C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: glucosidase, beta, acid
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000177628 GBA 9606 - 1:155234452-155244699 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000327247 GBA-002 155234452-155244670 protein_coding
  ENST00000368373 GBA-001 155234452-155241234 protein_coding
  ENST00000427500 GBA-015 155234559-155241275 protein_coding
  ENST00000428024 GBA-016 155234868-155244699 protein_coding
  ENST00000460156 GBA-009 155237932-155238891 processed_transcript
  ENST00000464536 GBA-003 155234453-155235835 processed_transcript
  ENST00000467918 GBA-014 155239635-155244606 processed_transcript
  ENST00000470104 GBA-011 155239960-155241243 processed_transcript
  ENST00000473570 GBA-013 155238564-155244622 processed_transcript
  ENST00000478472 GBA-005 155234961-155236459 processed_transcript
  ENST00000484489 GBA-006 155235016-155241231 processed_transcript
  ENST00000491081 GBA-010 155236182-155238709 processed_transcript
  ENST00000493842 GBA-012 155238213-155244636 processed_transcript
  ENST00000497670 GBA-007 155236396-155239962 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000327247ENST00000427500ENST00000428024ENST00000464536ENST00000473570ENST00000478472ENST00000484489ENST00000491081ENST00000493842ENST00000497670
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000327247 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.747±0.25 N/A 0.235±0.00
ENST00000427500 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.910±0.00 N/A N/A
ENST00000428024 6.758±0.00 8.833±0.00 N/A 8.118±0.00 4.406±3.54 2.650±0.00 0.915±0.86 10.482±0.00 8.852±0.00 2.807±2.17 2.329±0.00 6.063±3.78 27.753±15.22 3.095±2.58
ENST00000464536 N/A N/A 1.225±0.00 1.743±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000473570 4.544±0.00 N/A 1.086±0.00 5.019±0.00 N/A N/A 1.084±0.00 N/A N/A N/A 2.623±0.00 3.621±1.20 6.582±0.00 0.922±0.00
ENST00000478472 N/A N/A N/A N/A N/A 0.653±0.00 N/A N/A N/A N/A N/A N/A N/A 1.258±0.00
ENST00000484489 4.985±0.00 8.693±0.00 N/A N/A 5.097±0.00 N/A 1.803±0.00 7.492±0.00 N/A N/A N/A 9.454±2.80 23.520±10.26 2.897±1.66
ENST00000491081 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.136±0.00 0.944±0.00 11.942±0.00 N/A
ENST00000493842 N/A N/A N/A N/A 0.882±0.00 1.436±0.00 0.204±0.00 N/A 0.748±0.00 N/A 0.937±0.00 1.187±0.00 N/A N/A
ENST00000497670 N/A N/A N/A N/A N/A N/A 0.191±0.00 N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0004348 IDA:IEA glucosylceramidase activity
GO:0005102 ISS receptor binding
GO:0005515 IPI protein binding
GO:0005765 IDA lysosomal membrane
GO:0005975 IEA carbohydrate metabolic process
GO:0006665 TAS:IEA sphingolipid metabolic process
GO:0006680 IMP glucosylceramide catabolic process
GO:0006687 TAS glycosphingolipid metabolic process
GO:0008219 IEA cell death
GO:0009268 IEA response to pH
GO:0023021 IMP termination of signal transduction
GO:0032715 IDA negative regulation of interleukin-6 production
GO:0033561 IEA regulation of water loss via skin
GO:0033574 IEA response to testosterone
GO:0035307 IMP positive regulation of protein dephosphorylation
GO:0043202 ISS lysosomal lumen
GO:0043407 IMP negative regulation of MAP kinase activity
GO:0043589 IEA skin morphogenesis
GO:0043627 IEA response to estrogen
GO:0044281 TAS small molecule metabolic process
GO:0046512 IMP sphingosine biosynthetic process
GO:0046513 IMP ceramide biosynthetic process
GO:0050728 IC negative regulation of inflammatory response
GO:0051384 IEA response to glucocorticoid
GO:0070062 IDA extracellular vesicular exosome
GO:0071356 IMP cellular response to tumor necrosis factor
GO:0097066 IEA response to thyroid hormone

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000076058 gba glucosidase, beta, acid protein_coding Danio_rerio
ENSMUSG00000028048 Gba glucosidase, beta, acid protein_coding Mus_musculus

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