Gba1 (glucosylceramidase beta 1) - Rat Genome Database

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Gene: Gba1 (glucosylceramidase beta 1) Rattus norvegicus
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Symbol: Gba1
Name: glucosylceramidase beta 1
RGD ID: 1589149
Description: Enables glucosylceramidase activity. Involved in several processes, including establishment of skin barrier; response to dexamethasone; and response to testosterone. Predicted to be located in several cellular components, including endoplasmic reticulum; lysosome; and trans-Golgi network. 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); PARTICIPATES IN Fabry disease pathway; Gaucher's disease pathway; Krabbe disease pathway; INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; 3,3',5-triiodo-L-thyronine; 4,4'-diaminodiphenylmethane.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: Gba; glucocerebrosidase; glucosidase, beta, acid; glucosylceramidase; glucosylceramidase beta; LOC684536; lysosomal acid glucosylceramidase; MGC188451; similar to Glucosylceramidase precursor (Beta-glucocerebrosidase) (Acid beta-glucosidase) (D-glucosyl-N-acylsphingosine glucohydrolase)
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82176,902,141 - 176,916,015 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl2176,907,154 - 176,916,985 (+)EnsemblGRCr8
mRatBN7.22174,609,437 - 174,615,457 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2174,609,403 - 174,618,263 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx2181,755,295 - 181,761,307 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02179,777,667 - 179,783,679 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02174,377,514 - 174,383,527 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.02188,511,781 - 188,522,602 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2188,516,582 - 188,522,601 (+)Ensemblrn6Rnor6.0
Rnor_5.02207,931,042 - 207,937,062 (+)NCBIRnor_5.0Rnor_5.0rn5
Celera2168,551,737 - 168,557,757 (+)NCBICelera
Cytogenetic Map2q34NCBI
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
antigen processing and presentation  (ISO)
autophagosome organization  (ISO)
autophagy  (IEA,ISO)
beta-glucoside catabolic process  (IDA)
brain morphogenesis  (ISO)
cell maturation  (ISO)
cellular response to starvation  (IEA,ISO)
cellular response to tumor necrosis factor  (IEA,ISO)
central nervous system development  (ISO)
ceramide biosynthetic process  (IEA,ISO)
cerebellar Purkinje cell layer formation  (ISO)
cholesterol metabolic process  (IEA,ISO)
determination of adult lifespan  (ISO)
establishment of skin barrier  (IMP)
glucosylceramide catabolic process  (IBA,IEA,ISO)
glucosylceramide metabolic process  (ISO)
glycolipid biosynthetic process  (IEA,ISO)
hematopoietic stem cell proliferation  (ISO)
homeostasis of number of cells  (ISO)
lipid metabolic process  (IEA)
lipid storage  (ISO)
lymphocyte migration  (ISO)
lysosomal protein catabolic process  (IEA,ISO)
lysosome organization  (IEA,ISO)
microglia differentiation  (ISO)
microglial cell proliferation  (ISO)
mitochondrion organization  (ISO)
mitophagy  (ISO)
motor behavior  (ISO)
negative regulation of inflammatory response  (IEA,ISO)
negative regulation of interleukin-6 production  (IEA,ISO)
negative regulation of MAPK cascade  (IEA,ISO)
negative regulation of neuron apoptotic process  (ISO)
negative regulation of protein metabolic process  (ISO)
negative regulation of protein-containing complex assembly  (ISO)
nervous system process  (ISO)
neuromuscular process  (ISO)
neuron apoptotic process  (ISO)
neuron projection development  (ISO)
positive regulation of neuronal action potential  (IEA,ISO)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (ISO)
positive regulation of proteolysis involved in protein catabolic process  (ISO)
positive regulation of type 2 mitophagy  (ISO)
proteasome-mediated ubiquitin-dependent protein catabolic process  (ISO)
pyramidal neuron differentiation  (ISO)
regulation of membrane potential  (ISO)
regulation of protein metabolic process  (ISO)
regulation of TOR signaling  (IEA,ISO)
respiratory electron transport chain  (ISO)
response to dexamethasone  (IDA)
response to estrogen  (IDA)
response to pH  (IDA)
response to testosterone  (IDA)
response to thyroid hormone  (IDA)
skin epidermis development  (IMP)
sphingolipid metabolic process  (IEA)
sphingosine biosynthetic process  (IEA,ISO)
T cell differentiation in thymus  (ISO)
termination of signal transduction  (IEA,ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
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. Characterization of the activation of rat liver beta-glucosidase by sialosylgangliotetraosylceramide. Basu A and Glew RH, J Biol Chem. 1985 Oct 25;260(24):13067-73.
3. 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.
4. 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.
5. Loss of beta-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells. Dermentzaki G, etal., PLoS One. 2013 Apr 8;8(4):e60674. doi: 10.1371/journal.pone.0060674. Print 2013.
6. 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.
7. Lysosomal beta-glucosidase of rat liver. Fabbro D, etal., Enzyme. 1984;31(2):122-7.
8. 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.
9. Functional consequences of a neutral pH in neonatal rat stratum corneum. Fluhr JW, etal., J Invest Dermatol. 2004 Jul;123(1):140-51.
10. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
11. 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.
12. 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.
13. Glucosylceramide metabolism is regulated during normal and hormonally stimulated epidermal barrier development in the rat. Hanley K, etal., J Lipid Res. 1997 Mar;38(3):576-84.
14. 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.
15. 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.
16. 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.
17. 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.
18. 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.
19. 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.
20. Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage. Mizukami H, etal., J Clin Invest. 2002 May;109(9):1215-21.
21. 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.
22. Glucocerebrosidase mutations in diffuse Lewy body disease. Nishioka K, etal., Parkinsonism Relat Disord. 2011 Jan;17(1):55-7.
23. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
24. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
25. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
26. GOA pipeline RGD automated data pipeline
27. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
29. Comprehensive gene review and curation RGD comprehensive gene curation
30. 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.
31. Developmental changes of glycosidase activities in rat renal cortex. Schulze E, etal., Biomed Biochim Acta. 1986;45(5):601-9.
Additional References at PubMed
PMID:9201993   PMID:12477932   PMID:15916907   PMID:16293621   PMID:17187079   PMID:17897319   PMID:17954912   PMID:18022370   PMID:18346921   PMID:19279008   PMID:19279011   PMID:19710420  
PMID:20148966   PMID:21700325   PMID:22665763   PMID:23376485   PMID:23533145   PMID:23707074   PMID:24022302   PMID:24211208   PMID:24388731   PMID:25202012   PMID:25456120   PMID:26392287  
PMID:26724485   PMID:27378698   PMID:27789271  


Genomics

Comparative Map Data
Gba1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82176,902,141 - 176,916,015 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl2176,907,154 - 176,916,985 (+)EnsemblGRCr8
mRatBN7.22174,609,437 - 174,615,457 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2174,609,403 - 174,618,263 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx2181,755,295 - 181,761,307 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02179,777,667 - 179,783,679 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02174,377,514 - 174,383,527 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.02188,511,781 - 188,522,602 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2188,516,582 - 188,522,601 (+)Ensemblrn6Rnor6.0
Rnor_5.02207,931,042 - 207,937,062 (+)NCBIRnor_5.0Rnor_5.0rn5
Celera2168,551,737 - 168,557,757 (+)NCBICelera
Cytogenetic Map2q34NCBI
GBA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381155,234,452 - 155,244,627 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1155,234,447 - 155,245,178 (-)Ensemblhg38GRCh38
GRCh371155,204,243 - 155,214,418 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361153,470,867 - 153,481,112 (-)NCBIBuild 36Build 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
(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 EnsemblGRCm39
GRCm38389,202,905 - 89,208,873 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl389,202,928 - 89,208,966 (+)Ensemblmm10GRCm38
MGSCv37389,006,850 - 89,012,603 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36389,288,867 - 89,294,608 (+)NCBIMGSCv36mm8
Celera389,236,609 - 89,242,363 (+)NCBICelera
Cytogenetic Map3F1NCBI
cM Map339.01NCBI
Gba1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555451,682,097 - 1,689,376 (-)Ensembl
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 (-)EnsemblpanPan2panpan1.1
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 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha741,808,580 - 41,813,161 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0742,186,904 - 42,191,488 (+)NCBIROS_Cfam_1.0ROS_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_1.0UU_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 (-)EnsemblSpeTri2.0 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 (+)EnsemblsusScr11Sscrofa11.1
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 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
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_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248852,315,371 - 2,321,327 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Gba1
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1364,468,266 - 64,474,451 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Gba1
112 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:224
Count of miRNA genes:160
Interacting mature miRNAs:186
Transcripts:ENSRNOT00000074727
Prediction methods:Microtar, 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 (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1358356Srcrt1Stress Responsive Cort QTL13.66blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)2163997722225110681Rat
1578648Bss11Bone structure and strength QTL 114.7femur morphology trait (VT:0000559)femoral neck cortical cross-sectional area (CMO:0001702)2169358774214358774Rat
1331734Bp204Blood pressure QTL 2043.61192arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)2170656145239614549Rat
631566Bp90Blood pressure QTL 900.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)2149957381221199885Rat
1298074Bp164Blood pressure QTL 1640.003arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)244537979205135428Rat
1354648Bp239Blood pressure QTL 2390.001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)267845370229470703Rat
1354649Kidm17Kidney mass QTL 172.9kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)283465462229820014Rat
10755499Bp389Blood pressure QTL 3892.61arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)220695736231474293Rat
1298076Bp166Blood pressure QTL 1660.0009arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)2138595962205135428Rat
1581576Pur7Proteinuria QTL 70.0001urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)280396178220931218Rat
61457Niddm8Non-insulin dependent diabetes mellitus QTL 84.10.01blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)2176840779178247591Rat
152025245Scl81Serum cholesterol level QTL 813.49blood cholesterol amount (VT:0000180)2124537199209621565Rat
1581578Cm49Cardiac mass QTL 494.90.01heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)2145807215220931416Rat
631198Cm22Cardiac mass QTL 224.30.0008heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)278269809208420281Rat
1554319Bmd2Bone mineral density QTL 213.40.0001lumbar vertebra area (VT:0010570)lumbar vertebra cross-sectional area (CMO:0001689)2122597372215234002Rat
12879836Kidm61Kidney mass QTL 610.001kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)2154723085199723085Rat
1581569Uae32Urinary albumin excretion QTL 320.0001urine protein amount (VT:0005160)urine albumin excretion rate (CMO:0000757)280396178220931218Rat
10043136Iddm54Insulin dependent diabetes mellitus QTL 543.40.0001blood glucose amount (VT:0000188)age at onset/diagnosis of type 1 diabetes mellitus (CMO:0001140)2145807215190807215Rat
12879837Am2Aortic mass QTL 20.001aorta mass (VT:0002845)aorta weight to aorta length to body weight ratio (CMO:0002722)2154723085199723085Rat
10043139Iddm55Insulin dependent diabetes mellitus QTL 553.10.0001blood glucose amount (VT:0000188)age at onset/diagnosis of type 1 diabetes mellitus (CMO:0001140)2150313808195313808Rat
12879838Cm86Cardiac mass QTL 860.002heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)2154723085199723085Rat
1302793Bw16Body weight QTL 1650.0001body mass (VT:0001259)body weight (CMO:0000012)2159440891205135267Rat
12879839Cm85Cardiac mass QTL 850.001heart mass (VT:0007028)heart wet weight to body weight ratio (CMO:0002408)2154723085199723085Rat
1549833Bp257Blood pressure QTL 2570.003arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)2170652929215652929Rat
1358900Bw48Body weight QTL 484.88body mass (VT:0001259)body weight (CMO:0000012)2159440891220931218Rat
4889834Pur24Proteinuria QTL 245.80.014urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)2171994826205135428Rat
12879845Cm89Cardiac mass QTL 890.008heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)2154723085178247591Rat
61473Bp19Blood pressure QTL 196.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)2175008837178247591Rat
1359030Bp277Blood pressure QTL 277arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)2143565208188565208Rat
12879846Cm90Cardiac mass QTL 900.011heart right ventricle mass (VT:0007033)heart right ventricle weight to body weight ratio (CMO:0000914)2154723085178247591Rat
12879847Am4Aortic mass QTL 40.001aorta mass (VT:0002845)aorta weight to aorta length to body weight ratio (CMO:0002722)2154723085178247591Rat
1331760Bp206Blood pressure QTL 2063.62454arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)24265106205135428Rat
12879840Bw179Body weight QTL 1790.005body mass (VT:0001259)body weight (CMO:0000012)2154723085199723085Rat
1581502Esta3Estrogen-induced thymic atrophy QTL 3thymus mass (VT:0004954)thymus wet weight (CMO:0000855)2139067258192287892Rat
1359032Hrtrt18Heart rate QTL 18heart pumping trait (VT:2000009)heart rate (CMO:0000002)2159440760195313808Rat
2301966Bp322Blood pressure QTL 3223.58arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)2144882354205135428Rat
1298080Bp163Blood pressure QTL 1630.02arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)267845182205135428Rat
1357991Ael2Aortic elastin QTL 24.20.000071aorta elastin amount (VT:0003905)aortic elastin2169227906214227906Rat
8662832Vetf7Vascular elastic tissue fragility QTL 73.5aorta elastin amount (VT:0003905)aorta wall extracellular elastin dry weight to aorta wall dry weight ratio (CMO:0002002)283400752223709938Rat
1298085Bp165Blood pressure QTL 1650.0006arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)244537979205135428Rat
1578671Bmd10Bone mineral density QTL 105.4femur mineral mass (VT:0010011)compact volumetric bone mineral density (CMO:0001730)2175931416220931416Rat
1359022Ppulsi1Prepulse inhibition QTL 13.63prepulse inhibition trait (VT:0003088)acoustic startle response measurement (CMO:0001519)2139067258184067258Rat
1641891Alcrsp17Alcohol response QTL 17response to alcohol trait (VT:0010489)duration of loss of righting reflex (CMO:0002289)2151869660251712708Rat
724534Uae6Urinary albumin excretion QTL 610urine albumin amount (VT:0002871)urine albumin level (CMO:0000130)280396034220931416Rat
61374Edpm2Estrogen-dependent pituitary mass QTL 24.420.86pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)278269809205135428Rat
8662843Vetf9Vascular elastic tissue fragility QTL 92.05thoracic aorta molecular composition trait (VT:0010568)aorta wall extracellular elastin dry weight to aorta wall extracellular collagen weight ratio (CMO:0002003)2159440760228950743Rat
2301415Cm67Cardiac mass QTL 670.003heart mass (VT:0007028)heart wet weight to body weight ratio (CMO:0002408)2154723085178247591Rat
1331794Bp202Blood pressure QTL 2023.66819arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)2143344967251712708Rat
71113Cari2Carrageenan-induced inflammation QTL 22.70.009hypodermis integrity trait (VT:0010550)inflammatory exudate volume (CMO:0001429)2143746578205135428Rat
1331805Cm29Cardiac mass QTL 293.50746heart mass (VT:0007028)heart wet weight (CMO:0000069)2143344967251712708Rat
11565180Kidm56Kidney mass QTL 560.003kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)2154723085178247591Rat
634308Sach6Saccharin preference QTL 64.9taste sensitivity trait (VT:0001986)saccharin intake volume to total fluid intake volume ratio (CMO:0001601)2114384617215381366Rat
1598805Memor8Memory QTL 83exploratory behavior trait (VT:0010471)average horizontal distance between subject and target during voluntary locomotion in an experimental apparatus (CMO:0002674)2150096616195096616Rat
11565181Bw176Body weight QTL 1760.002body mass (VT:0001259)body weight (CMO:0000012)2154723085178247591Rat
1358917Cm42Cardiac mass QTL 422.82heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)227148328206613235Rat
724568Uae13Urinary albumin excretion QTL 134.4urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)2145306936212705578Rat
1358913Cm41Cardiac mass QTL 412.73heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)227148328206613235Rat
1300165Rf9Renal function QTL 93.28kidney glomerulus integrity trait (VT:0010546)index of glomerular damage (CMO:0001135)2113746222205135428Rat
61401Niddm2Non-insulin dependent diabetes mellitus QTL 24.54blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)2147287892192287892Rat
631507Bp105Blood pressure QTL 1050.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)2114384617215381366Rat
1641925Alcrsp2Alcohol response QTL 2response to alcohol trait (VT:0010489)duration of loss of righting reflex (CMO:0002289)2151869660223841096Rat
1354609Niddm62Non-insulin dependent diabetes mellitus QTL 624.720.000006insulin secretion trait (VT:0003564)plasma insulin level (CMO:0000342)2117415288205135428Rat
1598833Bp295Blood pressure QTL 2953.5arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)2150096616195096616Rat
1354622Kidm16Kidney mass QTL 163kidney mass (VT:0002707)left kidney wet weight (CMO:0000083)283465462225110681Rat
631266Bp132Blood pressure QTL 1320.0005arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)247856345205135428Rat
631522Bp74Blood pressure QTL 740.05arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)2175008837220008837Rat
7488927Bp365Blood pressure QTL 3650.008arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)2165453811210453811Rat
7488925Bp364Blood pressure QTL 3640.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)2163253030208253030Rat
2293843Kiddil6Kidney dilation QTL 63.1kidney pelvis morphology trait (VT:0004194)hydronephrosis severity score (CMO:0001208)244537979184731399Rat
2306901Bp337Blood pressure QTL 3370.01arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)2166372086229820014Rat
1354605Rf48Renal function QTL 482.9blood creatinine amount (VT:0005328)plasma creatinine level (CMO:0000537)276328396209350714Rat
7488904Bp363Blood pressure QTL 3630.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)2175279960178247591Rat

Markers in Region
RH137121  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.22174,615,528 - 174,615,722 (+)MAPPERmRatBN7.2
Rnor_6.02188,522,674 - 188,522,867NCBIRnor6.0
Rnor_5.02207,937,134 - 207,937,327UniSTSRnor5.0
Celera2168,557,829 - 168,558,022UniSTS
RH 3.4 Map21155.7UniSTS
Cytogenetic Map2q34UniSTS
RH141384  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.22174,615,404 - 174,615,575 (+)MAPPERmRatBN7.2
Rnor_6.02188,522,550 - 188,522,720NCBIRnor6.0
Rnor_5.02207,937,010 - 207,937,180UniSTSRnor5.0
Celera2168,557,705 - 168,557,875UniSTS
RH 3.4 Map21156.4UniSTS
Cytogenetic Map2q34UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
16 12 67 165 91 90 59 92 59 6 356 192 11 144 81 92 31 17 17

Sequence


Ensembl Acc Id: ENSRNOT00000074727   ⟹   ENSRNOP00000063935
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl2176,907,172 - 176,916,985 (+)Ensembl
mRatBN7.2 Ensembl2174,609,403 - 174,618,263 (+)Ensembl
Rnor_6.0 Ensembl2188,516,582 - 188,522,601 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000154279   ⟹   ENSRNOP00000105582
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl2176,907,154 - 176,912,579 (+)Ensembl
RefSeq Acc Id: NM_001127639   ⟹   NP_001121111
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr82176,907,202 - 176,913,222 (+)NCBI
mRatBN7.22174,609,437 - 174,615,457 (+)NCBI
Rnor_6.02188,516,582 - 188,522,602 (+)NCBI
Rnor_5.02207,931,042 - 207,937,062 (+)NCBI
Celera2168,551,737 - 168,557,757 (+)RGD
Sequence:
RefSeq Acc Id: XM_063282540   ⟹   XP_063138610
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr82176,906,254 - 176,916,015 (+)NCBI
RefSeq Acc Id: XM_063282541   ⟹   XP_063138611
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr82176,902,141 - 176,916,015 (+)NCBI
RefSeq Acc Id: NP_001121111   ⟸   NM_001127639
- Peptide Label: precursor
- UniProtKB: B2RYC9 (UniProtKB/TrEMBL),   M0R3L8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000063935   ⟸   ENSRNOT00000074727
RefSeq Acc Id: XP_063138611   ⟸   XM_063282541
- Peptide Label: isoform X1
- UniProtKB: B2RYC9 (UniProtKB/TrEMBL),   M0R3L8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063138610   ⟸   XM_063282540
- Peptide Label: isoform X1
- UniProtKB: B2RYC9 (UniProtKB/TrEMBL),   M0R3L8 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSRNOP00000105582   ⟸   ENSRNOT00000154279
Protein Domains
Glycosyl hydrolase family 30 beta sandwich   Glycosyl hydrolase family 30 TIM-barrel

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-B2RYC9-F1-model_v2 AlphaFold B2RYC9 1-515 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13691461
Promoter ID:EPDNEW_R1986
Type:initiation region
Name:Gba_1
Description:glucosylceramidase beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.02188,516,552 - 188,516,612EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1589149 AgrOrtholog
BioCyc Gene G2FUF-52439 BioCyc
Ensembl Genes ENSRNOG00000049281 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000074727 ENTREZGENE
  ENSRNOT00000074727.3 UniProtKB/TrEMBL
  ENSRNOT00000154279 ENTREZGENE
  ENSRNOT00000154279.1 UniProtKB/TrEMBL
Gene3D-CATH Glycosidases UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7934870 IMAGE-MGC_LOAD
InterPro GH30_C UniProtKB/TrEMBL
  Glyco_hydro_30 UniProtKB/TrEMBL
  Glyco_hydro_30_TIM-barrel UniProtKB/TrEMBL
  Glyco_hydro_catalytic_core UniProtKB/TrEMBL
KEGG Report rno:684536 UniProtKB/TrEMBL
MGC_CLONE MGC:188451 IMAGE-MGC_LOAD
NCBI Gene 684536 ENTREZGENE
PANTHER Glyco_hydro_30 UniProtKB/TrEMBL
  LYSOSOMAL ACID GLUCOSYLCERAMIDASE UniProtKB/TrEMBL
Pfam Glyco_hydro_30 UniProtKB/TrEMBL
  Glyco_hydro_30C UniProtKB/TrEMBL
PhenoGen Gba1 PhenoGen
PRINTS GLHYDRLASE30 UniProtKB/TrEMBL
RatGTEx ENSRNOG00000049281 RatGTEx
Superfamily-SCOP Glyco_hydro_cat UniProtKB/TrEMBL
  Glycosyl hydrolase domain UniProtKB/TrEMBL
UniProt A0ABK0L6G4_RAT UniProtKB/TrEMBL
  B2RYC9 ENTREZGENE, UniProtKB/TrEMBL
  M0R3L8 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-06-19 Gba1  glucosylceramidase beta 1  Gba  glucosylceramidase beta  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2016-03-22 Gba  glucosylceramidase beta  Gba  glucosidase, beta, acid  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-09-23 Gba  glucosidase, beta, acid  LOC684536  similar to Glucosylceramidase precursor (Beta-glucocerebrosidase) (Acid beta-glucosidase) (D-glucosyl-N-acylsphingosine glucohydrolase)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2006-11-19 LOC684536  similar to Glucosylceramidase precursor (Beta-glucocerebrosidase) (Acid beta-glucosidase) (D-glucosyl-N-acylsphingosine glucohydrolase)      Symbol and Name status set to provisional 70820 PROVISIONAL