion Source: Ensembl

    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

    ArrayExpressiP54803.
    BgeeiP54803.
    CleanExiHS_GALC.
    GenevestigatoriP54803.

    Organism-specific databases

    HPAiCAB022196.

    Interactioni

    Protein-protein interaction databases

    BioGridi108854. 1 interaction.
    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.
    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

    MAEWLLSASW QRRAKAMTAA AGSAGRAAVP LLLCALLAPG GAYVLDDSDG    50
    LGREFDGIGA VSGGGATSRL LVNYPEPYRS QILDYLFKPN FGASLHILKV 100
    EIGGDGQTTD GTEPSHMHYA LDENYFRGYE WWLMKEAKKR NPNITLIGLP 150
    WSFPGWLGKG FDWPYVNLQL TAYYVVTWIV GAKRYHDLDI DYIGIWNERS 200
    YNANYIKILR KMLNYQGLQR VKIIASDNLW ESISASMLLD AELFKVVDVI 250
    GAHYPGTHSA KDAKLTGKKL WSSEDFSTLN SDMGAGCWGR ILNQNYINGY 300
    MTSTIAWNLV ASYYEQLPYG RCGLMTAQEP WSGHYVVESP VWVSAHTTQF 350
    TQPGWYYLKT VGHLEKGGSY VALTDGLGNL TIIIETMSHK HSKCIRPFLP 400
    YFNVSQQFAT FVLKGSFSEI PELQVWYTKL GKTSERFLFK QLDSLWLLDS 450
    DGSFTLSLHE DELFTLTTLT TGRKGSYPLP PKSQPFPSTY KDDFNVDYPF 500
    FSEAPNFADQ TGVFEYFTNI EDPGEHHFTL RQVLNQRPIT WAADASNTIS 550
    IIGDYNWTNL TIKCDVYIET PDTGGVFIAG RVNKGGILIR SARGIFFWIF 600
    ANGSYRVTGD LAGWIIYALG RVEVTAKKWY TLTLTIKGHF ASGMLNDKSL 650
    WTDIPVNFPK NGWAAIGTHS FEFAQFDNFL VEATR 685
    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 BAA04972.1 differs from that shown. Reason: Probable intron retention.
    The sequence AAA16645.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAA80975.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAH36518.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA04971.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA04972.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA24902.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAG59160.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 1 interaction.
    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.
    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

    ArrayExpressi P54803.
    Bgeei P54803.
    CleanExi HS_GALC.
    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

    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 1, 2014
    This is version 141 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