Details for: GBA3

Gene ID: 57733

Symbol: GBA3

Ensembl ID: ENSG00000249948

Description: glucosylceramidase beta 3 (gene/pseudogene)

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 6.74
    Marker Score: 7125
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 6.74
    Marker Score: 6679
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 1.65
    Marker Score: 2687
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.62
    Marker Score: 3069
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.35
    Marker Score: 2745
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.2
    Marker Score: 4271
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.07
    Marker Score: 732
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.97
    Marker Score: 582.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.89
    Marker Score: 13868
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.71
    Marker Score: 4281
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.61
    Marker Score: 1988
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.5
    Marker Score: 240
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.46
    Marker Score: 456
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.44
    Marker Score: 180
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.42
    Marker Score: 243
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.36
    Marker Score: 126
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.36
    Marker Score: 374.5
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.35
    Marker Score: 154
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.33
    Marker Score: 83
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.33
    Marker Score: 146
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.32
    Marker Score: 100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.3
    Marker Score: 668
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.29
    Marker Score: 1219
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.27
    Marker Score: 85
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.25
    Marker Score: 1209
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.24
    Marker Score: 308
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.23
    Marker Score: 259
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.2
    Marker Score: 59
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.18
    Marker Score: 114
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.17
    Marker Score: 69
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.16
    Marker Score: 47
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.16
    Marker Score: 191
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.14
    Marker Score: 183
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.13
    Marker Score: 50
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.13
    Marker Score: 41
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.13
    Marker Score: 59
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.12
    Marker Score: 114
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.12
    Marker Score: 125
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.11
    Marker Score: 66
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.1
    Marker Score: 42
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.09
    Marker Score: 34
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.09
    Marker Score: 53.5
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.09
    Marker Score: 380
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.09
    Marker Score: 25
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.09
    Marker Score: 30
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.09
    Marker Score: 29
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.08
    Marker Score: 81
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.08
    Marker Score: 19
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.08
    Marker Score: 23
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.08
    Marker Score: 17
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.07
    Marker Score: 49
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.07
    Marker Score: 44
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.07
    Marker Score: 66
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.07
    Marker Score: 25
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.06
    Marker Score: 163
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.06
    Marker Score: 17
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.06
    Marker Score: 26
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.06
    Marker Score: 23
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.06
    Marker Score: 19
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.06
    Marker Score: 50
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.06
    Marker Score: 32
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.06
    Marker Score: 21
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.05
    Marker Score: 147
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.05
    Marker Score: 25
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.05
    Marker Score: 26
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.05
    Marker Score: 85
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.05
    Marker Score: 211
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.05
    Marker Score: 45
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.05
    Marker Score: 23
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.05
    Marker Score: 56
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.05
    Marker Score: 25
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.05
    Marker Score: 22
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.05
    Marker Score: 24
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.04
    Marker Score: 13
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.04
    Marker Score: 25
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.04
    Marker Score: 177
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.04
    Marker Score: 19
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.04
    Marker Score: 24
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.04
    Marker Score: 28
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.04
    Marker Score: 26
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.04
    Marker Score: 23
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.04
    Marker Score: 13
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.04
    Marker Score: 15
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.04
    Marker Score: 25
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.04
    Marker Score: 24
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.04
    Marker Score: 13
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.04
    Marker Score: 40
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.03
    Marker Score: 294
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.03
    Marker Score: 18
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.03
    Marker Score: 77
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 0.03
    Marker Score: 24
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.03
    Marker Score: 16
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.03
    Marker Score: 23
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.03
    Marker Score: 25
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.03
    Marker Score: 90
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.03
    Marker Score: 35
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.03
    Marker Score: 38
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.03
    Marker Score: 21
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.03
    Marker Score: 31.5

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Other Information

**Key Characteristics:** 1. **Pseudogene:** GBA3 lacks coding potential, suggesting its primary function is to regulate gene expression through non-coding RNA elements or influence protein function indirectly. 2. **Significantly expressed cells:** GBA3 is expressed in various cell types, including kidney epithelial cells, intestinal epithelial cells, cardiac endothelial cells, and hepatocytes, indicating its potential role in maintaining tissue homeostasis. 3. **Glycosphingolipid metabolism:** GBA3 is involved in multiple glycosphingolipid metabolic pathways, including galactosylceramide catabolic process, glucosylceramide catabolic process, and glycosphosphingolipid catabolic process. 4. **Regulation of exo-alpha-sialidase activity:** GBA3 may play a role in regulating exo-alpha-sialidase activity, a key enzyme in the sialic acid metabolism pathway. **Pathways and Functions:** 1. **Beta-galactosidase activity:** GBA3 is involved in beta-galactosidase activity, a crucial step in the breakdown of galactosylceramides. 2. **Beta-glucosidase activity:** GBA3 is also involved in beta-glucosidase activity, which is essential for the degradation of glucosylceramides. 3. **Glycoside catabolic process:** GBA3 is involved in the catabolic process of glycosides, including galactosylceramides and glucosylceramides. 4. **Catalytic complex:** GBA3 may form a catalytic complex with other enzymes to facilitate glycosphingolipid metabolism. 5. **Protein binding and stabilization:** GBA3 may regulate protein binding and stabilization, influencing the activity of other enzymes and proteins. **Clinical Significance:** 1. **Neurodegenerative diseases:** GBA3 may play a role in neurodegenerative diseases, such as Parkinson's disease and multiple system atrophy, which are characterized by impaired glycosphingolipid metabolism. 2. **Cancer:** GBA3 expression in cancer cells may contribute to tumor progression and metastasis by regulating glycosphingolipid metabolism. 3. **Cardiovascular disease:** GBA3 expression in cardiac cells may influence cardiovascular disease by regulating glycosphingolipid metabolism and protein function. 4. **Innate immunity:** GBA3 expression in innate lymphoid cells may contribute to the regulation of innate immunity by influencing glycosphingolipid metabolism and protein function. In conclusion, the pseudogene GBA3 has been identified as a significant player in glycosphingolipid metabolism, influencing multiple pathways and functions. Further research is needed to elucidate the clinical significance of GBA3 and its potential role in various diseases.

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. For the full schema, download it here.