Details for: GBA3

Gene ID: 57733

Symbol: GBA3

Ensembl ID: ENSG00000249948

Description: glucosylceramidase beta 3 (gene/pseudogene)

Associated with

Other Information

Genular Protein ID: 2097695975

Symbol: GBA3_HUMAN

Name: Cytosolic beta-glucosidase-like protein 1

UniProtKB Accession Codes:

Q9H227 Q32LY7 Q3MIH4 Q53GG8 Q6NSF4 Q8NHT8 Q9H3T4 Q9H4C6

Database IDs:

AGR 1 AlphaFoldDB 1 BRENDA 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CTD 1 ChEBI 28 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 3 EMBL 10 Ensembl 2 EvolutionaryTrace 1 GO 17 Gene3D 1 GeneCards 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 2 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 PANTHER 2 PDB 7 PDBsum 5 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 1 RefSeq 3 Rhea 15 SABIO-RK 1 SMR 1 SUPFAM 1 SignaLink 1 SwissLipids 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11043382

Title: Molecular cloning and expression of a novel klotho-related protein.

PubMed ID: 11043382

DOI: 10.1007/s001090000131

PubMed ID: 11389701

Title: Cloning and characterization of human liver cytosolic beta-glycosidase.

PubMed ID: 11389701

DOI: 10.1042/0264-6021:3560907

PubMed ID: 11784319

Title: Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides.

PubMed ID: 11784319

DOI: 10.1046/j.0014-2956.2001.02641.x

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12667141

Title: Substrate (aglycone) specificity of human cytosolic beta-glucosidase.

PubMed ID: 12667141

DOI: 10.1042/bj20021876

PubMed ID: 12594539

Title: Deglycosylation by small intestinal epithelial cell beta-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans.

PubMed ID: 12594539

DOI: 10.1007/s00394-003-0397-3

PubMed ID: 20728381

Title: The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation.

PubMed ID: 20728381

DOI: 10.1016/j.bcmd.2010.07.009

PubMed ID: 26193330

Title: Co-Expression of NEU2 and GBA3 Causes a Drastic Reduction in Cytosolic Sialyl Free N-glycans in Human MKN45 Stomach Cancer Cells-Evidence for the Physical Interaction of NEU2 and GBA3.

PubMed ID: 26193330

DOI: 10.3390/biom5031499

PubMed ID: 26724485

Title: Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular beta-glucosidases.

PubMed ID: 26724485

DOI: 10.1194/jlr.m064923

PubMed ID: 33361282

Title: Human glucocerebrosidase mediates formation of xylosyl-cholesterol by beta-xylosidase and transxylosidase reactions.

PubMed ID: 33361282

DOI: 10.1194/jlr.ra120001043

PubMed ID: 17595169

Title: Klotho-related protein is a novel cytosolic neutral beta-glycosylceramidase.

PubMed ID: 17595169

DOI: 10.1074/jbc.m700832200

PubMed ID: 17555766

Title: The crystal structure of human cytosolic beta-glucosidase unravels the substrate aglycone specificity of a family 1 glycoside hydrolase.

PubMed ID: 17555766

DOI: 10.1016/j.jmb.2007.05.034

PubMed ID: 18662675

Title: Crystal structure of the covalent intermediate of human cytosolic beta-glucosidase.

PubMed ID: 18662675

DOI: 10.1016/j.bbrc.2008.07.089

PubMed ID: 15322500

Title: Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease.

PubMed ID: 15322500

DOI: 10.1016/j.lab.2004.03.013

Sequence Information:

  • Length: 469
  • Mass: 53696
  • Checksum: 9036455485CE2E2F
  • Sequence:
    • MAFPAGFGWA AATAAYQVEG GWDADGKGPC VWDTFTHQGG ERVFKNQTGD VACGSYTLWE 
EDLKCIKQLG LTHYRFSLSW SRLLPDGTTG FINQKGIDYY NKIIDDLLKN GVTPIVTLYH 
FDLPQTLEDQ GGWLSEAIIE SFDKYAQFCF STFGDRVKQW ITINEANVLS VMSYDLGMFP 
PGIPHFGTGG YQAAHNLIKA HARSWHSYDS LFRKKQKGMV SLSLFAVWLE PADPNSVSDQ 
EAAKRAITFH LDLFAKPIFI DGDYPEVVKS QIASMSQKQG YPSSRLPEFT EEEKKMIKGT 
ADFFAVQYYT TRLIKYQENK KGELGILQDA EIEFFPDPSW KNVDWIYVVP WGVCKLLKYI 
KDTYNNPVIY ITENGFPQSD PAPLDDTQRW EYFRQTFQEL FKAIQLDKVN LQVYCAWSLL 
DNFEWNQGYS SRFGLFHVDF EDPARPRVPY TSAKEYAKII RNNGLEAHL

Genular Protein ID: 120147458

Symbol: B7Z536_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z536

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 GO 2 Gene3D 1 GenomeRNAi 1 InterPro 2 NCBI Taxonomy 1 PANTHER 2 PRINTS 1 PeptideAtlas 1 Pfam 1 RefSeq 1 RuleBase 1 SUPFAM 1

Sequence Information:

  • Length: 470
  • Mass: 54088
  • Checksum: DC3349B70D121597
  • Sequence:
    • MSLYTCLVEI TLPFHLEENV GGWDADGKGP CVWDTFTHQG GERVFKNQTG DVACGSYTLW 
EEDLKCIKQL GLTHYRFSLS WSRLLPDGTT GFINQKGIDY YNKIIDDLLK NGVTPIVTLY 
HFDLPQTLED QGGWLSEAII ESFDKYAQFC FSTFGDRVKQ WITINEANVL SVMSYDLGMF 
PPGIPHFGTG GYQAAHNLIK AHARSWHSYD SLFRKKQKGM VSLSLFAVWL EPADPNSVSD 
QEAAKRAITF HLDLFAKPIF IDGDYPEVVK SQIASMSQKQ GYPSSRLPEF TEEEKKMIKG 
TADFFAVQYY TTRLIKYQEN KKGELGILQD AEIEFFPDPS WKNVDWIYVV PWGVCKLLKY 
IKDTYNNPVI YITENGFPQS DPAPLDDTQR WEYFRQTFQE LFKAIQLDKV NLQVYCAWSL 
LDNFEWNQGY SSRFGLFHVD FEDPARPRVP YTSAKEYAKI IRNNGLEAHL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.