Gba1 (glucosylceramidase beta 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: Gba1 (glucosylceramidase beta 1) Chinchilla lanigera
Analyze
Symbol: Gba1
Name: glucosylceramidase beta 1
RGD ID: 8939279
Description: ENCODES a protein that exhibits beta-glucosidase activity (ortholog); glucosylceramidase activity (ortholog); glucosyltransferase activity (ortholog); INVOLVED IN antigen processing and presentation (ortholog); autophagosome organization (ortholog); autophagy (ortholog); PARTICIPATES IN Fabry disease pathway; Gaucher's disease pathway; Krabbe disease pathway; ASSOCIATED WITH alpha thalassemia-X-linked intellectual disability syndrome (ortholog); Autosomal Dominant Diffuse Lewy Body Disease (ortholog); Charcot-Marie-Tooth disease type 2 (ortholog); FOUND IN endoplasmic reticulum (ortholog); extracellular space (ortholog); Golgi apparatus (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: Gba; glucosidase, beta, acid; glucosylceramidase; glucosylceramidase beta
RGD Orthologs
Human
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: ChiLan1.0 - Chinchilla ChiLan1.0 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
antigen processing and presentation  (ISO)
autophagosome organization  (ISO)
autophagy  (ISO)
beta-glucoside catabolic process  (ISO)
brain morphogenesis  (ISO)
cell maturation  (ISO)
cellular response to starvation  (ISO)
cellular response to tumor necrosis factor  (ISO)
central nervous system development  (ISO)
ceramide biosynthetic process  (ISO)
cerebellar Purkinje cell layer formation  (ISO)
cholesterol metabolic process  (ISO)
determination of adult lifespan  (ISO)
establishment of skin barrier  (ISO)
glucosylceramide catabolic process  (ISO)
glucosylceramide metabolic process  (ISO)
hematopoietic stem cell proliferation  (ISO)
homeostasis of number of cells  (ISO)
lipid glycosylation  (ISO)
lipid storage  (ISO)
lymphocyte migration  (ISO)
lysosomal protein catabolic process  (ISO)
lysosome organization  (ISO)
microglia differentiation  (ISO)
microglial cell proliferation  (ISO)
mitochondrion organization  (ISO)
mitophagy  (ISO)
motor behavior  (ISO)
negative regulation of inflammatory response  (ISO)
negative regulation of interleukin-6 production  (ISO)
negative regulation of MAPK cascade  (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  (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  (ISO)
respiratory electron transport chain  (ISO)
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)
sphingosine biosynthetic process  (ISO)
T cell differentiation in thymus  (ISO)
termination of signal transduction  (ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Transitive Annotation Pipeline Automated assignment of GO, PW and RDO ISO annotations across species
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
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
(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
(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
(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
(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


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSCLAT00000007890   ⟹   ENSCLAP00000007770
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0 EnsemblNW_0049555451,682,097 - 1,689,376 (-)Ensembl
RefSeq Acc Id: XM_005411586   ⟹   XP_005411643
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049555451,682,097 - 1,689,373 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs XP_005411643 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSCLAP00000007770
  ENSCLAP00000007770.1
RefSeq Acc Id: XP_005411643   ⟸   XM_005411586
- UniProtKB: A0A8C2V123 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSCLAP00000007770   ⟸   ENSCLAT00000007890

Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCLAG00000005452 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCLAT00000007890 ENTREZGENE
  ENSCLAT00000007890.1 UniProtKB/TrEMBL
Gene3D-CATH Glycosidases UniProtKB/TrEMBL
InterPro GH30_C UniProtKB/TrEMBL
  Glyco_hydro_30 UniProtKB/TrEMBL
  Glyco_hydro_30_TIM-barrel UniProtKB/TrEMBL
  Glycoside_hydrolase_SF UniProtKB/TrEMBL
NCBI Gene Gba ENTREZGENE
PANTHER LYSOSOMAL ACID GLUCOSYLCERAMIDASE UniProtKB/TrEMBL
  PTHR11069 UniProtKB/TrEMBL
Pfam Glyco_hydro_30 UniProtKB/TrEMBL
  Glyco_hydro_30C UniProtKB/TrEMBL
PRINTS GLHYDRLASE30 UniProtKB/TrEMBL
Superfamily-SCOP Glycosyl hydrolase domain UniProtKB/TrEMBL
  SSF51445 UniProtKB/TrEMBL
UniProt A0A8C2V123 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-06-21 Gba1  glucosylceramidase beta 1  Gba  glucosylceramidase beta  Symbol and/or name change 5135510 APPROVED
2016-08-03 Gba  glucosylceramidase beta    glucosidase, beta, acid  Symbol and/or name change 5135510 APPROVED