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Gene Info

Gene Information For:Hs. GBA, Glucosidase, beta, acid
Sequence ID:NM_001005741
NM_001005742
NM_001171811
NM_000157
NM_001171812
RefSeqGene ID:NG_009783
Entrez Gene ID:2629
Ensembl ID:ENSG00000177628

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, peripheral nervous system, placenta, pooled tissue, prostate, retina, skin, spleen, stem cell, stomach, synovium, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
DEMENTIA, LEWY BODYSNCA
SNCB
GAUCHER DISEASE, PERINATAL LETHAL 
GAUCHER DISEASE, TYPE I 
GAUCHER DISEASE, TYPE II 
GAUCHER DISEASE, TYPE III 
GAUCHER DISEASE, TYPE IIIC 
PARKINSON DISEASEADH1C
DBH
DRD4
FGF20
MAPT
NDUFV2
NR4A2
SNCAIP
TBP
UCHL1

Cytogenetic Location (from UniGene)

Cytogenetic Location:1q21Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:1: 155204460 - 155214632

 Exon Info From UCSC:
NM_001005741
NM_001005742
NM_001171811
NM_000157
NM_001171812

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
2899915Full LengthBC003356glucosidase, beta; acid (includes glucosylceramidase)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_001005742  NP_000148  NP_001005741  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_000157 NP_000148 P04062 EC 3.2.1.45 Glyco_hydro_30
NM_001005741 NP_001005741 P04062 EC 3.2.1.45 Glyco_hydro_30
NM_001005742 NP_001005742 P04062 EC 3.2.1.45 Glyco_hydro_30
NM_001171811 NP_001165282      
NM_001171812 NP_001165283      

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
M16328 AAA35873 P04062 EC 3.2.1.45
K02920 AAA35877 P04062 EC 3.2.1.45
M19285 AAA35880 P04062 EC 3.2.1.45
BC003356 AAH03356 P04062 EC 3.2.1.45
D13286 BAA02545 P04062 EC 3.2.1.45
AK291911 BAF84600 P04062 EC 3.2.1.45
AK312502 BAG35404 B2R6A7  
AK298900 BAH12898 B7Z5G2  
AK300186 BAH13232 B7Z6E6  
AK300829 BAH13357 B7Z6S1  
AK300876 BAH13365 B7Z6S9  
AK301374 BAH13467 B7Z731  
AK301879 BAH13574 B7Z7D8  
AK302000 BAH13605 B7Z7G9  

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens GBA NP_000148 M.musculus Gba 14466 Gene Info NP_001070879 87
C.elegans Y4C6B.6 177314   NP_500785 44
C.elegans F11E6.1 178535   NP_503119 43
C.elegans glucosylceramidase 173574   NP_001040750 41
A.gambiae AgaP_AGAP001649 1281524   XP_321447 39
C.elegans glucosylceramidase 183155   NP_494208 39
D.melanogaster CG31414 318721   NP_001097888 36
D.melanogaster CG31148 42796   NP_651172 36
N.crassa NCU04395 3873626   XP_957472 28

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)