P04062: Lysosomal acid glucosylceramidase {ECO:0000305}

General Information

Protein names	- Lysosomal acid glucosylceramidase {ECO:0000305} - Lysosomal acid GCase {ECO:0000303\|PubMed:24211208} - 3.2.1.45 {ECO:0000269\|PubMed:16293621, ECO:0000269\|PubMed:24211208, ECO:0000269\|PubMed:9201993} - Acid beta-glucosidase - Alglucerase - Beta-glucocerebrosidase - Beta-GC - Cholesterol glucosyltransferase {ECO:0000305\|PubMed:24211208} - SGTase {ECO:0000303\|PubMed:24211208} - 2.4.1.- {ECO:0000269\|PubMed:24211208, ECO:0000269\|PubMed:26724485} - Cholesteryl-beta-glucosidase {ECO:0000305\|PubMed:24211208} - 3.2.1.104 {ECO:0000269\|PubMed:24211208, ECO:0000269\|PubMed:26724485} - D-glucosyl-N-acylsphingosine glucohydrolase - Imiglucerase
Gene names	GBA
Organism	Homo sapiens
Protease Family
Protease ID
Chromosome location
UniProt ID	P04062

5 N-termini

1 C-termini

0 Cleavages

0 Substrates

Sequence

Isoforms

- Isoform Short of Glucosylceramidase - Isoform 3 of Glucosylceramidase - Isoform 4 of Glucosylceramidase - Isoform 5 of Glucosylceramidase - Isoform Short of Lysosomal acid glucosylceramidase - Isoform 3 of Lysosomal acid glucosylceramidase - Isoform 4 of Lysosomal acid glucosylceramidase - Isoform 5 of Lysosomal acid glucosylceramidase

Sequence View

        10         20         30         40         50         60
MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
        70         80         90        100        110        120
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
       130        140        150        160        170        180
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
       190        200        210        220        230        240
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
       250        260        270        280        290        300
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
       310        320        330        340        350        360
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
       370        380        390        400        410        420
ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
       430        440        450        460        470        480
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
       490        500        510        520        530
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ         10         20         30         40         50         60
MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
        70         80         90        100        110        120
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
       130        140        150        160        170        180
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
       190        200        210        220        230        240
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
       250        260        270        280        290        300
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
       310        320        330        340        350        360
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
       370        380        390        400        410        420
ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
       430        440        450        460        470        480
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
       490        500        510        520        530
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ         10         20         30         40         50         60
MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
        70         80         90        100        110        120
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
       130        140        150        160        170        180
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
       190        200        210        220        230        240
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
       250        260        270        280        290        300
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
       310        320        330        340        350        360
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
       370        380        390        400        410        420
ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
       430        440        450        460        470        480
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
       490        500        510        520        530
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ         10         20         30         40         50         60
MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
        70         80         90        100        110        120
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
       130        140        150        160        170        180
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
       190        200        210        220        230        240
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
       250        260        270        280        290        300
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
       310        320        330        340        350        360
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
       370        380        390        400        410        420
ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
       430        440        450        460        470        480
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
       490        500        510        520        530
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ         10         20         30         40         50         60
MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
        70         80         90        100        110        120
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
       130        140        150        160        170        180
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
       190        200        210        220        230        240
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
       250        260        270        280        290        300
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
       310        320        330        340        350        360
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
       370        380        390        400        410        420
ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
       430        440        450        460        470        480
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
       490        500        510        520        530
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ         10         20         30         40         50         60
MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
        70         80         90        100        110        120
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
       130        140        150        160        170        180
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
       190        200        210        220        230        240
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
       250        260        270        280        290        300
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
       310        320        330        340        350        360
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
       370        380        390        400        410        420
ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
       430        440        450        460        470        480
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
       490        500        510        520        530
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ         10         20         30         40         50         60
MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
        70         80         90        100        110        120
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
       130        140        150        160        170        180
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
       190        200        210        220        230        240
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
       250        260        270        280        290        300
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
       310        320        330        340        350        360
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
       370        380        390        400        410        420
ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
       430        440        450        460        470        480
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
       490        500        510        520        530
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ         10         20         30         40         50         60
MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
        70         80         90        100        110        120
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
       130        140        150        160        170        180
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
       190        200        210        220        230        240
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
       250        260        270        280        290        300
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
       310        320        330        340        350        360
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
       370        380        390        400        410        420
ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
       430        440        450        460        470        480
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
       490        500        510        520        530
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ

Filter Information:

(REFRESH)

Directness:

Physiological Relevance:

Evidence Codes:

Methodology:

Perturbation of System:

Biological System:

Protease Assignment Confidence:

Evidence Names:

Database:

Lab:

Protein Neighborhood

Domains & Features

5 N-termini - 1 C-termini - 0 Cleavages - 0 Substrates

N-termini

Name	Sequence	Position	Evidence type	Method	Source (database)	Evidence name
P04062-1-unknown	MEFSSP...	1	inferred from isoform by sequence similarity	unknown	TopFIND	inferred from TNt76017
P04062-21-unknown	MAGSLT...	21	inferred from isoform by sequence similarity	unknown	TopFIND	inferred from TNt76014
P04062-21-unknown	MAGSLT...	21	inferred from isoform by sequence similarity	unknown	TopFIND	inferred from TNt109057
P04062-40-unknown	ARPCIP...	40	inferred from electronic annotation	electronic annotation	UniProtKB	inferred from uniprot
P04062-40-unknown	ARPCIP...	40	inferred from isoform by sequence similarity	unknown	TopFIND	inferred from TNt115401
P04062-40-unknown	ARPCIP...	40	inferred from isoform by sequence similarity	unknown	TopFIND	inferred from TNt115400
P04062-88-unknown	MELSMG...	88	inferred from isoform by sequence similarity	unknown	TopFIND	inferred from TNt76016
P04062-88-unknown	MELSMG...	88	inferred from electronic annotation	unknown	Ensembl	inferred from ensembl protein ENSP00000397986
P04062-88-unknown	MELSMG...	88	inferred from isoform by sequence similarity	unknown	TopFIND	inferred from TNt109165
P04062-162-unknown	MASCDF...	162	inferred from isoform by sequence similarity	unknown	TopFIND	inferred from TNt76015
P04062-162-unknown	MASCDF...	162	inferred from isoform by sequence similarity	unknown	TopFIND	inferred from TNt109111
P04062-162-unknown	MASCDF...	162	inferred from isoform by sequence similarity	unknown	TopFIND	inferred from TNt109110
P04062-162-unknown	MASCDF...	162	inferred from isoform by sequence similarity	unknown	TopFIND	inferred from TNt109112

C-termini

Sequence	Position	Evidence type	Method	Source (database)	Evidence name
...LWRRQ	536	inferred from electronic annotation	electronic annotation	UniProtKB	inferred from uniprot
...LWRRQ	536	inferred from isoform by sequence similarity	unknown	TopFIND	inferred from TCt71634
...LWRRQ	536	inferred from isoform by sequence similarity	unknown	TopFIND	inferred from TCt71635
...LWRRQ	536	inferred from isoform by sequence similarity	unknown	TopFIND	inferred from TCt71632

Cleavages

Protease	Position	Sequence	Evidence type	Method	Source (database)	Source (Lab)	Evidence name	Publications (PMIDs)

Substrates

Substrate	Position	Sequence	Evidence type	Method	Source (database)	Source (Lab)	Evidence name	Publications (PMIDs)