Gene name: GBA3

Uniprot entry:

Q9H227

Protein names:

Cytosolic beta-glucosidase (EC 3.2.1.21) (Cytosolic beta-glucosidase-like protein 1) (Cytosolic galactosylceramidase) (EC 3.2.1.46) (Cytosolic glucosylceramidase) (EC 3.2.1.45) (Cytosolic glycosylceramidase) (Cytosolic GCase) (Glucosidase beta acid 3) (Glucosylceramidase beta 3) (Klotho-related protein) (KLrP)

Protein sequence:

1_MAFPA 6_ GFGWA 11_ AATAA 16_ YQVEG 21_ GWDAD 26_ GKGPC 31_ VWDTF 36_ THQGG 41_ ERVFK 46_ NQTGD 51_ VACGS 56_ YTLWE 61_ EDLKC 66_ IKQLG 71_ LTHYR 76_ FSLSW 81_ SRLLP 86_ DGTTG 91_ FINQK 96_ GIDYY 101_ NKIID 106_ DLLKN 111_ GVTPI 116_ VTLYH 121_ FDLPQ 126_ TLEDQ 131_ GGWLS 136_ EAIIE 141_ SFDKY 146_ AQFCF 151_ STFGD 156_ RVKQW 161_ ITINE 166_ ANVLS 171_ VMSYD 176_ LGMFP 181_ PGIPH 186_ FGTGG 191_ YQAAH 196_ NLIKA 201_ HARSW 206_ HSYDS 211_ LFRKK 216_ QKGMV 221_ SLSLF 226_ AVWLE 231_ PADPN 236_ SVSDQ 241_ EAAKR 246_ AITFH 251_ LDLFA 256_ KPIFI 261_ DGDYP 266_ EVVKS 271_ QIASM 276_ SQKQG 281_ YPSSR 286_ LPEFT 291_ EEEKK 296_ MIKGT 301_ ADFFA 306_ VQYYT 311_ TRLIK 316_ YQENK 321_ KGELG 326_ ILQDA 331_ EIEFF 336_ PDPSW 341_ KNVDW 346_ IYVVP 351_ WGVCK 356_ LLKYI 361_ KDTYN 366_ NPVIY 371_ ITENG 376_ FPQSD 381_ PAPLD 386_ DTQRW 391_ EYFRQ 396_ TFQEL 401_ FKAIQ 406_ LDKVN 411_ LQVYC 416_ AWSLL 421_ DNFEW 426_ NQGYS 431_ SRFGL 436_ FHVDF 441_ EDPAR 446_ PRVPY 451_ TSAKE 456_ YAKII 461_RNNGL

Protein annotations

Protein functions:

1: Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides (PubMed:11389701, PubMed:11784319, PubMed:17595169, PubMed:20728381, PubMed:26724485, PubMed:33361282). Has a significant glucosylceramidase activity in vitro (PubMed:17595169, PubMed:26724485). However, that activity is relatively low and its significance in vivo is not clear (PubMed:17595169, PubMed:20728381, PubMed:26724485). Hydrolyzes galactosylceramides/GalCers, glucosylsphingosines/GlcSphs and galactosylsphingosines/GalSphs (PubMed:17595169). However, the in vivo relevance of these activities is unclear (PubMed:17595169). It can also hydrolyze a broad variety of dietary glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens in vitro and could therefore play a role in the metabolism of xenobiotics (PubMed:11784319). Possesses transxylosylase activity in vitro using xylosylated ceramides/XylCers (such as beta-D-xylosyl-(1<->1')-N-acylsphing-4-enine) as xylosyl donors and cholesterol as acceptor (PubMed:33361282). Could also play a role in the catabolism of cytosolic sialyl free N-glycans (PubMed:26193330)