Signal Peptide Website


Signal Peptide Website: Search my Protein

 Entry Details
ID   26600
Source Database   UniProtKB/Swiss-Prot
UniProtKB/Swiss-Prot Accession Number   P04062    (Created: 1986-11-01 Updated: 2009-01-20)
UniProtKB/Swiss-Prot Entry Name   GLCM_HUMAN
Protein Name   Glucosylceramidase
Gene   GBA
Organism Scientific   Homo sapiens
Organism Common   Human
Lineage   Eukaryota
  Metazoa
    Chordata
      Craniata
        Vertebrata
          Euteleostomi
            Mammalia
              Eutheria
                Euarchontoglires
                  Primates
                    Haplorrhini
                      Catarrhini
                        Hominidae
                          Homo
Protein Length [aa]   536
Protein Mass [Da]   59716
Features  
TypeDescriptionStatusStartEnd
signal peptide   In isoform Long      1   39
signal peptide   In isoform Short      21   39
chain   Glucosylceramidase      40   536
disulfide bond         43   55
disulfide bond         57   62
glycosylation site   N-linked (GlcNAc...)      58   58
glycosylation site   N-linked (GlcNAc...)      98   98
glycosylation site   N-linked (GlcNAc...)      185   185
glycosylation site   N-linked (GlcNAc...)      309   309
glycosylation site   N-linked (GlcNAc...)   potential   501   501
sequence variant   (in GD)      0   0
sequence variant   (in GD; mild)      0   0
sequence variant   (in GD; 8% of normal activity; increases susceptibility to proteolytic degradation)      0   0
sequence variant   (in GD; mild)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; dbSNP:rs2230289)      0   0
sequence variant   (in GD; common mutation; alters interaction with saposin-C, membranes, thereby reduces enzyme activity; mild)      0   0
sequence variant   (in GD; 15% of normal activity; increases susceptibility to proteolytic degradation)      0   0
sequence variant   (in GD; mild)      0   0
sequence variant   (in GD; type 2)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; 22% of normal activity)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; 4% of normal activity)      0   0
sequence variant   (in GD; type 2)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; mild)      0   0
sequence variant   (in GD; 5% of normal activity)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; mild)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; type 2; 16% of normal activity; increases susceptibility to proteolytic degradation)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in perinatal lethal GD)      0   0
sequence variant   (in GD; mild)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; 6% of normal activity)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; type 2)      0   0
sequence variant   (in GD; mild; 42% of normal activity; dbSNP:rs2230288)      0   0
sequence variant   (in dbSNP:rs1064648)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; type 2; loss of activity)      0   0
sequence variant   (in GD; 12% of normal activity)      0   0
sequence variant   (in GD; type 2)      0   0
sequence variant   (in GD; 17% of normal activity)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; type 1; associated with R- 490; loss of activity)      0   0
sequence variant   (in GD; severe)      0   0
sequence variant   (in GD; type 1, type 2; common mutation; gene conversion; very low activity; alters protein stability)      0   0
sequence variant   (in GD; severe)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; type 1; associated with D- 460)      0   0
sequence variant   (in GD; gene conversion; dbSNP:rs368060)      0   0
sequence variant   (in GD; 10% of normal activity; increases susceptibility to proteolytic degradation)      0   0
sequence variant   (in GD; type 2)      0   0
sequence variant   (in GD; 37% of normal activity)      0   0
sequence variant   (in GD; loss of activity; increases susceptibility to proteolytic degradation)      0   0
sequence variant         0   0
sequence variant   (in GD; type 2)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; type 3; severe)      0   0
sequence variant   (in GD; mild)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; loss of activity; increases susceptibility to proteolytic degradation)      0   0
sequence variant   (in GD; type 2)      0   0
sequence variant   (in GD; type 2)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; severe; 12% of normal activity)      0   0
sequence variant   (in GD; mild)      0   0
sequence variant   (in GD; 6% of normal activity; alters protein stability, increases susceptibility to proteolytic degradation)      0   0
sequence variant   (in perinatal lethal GD)      0   0
sequence variant   (in GD; type 3)      0   0
sequence variant   (in GD; type 1, type 2; 14% of normal activity; increases susceptibility to proteolytic degradation)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; type 3)      0   0
sequence variant   (in GD; mild)      0   0
sequence variant   (in GD; type 1, type neuronopathic; at homozygosity it causes Gaucher disease type 3C; gene conversion; very low activity; alters protein stability; dbSNP:rs1064651)      0   0
sequence variant   (in GD; severe; very low activity; alters protein stability)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; mild)      0   0
sequence variant   (in GD; type 1)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; 16% of normal activity)      0   0
sequence variant   (in GD; mild)      0   0
sequence variant   (in GD; loss of activity; increases susceptibility to proteolytic degradation)      0   0
sequence variant   (in GD; 9% of normal activity; increases susceptibility to proteolytic degradation)      0   0
sequence variant   (in GD; type 1, type 2)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; severe)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; 5% of normal activity)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; severe)      0   0
sequence variant   (in GD; type 2; 13% of normal activity)      0   0
sequence variant   (in GD; neuronopathic, perinatal lethal forms; loss of activity)      0   0
sequence variant   (in GD; type 1; very low activity)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; type 2; dbSNP:rs1141808)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; 20% of normal activity)      0   0
sequence variant   (in GD; mild; dbSNP:rs1141814)      0   0
sequence variant   (in dbSNP:rs3205619)      0   0
sequence variant   (in GD; mild; 8% of normal activity; increases susceptibility to proteolytic degradation)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; type 2)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; type 1; very low activity)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; 12% of normal activity)      0   0
sequence variant   (in GD; type 1, type 2; gene conversion)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; type 2; gene conversion; dbSNP:rs381737)      0   0
sequence variant   (in GD; mild)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; perinatal lethal form)      0   0
sequence variant   (in GD; type 1, type 2)      0   0
sequence variant   (in GD; type 2)      0   0
sequence variant   (in GD; type 2; 4% of normal activity)      0   0
sequence variant   (in GD; 5% of normal activity)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; mild)      0   0
sequence variant   (in dbSNP:rs1057942)      0   0
sequence variant   (in GD; less than 5% of normal activity)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; severe; loss of activity; increases susceptibility to proteolytic degradation)      0   0
sequence variant   (in GD; type 2; gene conversion; dbSNP:rs1064644)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; type 2)      0   0
sequence variant   (in GD; type 1; very low activity)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; gene conversion)      0   0
sequence variant   (in GD; 4% of normal activity; increases susceptibility to proteolytic degradation)      0   0
sequence variant   (in GD; gene conversion; dbSNP:rs381418)      0   0
sequence variant   (in GD; type 2; dbSNP:rs364897)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; type 2)      0   0
sequence variant   (in GD)      0   0
sequence variant   (in GD; type 1; very low activity)      0   0
sequence variant   (in GD; mild; gene conversion; dbSNP:rs381427)      0   0
sequence variant   (in GD; 7% of normal activity)      0   0
sequence variant   (in GD; severe)      0   0
sequence variant   (in GD)      0   0
strand         49   52
strand         54   60
strand         75   82
strand         88   94
strand         96   98
strand         103   116
strand         119   123
strand         157   163
strand         166   170
strand         177   179
strand         212   218
strand         229   233
strand         235   238
strand         267   271
strand         315   323
strand         346   352
strand         373   381
strand         414   422
strand         440   444
strand         449   452
strand         471   479
strand         482   489
strand         495   501
strand         503   505
strand         507   513
strand         517   523
strand         527   533
helix         126   132
helix         137   148
helix         190   193
helix         196   206
helix         222   224
helix         243   261
helix         277   279
helix         292   301
helix         303   308
helix         324   326
helix         329   335
helix         338   341
helix         359   369
helix         396   411
helix         445   447
helix         454   463
active site   Proton donor      274   274
active site   Nucleophile      379   379
splice variant   (in isoform 3)      0   0
splice variant   (in isoform Short)      1   20
splice variant   (in isoform 3)      1   161
splice variant   (in isoform 3)      425   536
mutagenesis site   Loss of activity      0   0
mutagenesis site   Loss of activity      0   0
mutagenesis site   Decreases activity 1000-fold      0   0
mutagenesis site   Loss of activity      0   0
turn         150   153
turn         311   314
turn         514   516
SP Length   39
 ----+----1----+----2----+----3----+----4----+----5
Signal Peptide MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASG
Sequence MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGY
SSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHT
GTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSE
EGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLI
HRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWAR
YFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIA
RDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVH
WYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGM
QYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTF
YKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVL
NRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
Original MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGY
SSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHT
GTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSE
EGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLI
HRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWAR
YFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIA
RDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVH
WYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGM
QYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTF
YKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVL
NRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
 ----+----1----+----2----+----3----+----4----+----5
Hydropathies  
 
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