Gba1 (glucosylceramidase beta 1) - Rat Genome Database

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Gene: Gba1 (glucosylceramidase beta 1) Mus musculus
Analyze
Symbol: Gba1 (Ensembl: Gba)
Name: glucosylceramidase beta 1 (Ensembl:glucosidase, beta, acid)
RGD ID: 1623310
MGI Page MGI
Description: Enables glucosyltransferase activity; hydrolase activity, hydrolyzing O-glycosyl compounds; and signaling receptor binding activity. Involved in several processes, including glucosylceramide catabolic process; lipid glycosylation; and regulation of TOR signaling. Acts upstream of or within with a positive effect on hematopoietic stem cell proliferation. Acts upstream of or within several processes, including macroautophagy; nervous system development; and regulation of protein metabolic process. Located in several cellular components, including endoplasmic reticulum; lysosome; and trans-Golgi network. Is expressed in several structures, including alimentary system; central nervous system; integumental system; reproductive system; and sensory organ. Used to study Gaucher's disease; Gaucher's disease type I; and Gaucher's disease type II. Human ortholog(s) of this gene implicated in Gaucher's disease (multiple); Lewy body dementia; Parkinson's disease (multiple); and Parkinsonism. Orthologous to human GBA1 (glucosylceramidase beta 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: acid beta glucosidase; acid beta-glucosidase; beta-glucocerebrosidase; betaG; betaGC; cholesterol glucosyltransferase; cholesteryl-beta-glucosidase; D-glucosyl-N-acylsphingosine glucohydrolase; Gba; GC; GCa; GCase; GLUC; glucocerebrosidase; glucosidase, beta, acid; glucosylceramidase; lysosomal acid GCase; lysosomal acid glucosylceramidase; lysosomal cholesterol glycosyltransferase; lysosomal galactosylceramidase; lysosomal glycosylceramidase; SGTase
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39389,110,235 - 89,119,944 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl389,110,235 - 89,116,273 (+)EnsemblGRCm39 Ensembl
GRCm38389,202,905 - 89,208,873 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl389,202,928 - 89,208,966 (+)EnsemblGRCm38mm10GRCm38
MGSCv37389,006,850 - 89,012,603 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36389,288,867 - 89,294,608 (+)NCBIMGSCv36mm8
Celera389,236,609 - 89,242,363 (+)NCBICelera
Cytogenetic Map3F1NCBI
cM Map339.01NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
antigen processing and presentation  (IMP)
autophagosome organization  (IMP)
autophagy  (IMP,ISO)
beta-glucoside catabolic process  (ISO)
brain morphogenesis  (IMP)
cell maturation  (IMP)
cellular response to starvation  (IMP)
cellular response to tumor necrosis factor  (ISO)
central nervous system development  (IMP)
ceramide biosynthetic process  (ISO)
cerebellar Purkinje cell layer formation  (IMP)
cholesterol metabolic process  (IDA,ISO)
determination of adult lifespan  (IMP)
establishment of skin barrier  (ISO)
glucosylceramide catabolic process  (IBA,IDA,IMP,ISO)
glucosylceramide metabolic process  (IMP)
hematopoietic stem cell proliferation  (IMP)
homeostasis of number of cells  (IMP)
lipid glycosylation  (IDA,ISO)
lipid metabolic process  (IEA)
lipid storage  (IMP)
lymphocyte migration  (IMP)
lysosome organization  (IMP,ISO)
microglia differentiation  (IMP)
microglial cell proliferation  (IMP)
mitochondrion organization  (IMP,ISO)
mitophagy  (IMP)
motor behavior  (IMP)
negative regulation of interleukin-6 production  (ISO)
negative regulation of neuron apoptotic process  (IMP)
negative regulation of protein metabolic process  (IMP)
negative regulation of protein-containing complex assembly  (IMP,ISO)
nervous system process  (IMP)
neuromuscular process  (IMP)
neuron apoptotic process  (IMP)
neuron projection development  (ISO)
positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization  (IMP)
positive regulation of neuronal action potential  (ISO)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IMP)
positive regulation of protein dephosphorylation  (ISO)
positive regulation of protein lipidation  (ISO)
positive regulation of protein-containing complex disassembly  (ISO)
positive regulation of proteolysis involved in protein catabolic process  (IMP)
proteasome-mediated ubiquitin-dependent protein catabolic process  (IMP)
pyramidal neuron differentiation  (IMP)
regulation of membrane potential  (IMP)
regulation of protein metabolic process  (IMP)
regulation of TOR signaling  (IMP,ISO)
respiratory electron transport chain  (IMP)
response to dexamethasone  (ISO)
response to estrogen  (ISO)
response to pH  (ISO)
response to testosterone  (ISO)
response to thyroid hormone  (ISO)
skin epidermis development  (ISO)
sphingolipid metabolic process  (IEA)
sphingosine biosynthetic process  (ISO)
steroid metabolic process  (IEA)
T cell differentiation in thymus  (IMP)
termination of signal transduction  (ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal bone marrow morphology  (IAGP)
abnormal brain morphology  (IAGP)
abnormal circulating chemokine level  (IAGP)
abnormal circulating cytokine level  (IAGP)
abnormal enzyme/coenzyme activity  (IAGP)
abnormal enzyme/coenzyme level  (IAGP)
abnormal epidermis stratum corneum morphology  (IAGP)
abnormal epidermis stratum granulosum morphology  (IAGP)
abnormal epidermis stratum spinosum morphology  (IAGP)
abnormal food intake  (IAGP)
abnormal gait  (IAGP)
abnormal immune system organ morphology  (IAGP)
abnormal inflammatory response  (IAGP)
abnormal Kupffer cell morphology  (IAGP)
abnormal lipid homeostasis  (IAGP)
abnormal liver morphology  (IAGP)
abnormal liver physiology  (IAGP)
abnormal lymph node morphology  (IAGP)
abnormal macrophage morphology  (IAGP)
abnormal microglial cell morphology  (IAGP)
abnormal neuron morphology  (IAGP)
abnormal osteoblast differentiation  (IAGP)
abnormal pulmonary circulation  (IAGP)
abnormal respiration  (IAGP)
abnormal response to transplant  (IAGP)
abnormal skeleton physiology  (IAGP)
abnormal skin condition  (IAGP)
abnormal skin turgor  (IAGP)
abnormal spleen morphology  (IAGP)
abnormal spleen physiology  (IAGP)
abnormal striatum morphology  (IAGP)
abnormal T cell differentiation  (IAGP)
abnormal thymus morphology  (IAGP)
abnormal trabecular bone morphology  (IAGP)
absent gastric milk in neonates  (IAGP)
akinesia  (IAGP)
alpha-synuclein inclusion body  (IAGP)
anemia  (IAGP)
aphagia  (IAGP)
astrocytosis  (IAGP)
cyanosis  (IAGP)
decreased birth body size  (IAGP)
decreased birth weight  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased bone mineral density  (IAGP)
decreased bone ossification  (IAGP)
decreased brain size  (IAGP)
decreased cerebral cortex pyramidal cell number  (IAGP)
decreased circulating cholesterol level  (IAGP)
decreased circulating HDL cholesterol level  (IAGP)
decreased circulating interleukin-1 alpha level  (IAGP)
decreased circulating interleukin-1 beta level  (IAGP)
decreased circulating interleukin-6 level  (IAGP)
decreased circulating tumor necrosis factor level  (IAGP)
decreased double-positive T cell number  (IAGP)
decreased erythrocyte cell number  (IAGP)
decreased hematocrit  (IAGP)
decreased hemoglobin content  (IAGP)
decreased leukocyte cell number  (IAGP)
decreased mean corpuscular volume  (IAGP)
decreased Purkinje cell number  (IAGP)
decreased skin turgor  (IAGP)
decreased survivor rate  (IAGP)
dehydration  (IAGP)
dry skin  (IAGP)
embryonic lethality, complete penetrance  (IAGP)
enlarged liver  (IAGP)
enlarged spleen  (IAGP)
extramedullary hematopoiesis  (IAGP)
hippocampal neuron degeneration  (IAGP)
hyperkeratosis  (IAGP)
increased circulating alanine transaminase level  (IAGP)
increased circulating amylase level  (IEA)
increased circulating aspartate transaminase level  (IAGP)
increased circulating interferon-gamma level  (IAGP)
increased circulating interleukin-10 level  (IAGP)
increased circulating interleukin-13 level  (IAGP)
increased circulating interleukin-2 level  (IAGP)
increased circulating interleukin-3 level  (IAGP)
increased circulating interleukin-9 level  (IAGP)
increased hepatocyte apoptosis  (IAGP)
increased IgG level  (IAGP)
increased liver weight  (IAGP)
increased mean platelet volume  (IEA)
increased spleen weight  (IAGP)
intermingled spleen red and white pulp  (IAGP)
kyphosis  (IAGP)
lipofuscinosis  (IAGP)
liver inflammation  (IAGP)
lung inflammation  (IAGP)
lymph node inflammation  (IAGP)
neonatal lethality, complete penetrance  (IAGP)
neuron degeneration  (IAGP)
no abnormal phenotype detected  (IEA)
pale liver  (IAGP)
pallor  (IAGP)
paralysis  (IAGP)
perinatal lethality  (IAGP)
perinatal lethality, complete penetrance  (IAGP)
postnatal lethality  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
premature death  (IAGP)
preweaning lethality, complete penetrance  (IEA)
prolonged QRS complex duration  (IEA)
reddish skin  (IAGP)
seizures  (IAGP)
skin inflammation  (IAGP)
spleen hyperplasia  (IAGP)
thick epidermis  (IAGP)
wrinkled skin  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Alterations of glucosylceramide-beta-glucosidase levels in the skin of patients with psoriasis vulgaris. Alessandrini F, etal., J Invest Dermatol. 2004 Dec;123(6):1030-6.
2. Genes associated with Parkinson's disease: regulation of autophagy and beyond. Beilina A and Cookson MR, J Neurochem. 2015 Jul 30. doi: 10.1111/jnc.13266.
3. Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease. Clark LN, etal., PLoS One. 2015 May 1;10(5):e0125204. doi: 10.1371/journal.pone.0125204. eCollection 2015.
4. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. Emre S, etal., Eur J Med Genet. 2008 Jul-Aug;51(4):315-21. doi: 10.1016/j.ejmg.2008.02.004. Epub 2008 Mar 4.
5. Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease. Farfel-Becker T, etal., Hum Mol Genet. 2011 Apr 1;20(7):1375-86. Epub 2011 Jan 20.
6. Glucocerebrosidase is present in alpha-synuclein inclusions in Lewy body disorders. Goker-Alpan O, etal., Acta Neuropathol. 2010 Nov;120(5):641-9. Epub 2010 Sep 14.
7. Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome. Hachem JP, etal., J Invest Dermatol. 2006 Jul;126(7):1609-21. Epub 2006 Apr 6.
8. Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China. Hu FY, etal., Eur J Neurol. 2010 Dec;17(12):1476-8. doi: 10.1111/j.1468-1331.2010.03097.x.
9. Impaired intracellular trafficking defines early Parkinson's disease. Hunn BH, etal., Trends Neurosci. 2015 Mar;38(3):178-88. doi: 10.1016/j.tins.2014.12.009. Epub 2015 Jan 29.
10. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Lesage S, etal., Hum Mol Genet. 2011 Jan 1;20(1):202-10. Epub 2010 Oct 14.
11. Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa. Lesage S, etal., Neurology. 2011 Jan 18;76(3):301-3.
12. Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease. Li Y, etal., Neurobiol Aging. 2014 Apr;35(4):935.e3-8. doi: 10.1016/j.neurobiolaging.2013.09.019. Epub 2013 Oct 12.
13. Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Mistry PK, etal., Blood Cells Mol Dis. 2011 Jan 15;46(1):66-72. Epub 2010 Nov 26.
14. Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage. Mizukami H, etal., J Clin Invest. 2002 May;109(9):1215-21.
15. Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa. Nishioka K, etal., Neurosci Lett. 2010 Jun 21;477(2):57-60. Epub 2009 Nov 27.
16. Glucocerebrosidase mutations in diffuse Lewy body disease. Nishioka K, etal., Parkinsonism Relat Disord. 2011 Jan;17(1):55-7.
17. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
18. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
19. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
20. Mouse MP Annotation Import Pipeline RGD automated import pipeline
21. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
23. Detection of 12 new mutations in Gaucher disease Brazilian patients. Rozenberg R, etal., Blood Cells Mol Dis. 2006 Nov-Dec;37(3):204-9. Epub 2006 Oct 23.
Additional References at PubMed
PMID:1317175   PMID:1347284   PMID:1531670   PMID:1594045   PMID:1617222   PMID:1633105   PMID:1705364   PMID:1794058   PMID:1916807   PMID:2574151   PMID:2740343   PMID:3863141  
PMID:6257302   PMID:7475311   PMID:7523515   PMID:7558020   PMID:7608209   PMID:7632321   PMID:7753840   PMID:7890684   PMID:7915557   PMID:7920630   PMID:7949740   PMID:8071612  
PMID:8163674   PMID:8268662   PMID:8398132   PMID:8486361   PMID:8597643   PMID:8604219   PMID:8824796   PMID:9457670   PMID:9482915   PMID:10214939   PMID:10349636   PMID:10441734  
PMID:10613847   PMID:10926300   PMID:10964718   PMID:11042159   PMID:11076861   PMID:11217851   PMID:11749048   PMID:12466851   PMID:12477932   PMID:12485431   PMID:12813057   PMID:14578207  
PMID:14681479   PMID:14706451   PMID:15086559   PMID:15489334   PMID:15782199   PMID:16061944   PMID:16141072   PMID:16141073   PMID:16170054   PMID:16602821   PMID:16861620   PMID:16953113  
PMID:16954197   PMID:17079175   PMID:17509920   PMID:17883393   PMID:17954912   PMID:18022370   PMID:18346921   PMID:19710420   PMID:20015957   PMID:20047948   PMID:20148966   PMID:20616152  
PMID:20673762   PMID:20962279   PMID:21223590   PMID:21257328   PMID:21677750   PMID:21700325   PMID:21730160   PMID:21873635   PMID:21954067   PMID:22167193   PMID:22327140   PMID:22566609  
PMID:22595426   PMID:22659419   PMID:22665763   PMID:22912851   PMID:23297226   PMID:23520473   PMID:23642305   PMID:23706823   PMID:23707074   PMID:23775597   PMID:23867462   PMID:23880767  
PMID:23994476   PMID:24046356   PMID:24064337   PMID:24070122   PMID:24079945   PMID:24211208   PMID:24293640   PMID:24388731   PMID:24441827   PMID:24599400   PMID:24639522   PMID:25256118  
PMID:25316793   PMID:25351739   PMID:25775479   PMID:26312487   PMID:26420838   PMID:26712461   PMID:27175482   PMID:27234572   PMID:27378698   PMID:27568557   PMID:27598339   PMID:27655403  
PMID:27789271   PMID:28186340   PMID:28223512   PMID:28225753   PMID:28520872   PMID:28969384   PMID:28981147   PMID:29173981   PMID:29310663   PMID:29547959   PMID:29703245   PMID:29900534  
PMID:30122074   PMID:30160596   PMID:30225354   PMID:30689867   PMID:30944381   PMID:30981829   PMID:31233883   PMID:31291241   PMID:31299418   PMID:31619543   PMID:31685979   PMID:31899072  
PMID:31929594   PMID:32034799   PMID:32279952   PMID:32325033   PMID:32391886   PMID:32595447   PMID:32833982   PMID:33727605   PMID:34062940   PMID:34106956   PMID:34202076   PMID:34326260  
PMID:34509608   PMID:34536552   PMID:34571934   PMID:34686711   PMID:34884512   PMID:35294256   PMID:35419585   PMID:35489416   PMID:35711931   PMID:35972072   PMID:36736320   PMID:37045813  
PMID:37569538   PMID:38454456  


Genomics

Comparative Map Data
Gba1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39389,110,235 - 89,119,944 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl389,110,235 - 89,116,273 (+)EnsemblGRCm39 Ensembl
GRCm38389,202,905 - 89,208,873 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl389,202,928 - 89,208,966 (+)EnsemblGRCm38mm10GRCm38
MGSCv37389,006,850 - 89,012,603 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36389,288,867 - 89,294,608 (+)NCBIMGSCv36mm8
Celera389,236,609 - 89,242,363 (+)NCBICelera
Cytogenetic Map3F1NCBI
cM Map339.01NCBI
GBA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381155,234,452 - 155,244,627 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1155,234,452 - 155,244,699 (-)EnsemblGRCh38hg38GRCh38
GRCh371155,204,243 - 155,214,418 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361153,470,867 - 153,481,112 (-)NCBINCBI36Build 36hg18NCBI36
Celera1128,277,514 - 128,287,929 (-)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1126,567,152 - 126,576,952 (-)NCBIHuRef
CHM1_11156,599,733 - 156,610,147 (-)NCBICHM1_1
T2T-CHM13v2.01154,373,009 - 154,383,185 (-)NCBIT2T-CHM13v2.0
Gba1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82176,902,141 - 176,916,015 (+)NCBIGRCr8
mRatBN7.22174,609,437 - 174,615,457 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2174,609,403 - 174,618,263 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2181,755,295 - 181,761,307 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02179,777,667 - 179,783,679 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02174,377,514 - 174,383,527 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02188,511,781 - 188,522,602 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2188,516,582 - 188,522,601 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02207,931,042 - 207,937,062 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2168,551,737 - 168,557,757 (+)NCBICelera
Cytogenetic Map2q34NCBI
Gba1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555451,682,097 - 1,689,376 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555451,682,097 - 1,689,373 (-)NCBIChiLan1.0ChiLan1.0
GBA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2194,599,104 - 94,609,710 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1194,330,442 - 94,341,057 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01130,579,300 - 130,589,560 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11134,185,385 - 134,194,851 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1134,185,385 - 134,194,851 (-)Ensemblpanpan1.1panPan2
GBA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1742,317,704 - 42,322,285 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl742,317,862 - 42,322,864 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha741,808,580 - 41,813,161 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0742,186,904 - 42,191,488 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl742,186,929 - 42,191,486 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1741,966,726 - 41,971,306 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0742,020,650 - 42,025,231 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0742,304,204 - 42,308,788 (+)NCBIUU_Cfam_GSD_1.0
Gba1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505825,685,030 - 25,690,379 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365804,715,408 - 4,720,798 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365804,715,869 - 4,720,752 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GBA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl494,584,134 - 94,609,745 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1494,583,905 - 94,606,689 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24103,366,844 - 103,389,270 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap4q21NCBI
GBA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1208,598,110 - 8,631,517 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl208,598,628 - 8,630,990 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660387,943,329 - 7,948,511 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gba1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248852,315,142 - 2,321,327 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248852,315,371 - 2,321,327 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Gba1
433 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:298
Count of miRNA genes:146
Interacting mature miRNAs:151
Transcripts:ENSMUST00000077367, ENSMUST00000167998
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
26884436Zlq3_mzygomatic length QTL 3, 10 week (mouse)33265060142405761Mouse
4142399Aec1_mautoimmune exocrinopathy 1 (mouse)Not determined7586174102690034Mouse
26884427Cvht4_mcranial vault height 4, 10 week (mouse)316054164109707316Mouse
13207570Tcq12_mtotal cholesterol QTL 12 (mouse)316504164130163649Mouse
26884422Cvht7_mcranial vault height 7, 16 week (mouse)328954149118893649Mouse
1302056Orgwq4_morgan weight QTL 4 (mouse)Not determined330067588147304689Mouse
1301705Sles3_msystemic lupus erythmatosus suppressor 3 (mouse)Not determined337174862143353183Mouse
13208566Bmiq5_mbody mass index QTL 5 (mouse)340954435115793649Mouse
26884380Skwq1_mskull length QTL 1, 5 week (mouse)343954435101607316Mouse
26884378Skwq6_mskull length QTL 6, 10 week (mouse)351907421102307316Mouse
26884382Bzwq1_mbi-zygomatic width QTL 1, 5 week (mouse)352207421137205761Mouse
11039519Ltpr3_mLeishmania tropica response 3 (mouse)356704102100464137Mouse
12880419V125Dq4_mvitamin D active form serum level QTL 4 (mouse)35890730792907307Mouse
4141294Bmd24_mbone mineral density 24 (mouse)Not determined36174006195740241Mouse
1301971Cia5_mcollagen induced arthritis QTL 5 (mouse)Not determined366046658100046795Mouse
25314313Syncl1_msynaptonemal complex length 1 (mouse)367907333128393649Mouse
11251721Ewc3_methanol withdrawal and consumption 3 (mouse)369568554103568554Mouse
1301791Char4_mP. chabaudi malaria resistance QTL 4 (mouse)Not determined369625509100655290Mouse
1301422Sle11_msystematic lupus erythematosus susceptibility 11 (mouse)Not determined370208904104209042Mouse
11049572Lmr11c_mleishmaniasis resistance 11c (mouse)372139967106140094Mouse
1300982Lmr11_mleishmaniasis resistance 11 (mouse)Not determined372139967106140094Mouse
1300595Tmevd2_mTheiler's murine encephalomyelitis virus induced demyelinating disease susceptibility 2 (mouse)Not determined375463302109463549Mouse
1301392Eae3_msusceptibility to experimental allergic encephalomyelitis 3 (mouse)Not determined379548730113548837Mouse
1301947Pcfm3_mperiosteal circumference and femur length 3 (mouse)Not determined381084652115084797Mouse
1301904Iba2_minduction of brown adipocytes 2 (mouse)Not determined382147043116147184Mouse
11041900Lmr11a_mleishmaniasis resistance 11a (mouse)383463991117464137Mouse
11039510Ltpr3d_mLeishmania tropica response 3d (mouse)383463991117464137Mouse
11039511Ltpr3c_mLeishmania tropica response 3c (mouse)383463991117464137Mouse
11039507Ltpr3g_mLeishmania tropica response 3g (mouse)383463991117464137Mouse
11039508Ltpr3f_mLeishmania tropica response 3f (mouse)383463991117464137Mouse
11039509Ltpr3e_mLeishmania tropica response 3e (mouse)383463991117464137Mouse
11039512Ltpr3b_mLeishmania tropica response 3b (mouse)383463991117464137Mouse
1301272Cfsw1_mcystic fibrosis survival to weaning 1 (mouse)Not determined383882912117883044Mouse
4142099Cq3_mcholesterol QTL 3 (mouse)Not determined384888918118889067Mouse
14746984Manh54_mmandible shape 54 (mouse)385289152119289152Mouse
10043981Cia5a_mcollagen induced arthritis QTL 5a (mouse)Not determined38717045489140094Mouse
1357583Sle18_msystematic lupus erythematosus susceptibility 18 (mouse)Not determined387208904125316236Mouse
12738440Twq3_mtestis weight QTL 3 (mouse)387228015121228015Mouse

Markers in Region
Gba  
Mouse AssemblyChrPosition (strand)SourceJBrowse
MGSCv37389,015,681 - 89,015,869UniSTSGRCm37
Celera389,245,441 - 89,245,629UniSTS
Cytogenetic Map3F1UniSTS
cM Map338.5UniSTS
cM Map341.7UniSTS
cM Map344.2UniSTS
cM Map344.05UniSTS
Gba  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38389,211,759 - 89,211,947UniSTSGRCm38
MGSCv37389,015,681 - 89,015,869UniSTSGRCm37
Celera389,245,441 - 89,245,629UniSTS
Cytogenetic Map3F1UniSTS
cM Map338.5UniSTS
cM Map341.7UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001077411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001409958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001409959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001409960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001409961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001409962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_008094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_122037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC161600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK082767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK152745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK166198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK201806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK205177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY115108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BB632015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M89949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSMUST00000077367   ⟹   ENSMUSP00000076589
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl389,110,235 - 89,115,986 (+)Ensembl
GRCm38.p6 Ensembl389,202,928 - 89,208,679 (+)Ensembl
RefSeq Acc Id: ENSMUST00000167998   ⟹   ENSMUSP00000130660
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl389,110,247 - 89,115,988 (+)Ensembl
GRCm38.p6 Ensembl389,202,940 - 89,208,681 (+)Ensembl
RefSeq Acc Id: ENSMUST00000196887
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl389,115,524 - 89,116,273 (+)Ensembl
GRCm38.p6 Ensembl389,208,217 - 89,208,966 (+)Ensembl
RefSeq Acc Id: ENSMUST00000197738   ⟹   ENSMUSP00000142401
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl389,110,243 - 89,115,988 (+)Ensembl
GRCm38.p6 Ensembl389,202,936 - 89,208,681 (+)Ensembl
RefSeq Acc Id: ENSMUST00000200124
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl389,112,792 - 89,113,695 (+)Ensembl
GRCm38.p6 Ensembl389,205,485 - 89,206,388 (+)Ensembl
RefSeq Acc Id: NM_001077411   ⟹   NP_001070879
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39389,110,235 - 89,119,944 (+)NCBI
GRCm38389,202,928 - 89,208,873 (+)NCBI
MGSCv37389,006,850 - 89,012,603 (+)RGD
Celera389,236,606 - 89,242,648 (+)NCBI
cM Map3 ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001409958   ⟹   NP_001396887
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39389,110,235 - 89,119,944 (+)NCBI
RefSeq Acc Id: NM_001409959   ⟹   NP_001396888
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39389,110,235 - 89,119,944 (+)NCBI
RefSeq Acc Id: NM_001409960   ⟹   NP_001396889
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39389,110,235 - 89,119,944 (+)NCBI
RefSeq Acc Id: NM_001409961   ⟹   NP_001396890
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39389,110,235 - 89,119,944 (+)NCBI
RefSeq Acc Id: NM_001409962   ⟹   NP_001396891
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39389,110,235 - 89,119,944 (+)NCBI
RefSeq Acc Id: NM_008094   ⟹   NP_032120
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39389,110,235 - 89,119,944 (+)NCBI
GRCm38389,202,928 - 89,208,873 (+)NCBI
MGSCv37389,006,850 - 89,012,603 (+)RGD
Celera389,236,606 - 89,242,648 (+)NCBI
cM Map3 ENTREZGENE
Sequence:
RefSeq Acc Id: NR_122037
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39389,110,235 - 89,119,944 (+)NCBI
GRCm38389,202,928 - 89,208,873 (+)NCBI
Celera389,236,606 - 89,242,648 (+)NCBI
Sequence:
RefSeq Acc Id: NR_176922
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39389,110,235 - 89,119,944 (+)NCBI
RefSeq Acc Id: NR_176923
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39389,110,235 - 89,119,944 (+)NCBI
RefSeq Acc Id: NR_176924
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39389,110,235 - 89,119,944 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001070879   ⟸   NM_001077411
- Peptide Label: isoform 1 precursor
- UniProtKB: Q78NR7 (UniProtKB/Swiss-Prot),   P17439 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_032120   ⟸   NM_008094
- Peptide Label: isoform 1 precursor
- UniProtKB: Q78NR7 (UniProtKB/Swiss-Prot),   P17439 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000142401   ⟸   ENSMUST00000197738
RefSeq Acc Id: ENSMUSP00000130660   ⟸   ENSMUST00000167998
RefSeq Acc Id: ENSMUSP00000076589   ⟸   ENSMUST00000077367
RefSeq Acc Id: NP_001396889   ⟸   NM_001409960
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: NP_001396888   ⟸   NM_001409959
- Peptide Label: isoform 1 precursor
- UniProtKB: P17439 (UniProtKB/Swiss-Prot),   Q78NR7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001396890   ⟸   NM_001409961
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: NP_001396887   ⟸   NM_001409958
- Peptide Label: isoform 1 precursor
- UniProtKB: P17439 (UniProtKB/Swiss-Prot),   Q78NR7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001396891   ⟸   NM_001409962
- Peptide Label: isoform 2 precursor
Protein Domains
Glycosyl hydrolase family 30 TIM-barrel

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P17439-F1-model_v2 AlphaFold P17439 1-515 view protein structure

Promoters
RGD ID:6849135
Promoter ID:MM_XEF:4619
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:NM_001005741,   NM_001005742,   NM_001046421,   NM_001134016,   NM_001171811,   NR_002188
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36389,000,211 - 89,000,711 (+)MPROMDB
RGD ID:6833810
Promoter ID:MM_KWN:34921
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day3,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:ENSMUST00000077367,   UC008PYB.1,   UC008PYD.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36389,006,796 - 89,007,332 (+)MPROMDB
RGD ID:6849134
Promoter ID:MM_XEF:4620
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Kidney
Transcripts:NM_000157,   NM_001005730,   NM_001008997,   NM_001127639,   NM_001135312,   NM_001171812
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36389,007,826 - 89,008,326 (+)MPROMDB
RGD ID:6881212
Promoter ID:EPDNEW_M4057
Type:initiation region
Name:Gba_1
Description:Mus musculus glucosidase, beta, acid , transcript variant 2,mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38389,202,928 - 89,202,988EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:95665 AgrOrtholog
Ensembl Genes ENSMUSG00000028048 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000077367 ENTREZGENE
  ENSMUST00000077367.11 UniProtKB/Swiss-Prot
  ENSMUST00000167998 ENTREZGENE
  ENSMUST00000167998.2 UniProtKB/Swiss-Prot
  ENSMUST00000197738.5 UniProtKB/TrEMBL
Gene3D-CATH Glycosidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro GH30_C UniProtKB/Swiss-Prot
  Glyco_hydro_30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_30_TIM-barrel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:14466 UniProtKB/Swiss-Prot
MGD MGI:95665 ENTREZGENE
NCBI Gene 14466 ENTREZGENE
PANTHER LYSOSOMAL ACID GLUCOSYLCERAMIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11069 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_hydro_30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_30C UniProtKB/Swiss-Prot
PhenoGen Gba1 PhenoGen
PRINTS GLHYDRLASE30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Glycosyl hydrolase domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JDK2_MOUSE UniProtKB/TrEMBL
  GLCM_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q78NR7 ENTREZGENE
UniProt Secondary Q78NR7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-06-05 Gba1  glucosylceramidase beta 1  Gba  glucosidase, beta, acid  Symbol and/or name updated 27372883 PROVISIONAL