Reviewed, UniProtKB/Swiss-Prot P54803 (GALC_HUMAN)

Names and origin

Protein names

Recommended name:
    Galactocerebrosidase
      Short name=GALCERase
    EC=3.2.1.46
Alternative name(s):
    Galactosylceramidase
    Galactosylceramide beta-galactosidase
    Galactocerebroside beta-galactosidase

Gene names

Name:

GALC

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	685 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	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.
Catalytic activity	D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine.
Subcellular location	Lysosome.
Tissue specificity	Highest level of activity in testes compared to brain, kidney, placenta and liver. Can also be found in urine.
Polymorphism	Polymorphic amino-acid changes are responsible for the wide range of catalytic activities found in the general population.
Involvement in disease	Defects in GALC are the cause of leukodystrophy globoid cell (GLD) [MIM:245200]; also known as Krabbe disease. This autosomal recessive disorder results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin. Clinically, the most frequent form is the infantile form. Most patients (90%) present 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. However, a significant number of cases with later onset, presenting with unexplained blindness, weakness and/or progressive motor, and sensory neuropathy that can progress to severe mental incapacity and death, have been identified. Ref.12 Ref.13 Ref.15 Ref.16 Ref.17 Ref.18
Sequence similarities	Belongs to the glycosyl hydrolase 59 family.
Caution	It is uncertain whether Met-1 or Met-17 is the initiator.
Biophysicochemical properties	pH dependence: Optimum pH is 4.0-4.4. Temperature dependence: Activity is lost after heating at 52 degrees Celsius for five minutes.

Ontologies

Keywords
Cellular component	Lysosome
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Leukodystrophy
Domain	Signal
Molecular function	Glycosidase Hydrolase
PTM	Glycoprotein
Technical term	Complete proteome Direct protein sequencing
Gene Ontology (GO)
Biological process	carbohydrate metabolic process Inferred from electronic annotation. Source: InterPro galactosylceramide catabolic process Inferred from electronic annotation. Source: InterPro
Cellular component	lysosome Ref.1 Traceable author statement. Source: ProtInc
Molecular function	cation binding Inferred from electronic annotation. Source: InterPro galactosylceramidase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P54803-1)

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.

Isoform 2 (identifier: P54803-2)

The sequence of this isoform differs from the canonical sequence as follows:
     388-407: SHKHSKCIRPFLPYFNVSQQ → VNFCCCYWINSLLYYWKNKI
     408-685: Missing.

Isoform 3 (identifier: P54803-3)

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

Note: No experimental confirmation available.

Isoform 4 (identifier: P54803-4)

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

Isoform 5 (identifier: P54803-5)

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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 42	42	Ref.5 Ref.8
	Chain	43 – 685	643	Galactocerebrosidase		PRO_0000012230
Amino acid modifications
	Glycosylation	143	1	N-linked (GlcNAc...) Potential
	Glycosylation	379	1	N-linked (GlcNAc...) Potential
	Glycosylation	403	1	N-linked (GlcNAc...) Potential
	Glycosylation	556	1	N-linked (GlcNAc...) Potential
	Glycosylation	559	1	N-linked (GlcNAc...) Potential
	Glycosylation	602	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 65	65	MAEWL…VSGGG → MLGKSHGRATHGPLPLTDLG IHLPCVKVLHQVTPEEKPA in isoform 4.		VSP_036974
	Alternative sequence	1 – 65	65	MAEWL…VSGGG → MGFMVADLW in isoform 5.		VSP_036975
	Alternative sequence	66 – 88	23	Missing in isoform 3.		VSP_036976
	Alternative sequence	388 – 407	20	SHKHS…NVSQQ → VNFCCCYWINSLLYYWKNKI in isoform 2.		VSP_001800
	Alternative sequence	408 – 685	278	Missing in isoform 2.		VSP_001801
	Alternative sequence	638 – 685	48	GHFAS…VEATR → VAGRRKKT in isoform 5.		VSP_036977
	Natural variant	59	1	G → R in GLD; infantile; significant reduction of activity. Ref.18		VAR_013956
	Natural variant	68	1	S → F in GLD; infantile; significant reduction of activity. Ref.18		VAR_013957
	Natural variant	79	1	R → H in GLD. Ref.13		VAR_013958
	Natural variant	82	1	I → M in GLD; adult; reduction of activity; when associated with V-2105. Ref.16		VAR_013959
	Natural variant	111	1	G → D in GLD.		VAR_003380
	Natural variant	111	1	G → S in GLD. Ref.13		VAR_003381
	Natural variant	112	1	T → A in GLD; adult.		VAR_003382
	Natural variant	117	1	M → L in GLD; adult. Ref.13		VAR_003383
	Natural variant	184	1	R → C: dbSNP rs1805078. Ref.3 Ref.11		VAR_013960
	Natural variant	187	1	D → V in GLD.		VAR_003384
	Natural variant	194	1	G → A in GLD.		VAR_003385
	Natural variant	248	1	D → N: dbSNP rs34362748.		VAR_003386
	Natural variant	250	1	I → T in GLD; late infantile. Ref.13		VAR_003387
	Natural variant	263	1	A → T in GLD.		VAR_003388
	Natural variant	278	1	T → I in GLD; infantile; significant reduction of activity. Ref.18		VAR_013961
	Natural variant	284	1	G → S in GLD. Ref.13		VAR_003389
	Natural variant	286	1	G → D in GLD. Ref.16 Ref.17		VAR_003390
	Natural variant	295	1	N → T in GLD.		VAR_003391
	Natural variant	303	1	S → F in GLD; infantile.		VAR_003392
	Natural variant	305	1	I → V: dbSNP rs1805079. Ref.16		VAR_013962
	Natural variant	314	1	Y → C in GLD. Ref.13		VAR_013963
	Natural variant	318	1	P → A in GLD. Ref.12		VAR_003393
	Natural variant	335	1	Y → C in GLD; infantile; significant reduction of activity. Ref.18		VAR_013964
	Natural variant	396	1	R → W in GLD; bilateral cherry red spots.		VAR_003394
	Natural variant	400	1	P → L in GLD.		VAR_003395
	Natural variant	426	1	W → G in GLD; infantile; significant reduction of activity. Ref.18		VAR_013965
	Natural variant	468	1	T → S in GLD.		VAR_003396
	Natural variant	514	1	F → S in GLD.		VAR_003397
	Natural variant	529	1	T → M in GLD; infantile.		VAR_003398
	Natural variant	531	1	R → C in GLD.		VAR_003399
	Natural variant	531	1	R → H in GLD; infantile; significant reduction of activity. Ref.18		VAR_013966
	Natural variant	544	1	D → N in GLD; Arab patients. Ref.15		VAR_003400
	Natural variant	553	1	G → R in GLD; loss of activity. Ref.17		VAR_013967
	Natural variant	562	1	I → T Common polymorphism. dbSNP rs398607. Ref.13 Ref.16 Ref.3 Ref.1 Ref.7		VAR_003401
	Natural variant	566	1	V → G in GLD. Ref.12		VAR_003402
	Natural variant	567	1	Y → S in GLD; belgian patient.		VAR_003403
	Natural variant	592	1	A → S in GLD.		VAR_003404
	Natural variant	599	1	I → S in GLD; infantile; Druze patients. Ref.15		VAR_003405
	Natural variant	634	1	L → S in GLD; adult. Ref.16		VAR_013968
	Natural variant	641	1	A → T Significant reduction of activity when associated with T-562. dbSNP rs421262. Ref.17 Ref.4		VAR_003406
	Natural variant	645	1	L → R in GLD; adult.		VAR_003407
	Natural variant	668	1	T → R in GLD; infantile; significant reduction of activity. Ref.18		VAR_013969
Experimental info
	Sequence conflict	78	1	Y → H in BAH13778. Ref.1
	Sequence conflict	195	1	I → T in BAG64110. Ref.1
	Sequence conflict	422	1	E → G in BAG64110. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 5, 2009. Version 2. Checksum: 03F3D223291AD5A0	FASTA	685	77,033
	10 20 30 40 50 60 MAEWLLSASW QRRAKAMTAA AGSAGRAAVP LLLCALLAPG GAYVLDDSDG LGREFDGIGA 70 80 90 100 110 120 VSGGGATSRL LVNYPEPYRS QILDYLFKPN FGASLHILKV EIGGDGQTTD GTEPSHMHYA 130 140 150 160 170 180 LDENYFRGYE WWLMKEAKKR NPNITLIGLP WSFPGWLGKG FDWPYVNLQL TAYYVVTWIV 190 200 210 220 230 240 GAKRYHDLDI DYIGIWNERS YNANYIKILR KMLNYQGLQR VKIIASDNLW ESISASMLLD 250 260 270 280 290 300 AELFKVVDVI GAHYPGTHSA KDAKLTGKKL WSSEDFSTLN SDMGAGCWGR ILNQNYINGY 310 320 330 340 350 360 MTSTIAWNLV ASYYEQLPYG RCGLMTAQEP WSGHYVVESP VWVSAHTTQF TQPGWYYLKT 370 380 390 400 410 420 VGHLEKGGSY VALTDGLGNL TIIIETMSHK HSKCIRPFLP YFNVSQQFAT FVLKGSFSEI 430 440 450 460 470 480 PELQVWYTKL GKTSERFLFK QLDSLWLLDS DGSFTLSLHE DELFTLTTLT TGRKGSYPLP 490 500 510 520 530 540 PKSQPFPSTY KDDFNVDYPF FSEAPNFADQ TGVFEYFTNI EDPGEHHFTL RQVLNQRPIT 550 560 570 580 590 600 WAADASNTIS IIGDYNWTNL TIKCDVYIET PDTGGVFIAG RVNKGGILIR SARGIFFWIF 610 620 630 640 650 660 ANGSYRVTGD LAGWIIYALG RVEVTAKKWY TLTLTIKGHF ASGMLNDKSL WTDIPVNFPK 670 680 NGWAAIGTHS FEFAQFDNFL VEATR
	Isoform 2. Checksum: 80319754B22A35BD	FASTA	407	45,734
	10 20 30 40 50 60 MAEWLLSASW QRRAKAMTAA AGSAGRAAVP LLLCALLAPG GAYVLDDSDG LGREFDGIGA 70 80 90 100 110 120 VSGGGATSRL LVNYPEPYRS QILDYLFKPN FGASLHILKV EIGGDGQTTD GTEPSHMHYA 130 140 150 160 170 180 LDENYFRGYE WWLMKEAKKR NPNITLIGLP WSFPGWLGKG FDWPYVNLQL TAYYVVTWIV 190 200 210 220 230 240 GAKRYHDLDI DYIGIWNERS YNANYIKILR KMLNYQGLQR VKIIASDNLW ESISASMLLD 250 260 270 280 290 300 AELFKVVDVI GAHYPGTHSA KDAKLTGKKL WSSEDFSTLN SDMGAGCWGR ILNQNYINGY 310 320 330 340 350 360 MTSTIAWNLV ASYYEQLPYG RCGLMTAQEP WSGHYVVESP VWVSAHTTQF TQPGWYYLKT 370 380 390 400 VGHLEKGGSY VALTDGLGNL TIIIETMVNF CCCYWINSLL YYWKNKI
	Isoform 3. Checksum: EDEF265721A257AF	FASTA	662	74,264
	10 20 30 40 50 60 MAEWLLSASW QRRAKAMTAA AGSAGRAAVP LLLCALLAPG GAYVLDDSDG LGREFDGIGA 70 80 90 100 110 120 VSGGGPNFGA SLHILKVEIG GDGQTTDGTE PSHMHYALDE NYFRGYEWWL MKEAKKRNPN 130 140 150 160 170 180 ITLIGLPWSF PGWLGKGFDW PYVNLQLTAY YVVTWIVGAK RYHDLDIDYI GIWNERSYNA 190 200 210 220 230 240 NYIKILRKML NYQGLQRVKI IASDNLWESI SASMLLDAEL FKVVDVIGAH YPGTHSAKDA 250 260 270 280 290 300 KLTGKKLWSS EDFSTLNSDM GAGCWGRILN QNYINGYMTS TIAWNLVASY YEQLPYGRCG 310 320 330 340 350 360 LMTAQEPWSG HYVVESPVWV SAHTTQFTQP GWYYLKTVGH LEKGGSYVAL TDGLGNLTII 370 380 390 400 410 420 IETMSHKHSK CIRPFLPYFN VSQQFATFVL KGSFSEIPEL QVWYTKLGKT SERFLFKQLD 430 440 450 460 470 480 SLWLLDSDGS FTLSLHEDEL FTLTTLTTGR KGSYPLPPKS QPFPSTYKDD FNVDYPFFSE 490 500 510 520 530 540 APNFADQTGV FEYFTNIEDP GEHHFTLRQV LNQRPITWAA DASNTISIIG DYNWTNLTIK 550 560 570 580 590 600 CDVYIETPDT GGVFIAGRVN KGGILIRSAR GIFFWIFANG SYRVTGDLAG WIIYALGRVE 610 620 630 640 650 660 VTAKKWYTLT LTIKGHFASG MLNDKSLWTD IPVNFPKNGW AAIGTHSFEF AQFDNFLVEA TR
	Isoform 4. Checksum: A4E4FE84BCF71D43	FASTA	659	74,764
	10 20 30 40 50 60 MLGKSHGRAT HGPLPLTDLG IHLPCVKVLH QVTPEEKPAA TSRLLVNYPE PYRSQILDYL 70 80 90 100 110 120 FKPNFGASLH ILKVEIGGDG QTTDGTEPSH MHYALDENYF RGYEWWLMKE AKKRNPNITL 130 140 150 160 170 180 IGLPWSFPGW LGKGFDWPYV NLQLTAYYVV TWIVGAKRYH DLDIDYIGIW NERSYNANYI 190 200 210 220 230 240 KILRKMLNYQ GLQRVKIIAS DNLWESISAS MLLDAELFKV VDVIGAHYPG THSAKDAKLT 250 260 270 280 290 300 GKKLWSSEDF STLNSDMGAG CWGRILNQNY INGYMTSTIA WNLVASYYEQ LPYGRCGLMT 310 320 330 340 350 360 AQEPWSGHYV VESPVWVSAH TTQFTQPGWY YLKTVGHLEK GGSYVALTDG LGNLTIIIET 370 380 390 400 410 420 MSHKHSKCIR PFLPYFNVSQ QFATFVLKGS FSEIPELQVW YTKLGKTSER FLFKQLDSLW 430 440 450 460 470 480 LLDSDGSFTL SLHEDELFTL TTLTTGRKGS YPLPPKSQPF PSTYKDDFNV DYPFFSEAPN 490 500 510 520 530 540 FADQTGVFEY FTNIEDPGEH HFTLRQVLNQ RPITWAADAS NTISIIGDYN WTNLTIKCDV 550 560 570 580 590 600 YIETPDTGGV FIAGRVNKGG ILIRSARGIF FWIFANGSYR VTGDLAGWII YALGRVEVTA 610 620 630 640 650 KKWYTLTLTI KGHFASGMLN DKSLWTDIPV NFPKNGWAAI GTHSFEFAQF DNFLVEATR
	Isoform 5. Checksum: 0859D4E53CD87B64	FASTA	589	67,184
	10 20 30 40 50 60 MGFMVADLWA TSRLLVNYPE PYRSQILDYL FKPNFGASLH ILKVEIGGDG QTTDGTEPSH 70 80 90 100 110 120 MHYALDENYF RGYEWWLMKE AKKRNPNITL IGLPWSFPGW LGKGFDWPYV NLQLTAYYVV 130 140 150 160 170 180 TWIVGAKRYH DLDIDYIGIW NERSYNANYI KILRKMLNYQ GLQRVKIIAS DNLWESISAS 190 200 210 220 230 240 MLLDAELFKV VDVIGAHYPG THSAKDAKLT GKKLWSSEDF STLNSDMGAG CWGRILNQNY 250 260 270 280 290 300 INGYMTSTIA WNLVASYYEQ LPYGRCGLMT AQEPWSGHYV VESPVWVSAH TTQFTQPGWY 310 320 330 340 350 360 YLKTVGHLEK GGSYVALTDG LGNLTIIIET MSHKHSKCIR PFLPYFNVSQ QFATFVLKGS 370 380 390 400 410 420 FSEIPELQVW YTKLGKTSER FLFKQLDSLW LLDSDGSFTL SLHEDELFTL TTLTTGRKGS 430 440 450 460 470 480 YPLPPKSQPF PSTYKDDFNV DYPFFSEAPN FADQTGVFEY FTNIEDPGEH HFTLRQVLNQ 490 500 510 520 530 540 RPITWAADAS NTISIIGDYN WTNLTIKCDV YIETPDTGGV FIAGRVNKGG ILIRSARGIF 550 560 570 580 FWIFANGSYR VTGDLAGWII YALGRVEVTA KKWYTLTLTI KVAGRRKKT

References

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[1]	"Structure and organization of the human galactocerebrosidase (GALC) gene." Luzi P., Rafi M.A., Wenger D.A. Genomics 26:407-409(1995) [PubMed: 7601472] [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: 9434153] [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: 14702039] [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: 12508121] [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: 8281145] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-685 (ISOFORM 1), PROTEIN SEQUENCE OF 43-75 AND 452-470. 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: 8297359] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-685 (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 5-685 (ISOFORM 2), 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: 15489334] [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: 8399327] [Abstract] Cited for: PROTEIN SEQUENCE OF 43-61 AND 452-470, CHARACTERIZATION. 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: 9338580] [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: 10833326] [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: 7581365] [Abstract] Cited for: VARIANT CYS-184.
[12]	"Molecular defects in Krabbe disease." Tatsumi N., Inui K., Sakai N., Fukushima H., Nishimoto J., Yanagihara I., Nishigaki T., Tsukamoto H., Fu L., Taniike M., Okada S. Hum. Mol. Genet. 4:1865-1868(1995) [PubMed: 8595408] [Abstract] 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: 8940268] [Abstract] Cited for: VARIANTS GLD HIS-79; SER-111; LEU-117; THR-250; SER-284 AND CYS-314, VARIANT THR-562.
[14]	Erratum 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. 60:1264-1264(1997)
[15]	"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: 8786069] [Abstract] Cited for: VARIANTS GLD ASN-544 AND SER-599.
[16]	"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: 9272171] [Abstract] Cited for: VARIANTS GLD MET-82; ASP-286 AND SER-634, VARIANTS VAL-305 AND THR-562.
[17]	"Molecular basis of late-life globoid cell leukodystrophy." De Gasperi R., Gama Sosa M.A., Sartorato E.L., Battistini S., Raghavan S., Kolodny E.H. Hum. Mutat. 14:256-262(1999) [PubMed: 10477434] [Abstract] Cited for: VARIANTS GLD ASP-286 AND ARG-553, VARIANT THR-641.
[18]	"Molecular heterogeneity of Krabbe disease." Fu L., Inui K., Nishigaki T., Tatsumi N., Tsukamoto H., Kokubu C., Muramatsu T., Okada S. J. Inherit. Metab. Dis. 22:155-162(1999) [PubMed: 10234611] [Abstract] Cited for: VARIANTS GLD ARG-59; PHE-68; ILE-278; CYS-335; GLY-426; HIS-531 AND ARG-668.
+	Additional computationally mapped references.

Web resources

GeneDis

Krabbe disease website

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	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. Different initiation. BC036518 mRNA. Translation: AAH36518.1. Different initiation.
IPI	IPI00220546. IPI00872350. IPI00929364. IPI00929592. IPI00929718.
PIR	I54205.
RefSeq	NP_000144.2. NP_001032614.1.
UniGene	Hs.513439
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	P54803.
Protein family/group databases
CAZy	GH59. Glycoside Hydrolase Family 59.
Genome annotation databases
Ensembl	ENST00000261304; ENSP00000261304; ENSG00000054983; Homo sapiens. [Genome view] ENST00000393568; ENSP00000377198; ENSG00000054983; Homo sapiens. [Genome view] ENST00000393569; ENSP00000377199; ENSG00000054983; Homo sapiens. [Genome view] ENST00000445021; ENSP00000388697; ENSG00000054983; Homo sapiens. [Genome view] ENST00000457555; ENSP00000399914; ENSG00000054983; Homo sapiens. [Genome view]
GeneID	2581.
KEGG	hsa:2581.
UCSC	uc001xvt.1. human. uc001xvu.1. human.
Organism-specific databases
CTD	2581.
GeneCards	GC14M087469.
H-InvDB	HIX0026669.
HGNC	HGNC:4115. GALC.
HPA	CAB022196.
MIM	245200. phenotype. 606890. gene.
Orphanet	487. Krabbe disease.
PharmGKB	PA28530.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P54803.
HOVERGEN	P54803.
Enzyme and pathway databases
BRENDA	3.2.1.46. 247.
Gene expression databases
ArrayExpress	P54803.
Bgee	P54803.
CleanEx	HS_GALC.
Genevestigator	P54803.
GermOnline	ENSG00000054983. Homo sapiens.
Family and domain databases
InterPro	IPR001286. Glyco_hydro_59. IPR013781. Glyco_hydro_sg_catalytic. [Graphical view]
Gene3D	G3DSA:3.20.20.80. Glyco_hydro_cat. 1 hit.
PANTHER	PTHR15172. Glyco_hydro_59. 1 hit.
Pfam	PF02057. Glyco_hydro_59. 1 hit. [Graphical view]
PRINTS	PR00850. GLHYDRLASE59.
ProtoNet	Search...
Other Resources
NextBio	10207.
SOURCE	Search...

Entry information

Entry name

GALC_HUMAN

Accession

Primary (citable) accession number: P54803
Secondary accession number(s): B4DKE8 , B4DYN1, B4DZJ8, B7Z7Z2, Q8J030

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	May 5, 2009
Last modified:	October 13, 2009
This is version 92 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.