Gbe1 (1,4-alpha-glucan branching enzyme 1) - Rat Genome Database

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Gene: Gbe1 (1,4-alpha-glucan branching enzyme 1) Rattus norvegicus
Analyze
Symbol: Gbe1
Name: 1,4-alpha-glucan branching enzyme 1
RGD ID: 1309968
Description: Enables 1,4-alpha-glucan branching enzyme activity and carbohydrate binding activity. Involved in glycogen biosynthetic process and negative regulation of neuron apoptotic process. Predicted to be active in cytosol. Human ortholog(s) of this gene implicated in glycogen storage disease IV and pulmonary tuberculosis. Orthologous to human GBE1 (1,4-alpha-glucan branching enzyme 1); PARTICIPATES IN glycogen biosynthetic pathway; congenital sucrase-isomaltase deficiency pathway; glycogen storage disease type III pathway; INTERACTS WITH 17beta-estradiol; 2,4-dinitrotoluene; 3-chloropropane-1,2-diol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 1,4-alpha-glucan-branching enzyme; glucan (1,4-alpha-), branching enzyme 1; LOC288333
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81122,181,194 - 22,446,640 (+)NCBIGRCr8
mRatBN7.2118,734,806 - 9,000,226 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl118,734,820 - 9,000,210 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1117,314,505 - 17,568,213 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01110,042,282 - 10,304,941 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0119,221,519 - 9,475,243 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0117,210,169 - 7,485,895 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl117,210,209 - 7,485,890 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01110,903,698 - 11,174,747 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4118,720,408 - 8,975,471 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1118,720,407 - 8,975,223 (+)NCBI
Celera118,665,430 - 8,924,865 (+)NCBICelera
Cytogenetic Map11p11NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
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Original Reference(s)
Gbe1Ratglycogen storage disease IV  ISOGBE1 (Homo sapiens)1601279DNA:deletion more ...RGD 
Gbe1RatGSD IV, Neuromuscular Form, Fatal Perinatal  ISOGBE1 (Homo sapiens)18337290DNA:missense mutations more ...RGD 
Gbe1Ratpulmonary tuberculosis  ISOGBE1 (Homo sapiens)18337291DNA:SNP:intron:rs2307058 (human)RGD 
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Original Reference(s)
Gbe1Ratautosomal recessive cutis laxa type IB  ISOGBE1 (Homo sapiens)8554872ClinVar Annotator: match by term: Cutis laxa more ...ClinVarPMID:25741868
Gbe1RatFamilial Cirrhosis with Deposition of Abnormal Glycogen  ISOGBE1 (Homo sapiens)8554872ClinVar Annotator: match by term: Cirrhosis more ...ClinVarPMID:10384399 more ...
Gbe1Ratfetal akinesia deformation sequence syndrome 1  ISOGBE1 (Homo sapiens)8554872ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1ClinVarPMID:25741868 more ...
Gbe1Ratgenetic disease  ISOGBE1 (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:10762170 more ...
Gbe1Ratglycogen storage disease  ISOGBE1 (Homo sapiens)8554872ClinVar Annotator: match by term: Glycogen storage diseaseClinVarPMID:15452297 more ...
Gbe1Ratglycogen storage disease IV  ISOGBE1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10384399 more ...
Gbe1RatGSD IV, Classic Hepatic  ISOGBE1 (Homo sapiens)8554872ClinVar Annotator: match by term: GSD IV and CLASSIC HEPATICClinVarPMID:10384399 more ...
Gbe1RatGSD IV, combined hepatic and myopathic  ISOGBE1 (Homo sapiens)8554872ClinVar Annotator: match by term: Glycogen storage disease IV and combined hepatic and myopathicClinVarPMID:10545044 more ...
Gbe1RatGSD IV, Neuromuscular Form, Childhood  ISOGBE1 (Homo sapiens)8554872ClinVar Annotator: match by term: GSD IV more ...ClinVarPMID:15452297 more ...
Gbe1RatGSD IV, Neuromuscular Form, Congenital  ISOGBE1 (Homo sapiens)8554872ClinVar Annotator: match by term: GSD IV more ...ClinVarPMID:15019703 more ...
Gbe1RatGSD IV, Neuromuscular Form, Fatal Perinatal  ISOGBE1 (Homo sapiens)8554872ClinVar Annotator: match by term: Gsd IV more ...ClinVarPMID:10384399 more ...
Gbe1Ratosteogenesis imperfecta type 15  ISOGBE1 (Homo sapiens)8554872ClinVar Annotator: match by term: Osteogenesis imperfecta type 15ClinVarPMID:25741868
Gbe1RatPolyglucosan Body Disease, Adult Form  ISOGBE1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10545044 more ...
Gbe1Ratpolyneuropathy  ISOGBE1 (Homo sapiens)8554872ClinVar Annotator: match by term: PolyneuropathyClinVarPMID:25741868
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Gbe1Ratglycogen storage disease IV  ISOGBE1 (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTD 
Gbe1RatPolyglucosan Body Disease, Adult Form  ISOGBE1 (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTD 
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Original Reference(s)
Gbe1Ratglycogen storage disease IV  ISSGbe1 (Mus musculus)13592920OMIM:232500MouseDO 
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Original Reference(s)
Gbe1Ratglycogen storage disease IV  ISOGBE1 (Homo sapiens)7240710 OMIM 
Gbe1RatPolyglucosan Body Disease, Adult Form  ISOGBE1 (Homo sapiens)7240710 OMIM 

1 to 20 of 190 rows

  
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Original Reference(s)
Gbe1Rat(-)-epigallocatechin 3-gallate multiple interactionsISOGBE1 (Homo sapiens)6480464[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of GBE1 mRNACTDPMID:22079256
Gbe1Rat(1->4)-beta-D-glucan multiple interactionsISOGbe1 (Mus musculus)6480464[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of GBE1 mRNACTDPMID:36331819
Gbe1Rat1,2-dichloroethane decreases expressionISOGbe1 (Mus musculus)6480464ethylene dichloride results in decreased expression of GBE1 mRNACTDPMID:28960355
Gbe1Rat1,2-dimethylhydrazine decreases expressionISOGbe1 (Mus musculus)64804641 and 2-Dimethylhydrazine results in decreased expression of GBE1 mRNACTDPMID:22206623
Gbe1Rat1,2-dimethylhydrazine multiple interactionsISOGbe1 (Mus musculus)6480464[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of GBE1 mRNACTDPMID:22206623
Gbe1Rat17beta-estradiol decreases expressionISOGBE1 (Homo sapiens)6480464Estradiol results in decreased expression of GBE1 mRNACTDPMID:21632981
Gbe1Rat17beta-estradiol affects expressionEXP 6480464Estradiol affects the expression of GBE1 mRNACTDPMID:32145629
Gbe1Rat17beta-estradiol multiple interactionsISOGBE1 (Homo sapiens)6480464[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in increased expression of GBE1 mRNACTDPMID:20823114
Gbe1Rat17beta-estradiol decreases expressionISOGbe1 (Mus musculus)6480464Estradiol results in decreased expression of GBE1 mRNACTDPMID:19484750 and PMID:39298647
Gbe1Rat1H-pyrazole increases expressionISOGbe1 (Mus musculus)6480464pyrazole results in increased expression of GBE1 mRNACTDPMID:17945193
Gbe1Rat2,2',4,4'-Tetrabromodiphenyl ether decreases expressionISOGBE1 (Homo sapiens)64804642 more ...CTDPMID:31675489
Gbe1Rat2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISOGbe1 (Mus musculus)6480464[Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of GBE1 mRNACTDPMID:16214954
Gbe1Rat2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOGbe1 (Mus musculus)6480464Tetrachlorodibenzodioxin results in decreased expression of GBE1 mRNACTDPMID:19770486
Gbe1Rat2,3,7,8-tetrachlorodibenzodioxine increases expressionISOGbe1 (Mus musculus)6480464Tetrachlorodibenzodioxin results in increased expression of GBE1 mRNACTDPMID:19465110
Gbe1Rat2,4-dinitrotoluene affects expressionEXP 64804642 and 4-dinitrotoluene affects the expression of GBE1 mRNACTDPMID:21346803
Gbe1Rat2,6-dimethoxyphenol multiple interactionsISOGBE1 (Homo sapiens)6480464[Sodium Chloride co-treated with pyrogallol 1 more ...CTDPMID:38598786
Gbe1Rat2-hydroxypropanoic acid decreases expressionISOGBE1 (Homo sapiens)6480464Lactic Acid results in decreased expression of GBE1 mRNACTDPMID:30851411
Gbe1Rat3-chloropropane-1,2-diol increases expressionEXP 6480464alpha-Chlorohydrin results in increased expression of GBE1 proteinCTDPMID:34915118
Gbe1Rat4,4'-diaminodiphenylmethane increases expressionISOGbe1 (Mus musculus)64804644 and 4'-diaminodiphenylmethane results in increased expression of GBE1 mRNACTDPMID:18648102
Gbe1Rat4,4'-sulfonyldiphenol increases expressionISOGbe1 (Mus musculus)6480464bisphenol S results in increased expression of GBE1 mRNACTDPMID:39298647

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Biological Process
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Original Reference(s)
Gbe1Ratcarbohydrate metabolic process involved_inIEAInterPro:IPR004193 more ...1600115GO_REF:0000002InterProGO_REF:0000002
Gbe1Ratglucan metabolic process involved_inIEAARBA:ARBA000270071600115GO_REF:0000117UniProtGO_REF:0000117
Gbe1Ratglycogen biosynthetic process  IDA 1642743 RGD 
Gbe1Ratglycogen biosynthetic process involved_inISOGbe1 (Mus musculus)1624291MGI:4868492 more ...RGDPMID:21075835 more ...
Gbe1Ratglycogen biosynthetic process involved_inIEAInterPro:IPR0374391600115GO_REF:0000002InterProGO_REF:0000002
Gbe1Ratglycogen biosynthetic process involved_inIEAUniProtKB:Q9D6Y9 and ensembl:ENSMUSP000001326031600115GO_REF:0000107EnsemblGO_REF:0000107
Gbe1Ratglycogen biosynthetic process involved_inIBACGD:CAL0000188820 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Gbe1Ratglycogen biosynthetic process involved_inIEAUniProtKB:Q04446 and ensembl:ENSP000004108331600115GO_REF:0000107EnsemblGO_REF:0000107
Gbe1Ratglycogen biosynthetic process involved_inISOGBE1 (Homo sapiens)1624291 PMID:26199317RGDPMID:26199317
Gbe1Ratnegative regulation of neuron apoptotic process  IMP 19165127 RGD 
1 to 10 of 10 rows

Cellular Component

  
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Original Reference(s)
Gbe1Ratcytoplasm is_active_inIBAMGI:1921435 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Gbe1Ratcytosol is_active_inISOGbe1 (Mus musculus)1624291 PMID:21856731RGDPMID:21856731
Gbe1Ratcytosol is_active_inIEAUniProtKB:Q9D6Y9 and ensembl:ENSMUSP000001326031600115GO_REF:0000107EnsemblGO_REF:0000107

Molecular Function
1 to 15 of 15 rows

  
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Original Reference(s)
Gbe1Rat1,4-alpha-glucan branching enzyme activity  IDA 1642743 RGD 
Gbe1Rat1,4-alpha-glucan branching enzyme activity enablesIEAUniProtKB:Q9D6Y9 and ensembl:ENSMUSP000001326031600115GO_REF:0000107EnsemblGO_REF:0000107
Gbe1Rat1,4-alpha-glucan branching enzyme activity enablesIEAInterPro:IPR0374391600115GO_REF:0000002InterProGO_REF:0000002
Gbe1Rat1,4-alpha-glucan branching enzyme activity enablesISOGbe1 (Mus musculus)1624291MGI:5293612 PMID:21856731RGDPMID:21856731
Gbe1Rat1,4-alpha-glucan branching enzyme activity enablesIEAUniProtKB:Q04446 and ensembl:ENSP000004108331600115GO_REF:0000107EnsemblGO_REF:0000107
Gbe1Rat1,4-alpha-glucan branching enzyme activity enablesIBACGD:CAL0000188820 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Gbe1Rat1,4-alpha-glucan branching enzyme activity enablesIEAEC:2.4.1.181600115GO_REF:0000003UniProtGO_REF:0000003
Gbe1Rat1,4-alpha-glucan branching enzyme activity enablesISOGBE1 (Homo sapiens)1624291 PMID:26199317 and PMID:8613547RGDPMID:26199317 and PMID:8613547
Gbe1Ratcarbohydrate binding  IDA 1642743 RGD 
Gbe1Ratcatalytic activity enablesIEAInterPro:IPR0060481600115GO_REF:0000002InterProGO_REF:0000002
Gbe1Ratcation binding enablesIEAInterPro:IPR0060481600115GO_REF:0000002InterProGO_REF:0000002
Gbe1Ratglycosyltransferase activity enablesIEAUniProtKB-KW:KW-03281600115GO_REF:0000043UniProtGO_REF:0000043
Gbe1Rathydrolase activity, hydrolyzing O-glycosyl compounds enablesIEAInterPro:IPR0041931600115GO_REF:0000002InterProGO_REF:0000002
Gbe1Ratprotein binding enablesISOGBE1 (Homo sapiens)1624291UniProtKB:O95210 more ...RGDPMID:24837458 and PMID:36217029
Gbe1Rattransferase activity enablesIEAUniProtKB-KW:KW-08081600115GO_REF:0000043UniProtGO_REF:0000043
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RGD Manual Annotations


  
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Original Reference(s)
Gbe1Ratglycogen biosynthetic pathway   IDA 1642743 RGD 

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

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Original Reference(s)
Gbe1Ratstarch and sucrose metabolic pathway  IEA 6907045 KEGGrno:00500

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#
Reference Title
Reference Citation
1. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. Bao Y, etal., J Clin Invest. 1996 Feb 15;97(4):941-8.
2. 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.
3. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
4. Risk prediction of pulmonary tuberculosis using genetic and conventional risk factors in adult Korean population. Hong EP, etal., PLoS One. 2017 Mar 29;12(3):e0174642. doi: 10.1371/journal.pone.0174642. eCollection 2017.
5. Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase. Kakhlon O, etal., J Neurochem. 2013 Oct;127(1):101-13. doi: 10.1111/jnc.12277. Epub 2013 May 9.
6. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
7. Single fiber analyses of glycogen-related proteins reveal their differential association with glycogen in rat skeletal muscle. Murphy RM, etal., Am J Physiol Cell Physiol. 2012 Dec 1;303(11):C1146-55. doi: 10.1152/ajpcell.00252.2012. Epub 2012 Sep 26.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
11. Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV. Radhakrishnan P, etal., Clin Dysmorphol. 2019 Jan;28(1):17-21. doi: 10.1097/MCD.0000000000000248.
12. GOA pipeline RGD automated data pipeline
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. Comprehensive gene review and curation RGD comprehensive gene curation
16. Glycogen-binding protein components of rat tissues. Satoh K and Sato K, Biochem Biophys Res Commun. 1980 Sep 16;96(1):28-33.
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PMID:8889548   PMID:12477932   PMID:14766980   PMID:19056867   PMID:23533145   PMID:26199317  



Gbe1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81122,181,194 - 22,446,640 (+)NCBIGRCr8
mRatBN7.2118,734,806 - 9,000,226 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl118,734,820 - 9,000,210 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1117,314,505 - 17,568,213 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01110,042,282 - 10,304,941 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0119,221,519 - 9,475,243 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0117,210,169 - 7,485,895 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl117,210,209 - 7,485,890 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01110,903,698 - 11,174,747 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4118,720,408 - 8,975,471 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1118,720,407 - 8,975,223 (+)NCBI
Celera118,665,430 - 8,924,865 (+)NCBICelera
Cytogenetic Map11p11NCBI
GBE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38381,489,703 - 81,761,645 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl381,489,703 - 81,761,645 (-)EnsemblGRCh38hg38GRCh38
GRCh37381,538,854 - 81,810,796 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36381,621,541 - 81,893,640 (-)NCBINCBI36Build 36hg18NCBI36
Build 34381,621,547 - 81,893,435NCBI
Celera382,281,720 - 82,553,857 (-)NCBICelera
Cytogenetic Map3p12.2NCBI
HuRef381,557,582 - 81,828,544 (-)NCBIHuRef
CHM1_1381,490,987 - 81,762,964 (-)NCBICHM1_1
T2T-CHM13v2.0381,543,135 - 81,815,065 (-)NCBIT2T-CHM13v2.0
Gbe1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391670,110,837 - 70,366,608 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1670,110,837 - 70,366,604 (+)EnsemblGRCm39 Ensembl
GRCm381670,313,949 - 70,569,720 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1670,313,949 - 70,569,716 (+)EnsemblGRCm38mm10GRCm38
MGSCv371670,314,332 - 70,569,961 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361670,196,767 - 70,452,396 (+)NCBIMGSCv36mm8
Celera1670,562,114 - 70,812,345 (+)NCBICelera
Cytogenetic Map16C2NCBI
cM Map1640.19NCBI
Gbe1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540710,692,303 - 10,963,489 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540710,692,082 - 10,959,236 (+)NCBIChiLan1.0ChiLan1.0
GBE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2281,606,232 - 81,883,060 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1381,611,018 - 81,887,850 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0381,587,604 - 81,861,214 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1383,632,214 - 83,904,546 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl383,632,215 - 83,904,546 (-)Ensemblpanpan1.1panPan2
GBE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1315,742,744 - 6,010,881 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl315,742,744 - 6,093,612 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha315,809,115 - 6,081,275 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0315,750,707 - 6,019,215 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl315,750,707 - 6,055,820 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1315,717,055 - 5,986,758 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0315,767,815 - 6,037,553 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0316,156,072 - 6,424,439 (+)NCBIUU_Cfam_GSD_1.0
LOC101958945
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049717,182,545 - 7,322,307 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365051,974,264 - 2,241,427 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365052,077,206 - 2,242,079 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GBE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13173,634,454 - 173,914,756 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113173,634,401 - 173,909,646 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213184,012,385 - 184,127,125 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GBE1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12295,228,926 - 95,503,798 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2295,229,133 - 95,504,840 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604171,375,169 - 71,641,554 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gbe1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248742,157,524 - 2,444,111 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248742,157,291 - 2,444,786 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in Gbe1
1567 total Variants

The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1300147Bp187Blood pressure QTL 1873.67arterial blood pressure trait (VT:2000000)blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)11169446234Rat
1598842Glom10Glomerulus QTL 103.4kidney glomerulus morphology trait (VT:0005325)index of glomerular damage (CMO:0001135)11135331169Rat
1558659Tescar1Testicular tumor resistance QTL 13.9testis integrity trait (VT:0010572)percentage of study population developing testis tumors during a period of time (CMO:0001261)11104193166113562Rat
634341Bw121Body weight QTL 1213.56abdominal fat pad mass (VT:1000711)abdominal fat pad weight (CMO:0000088)11121836709Rat
1641927Alcrsp10Alcohol response QTL 10alcohol metabolism trait (VT:0015089)blood ethanol level (CMO:0000535)11843667453436674Rat




alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 11 49 113 91 90 59 25 59 6 218 97 93 45 60 31



Ensembl Acc Id: ENSRNOT00000075964   ⟹   ENSRNOP00000067909
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl117,422,272 - 7,485,890 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000076695   ⟹   ENSRNOP00000068309
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl118,734,918 - 8,974,767 (+)Ensembl
Rnor_6.0 Ensembl117,210,209 - 7,413,999 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000084765   ⟹   ENSRNOP00000068640
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl118,734,820 - 9,000,210 (+)Ensembl
Rnor_6.0 Ensembl117,265,828 - 7,485,211 (+)Ensembl
RefSeq Acc Id: NM_001100502   ⟹   NP_001093972
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81122,181,276 - 22,446,640 (+)NCBI
mRatBN7.2118,734,862 - 9,000,226 (+)NCBI
Rnor_6.0117,210,169 - 7,485,895 (+)NCBI
Rnor_5.01110,903,698 - 11,174,747 (+)NCBI
RGSC_v3.4118,720,408 - 8,975,471 (+)RGD
Celera118,665,430 - 8,924,865 (+)RGD
Sequence:
RefSeq Acc Id: XM_039088228   ⟹   XP_038944156
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81122,240,702 - 22,446,640 (+)NCBI
mRatBN7.2118,795,451 - 9,000,221 (+)NCBI
RefSeq Acc Id: XM_039088229   ⟹   XP_038944157
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81122,181,194 - 22,394,649 (+)NCBI
mRatBN7.2118,734,806 - 8,948,238 (+)NCBI
RefSeq Acc Id: XM_063270436   ⟹   XP_063126506
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81122,240,702 - 22,394,649 (+)NCBI
RefSeq Acc Id: NP_001093972   ⟸   NM_001100502
- UniProtKB: A6K4X8 (UniProtKB/TrEMBL),   A6K4X9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000068640   ⟸   ENSRNOT00000084765
Ensembl Acc Id: ENSRNOP00000067909   ⟸   ENSRNOT00000075964
Ensembl Acc Id: ENSRNOP00000068309   ⟸   ENSRNOT00000076695
RefSeq Acc Id: XP_038944157   ⟸   XM_039088229
- Peptide Label: isoform X2
- UniProtKB: A6K4X9 (UniProtKB/TrEMBL)
Name Modeler Protein Id AA Range Protein Structure
AF-A0A0G2JTB2-F1-model_v2 AlphaFold A0A0G2JTB2 1-655 view protein structure


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

RGD ID:13698003
Promoter ID:EPDNEW_R8526
Type:multiple initiation site
Name:Gbe1_1
Description:1,4-alpha-glucan-branching enzyme
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_6.0117,210,210 - 7,210,270EPDNEW


1 to 40 of 41 rows
Database
Acc Id
Source(s)
BioCyc Gene G2FUF-22274 BioCyc
BioCyc Pathway PWY-5067 [glycogen biosynthesis II (from UDP-D-Glucose)] BioCyc
BioCyc Pathway Image PWY-5067 BioCyc
Ensembl Genes ENSRNOG00000051232 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000076695.3 UniProtKB/TrEMBL
  ENSRNOT00000084765.2 UniProtKB/TrEMBL
  ENSRNOT00000129667 ENTREZGENE
Gene3D-CATH 2.60.40.10 UniProtKB/TrEMBL
  2.60.40.1180 UniProtKB/TrEMBL
  Glycosidases UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7368249 IMAGE-MGC_LOAD
InterPro A-amylase_b_C UniProtKB/TrEMBL
  Branching_enzy UniProtKB/TrEMBL
  Glyco_hydro_13_cat_dom UniProtKB/TrEMBL
  Glyco_hydro_13_N UniProtKB/TrEMBL
  Glyco_hydro_b UniProtKB/TrEMBL
  Glyco_hydro_catalytic_core UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/TrEMBL
  Ig_E-set UniProtKB/TrEMBL
KEGG Report rno:288333 UniProtKB/TrEMBL
MGC_CLONE MGC:109648 IMAGE-MGC_LOAD
NCBI Gene 288333 ENTREZGENE
PANTHER 1,4-ALPHA-GLUCAN-BRANCHING ENZYME UniProtKB/TrEMBL
  PTHR43651 UniProtKB/TrEMBL
Pfam Alpha-amylase UniProtKB/TrEMBL
  Alpha-amylase_C UniProtKB/TrEMBL
  CBM_48 UniProtKB/TrEMBL
PharmGKB GBE1 RGD
PhenoGen Gbe1 PhenoGen
PIRSF GlgB UniProtKB/TrEMBL
RatGTEx ENSRNOG00000051232 RatGTEx
SMART Aamy UniProtKB/TrEMBL
Superfamily-SCOP Glyco_hydro_cat UniProtKB/TrEMBL
  Glycosyl hydrolase domain UniProtKB/TrEMBL
  SSF81296 UniProtKB/TrEMBL
UniProt A0A096MJY6_RAT UniProtKB/TrEMBL
  A0A0G2JTB2_RAT UniProtKB/TrEMBL
  A6K4X8 ENTREZGENE, UniProtKB/TrEMBL
  A6K4X9 ENTREZGENE, UniProtKB/TrEMBL
  A6K4Y0_RAT UniProtKB/TrEMBL
1 to 40 of 41 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-18 Gbe1  1,4-alpha-glucan branching enzyme 1  Gbe1  glucan (1,4-alpha-), branching enzyme 1  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2005-12-06 Gbe1  glucan (1,4-alpha-), branching enzyme 1  Gbe1_predicted  glucan (1,4-alpha-), branching enzyme 1 (predicted)  Symbol and Name updated 1559027 APPROVED
2005-01-12 Gbe1_predicted  glucan (1,4-alpha-), branching enzyme 1 (predicted)      Symbol and Name status set to approved 70820 APPROVED