ENSMUSG00000022707


Mus musculus

Features
Gene ID: ENSMUSG00000022707
  
Biological name :Gbe1
  
Synonyms : 1,4-alpha-glucan-branching enzyme / Gbe1 / Q9D6Y9
  
Possible biological names infered from orthology : 1,4-alpha-glucan branching enzyme 1 / Q04446
  
Species: Mus musculus
  
Chr. number: 16
Strand: 1
Band: C2
Gene start: 70313949
Gene end: 70569716
  
Corresponding Affymetrix probe sets: 10436500 (MoGene1.0st)   1420654_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000023393
Ensembl peptide - ENSMUSP00000127642
Ensembl peptide - ENSMUSP00000131320
Ensembl peptide - ENSMUSP00000132603
NCBI entrez gene - 74185     See in Manteia.
MGI - MGI:1921435
RefSeq - NM_028803
RefSeq Peptide - NP_083079
swissprot - Q9D6Y9
swissprot - F6ZHD8
swissprot - G3UW30
Ensembl - ENSMUSG00000022707
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gbe1aENSDARG00000029051Danio rerio
 gbe1bENSDARG00000099524Danio rerio
 GBE1ENSGALG00000042771Gallus gallus
 GBE1ENSG00000114480Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR004193  Glycoside hydrolase, family 13, N-terminal
 IPR006047  Glycosyl hydrolase, family 13, catalytic domain
 IPR006048  Alpha-amylase/branching enzyme, C-terminal all beta
 IPR013783  Immunoglobulin-like fold
 IPR014756  Immunoglobulin E-set
 IPR017853  Glycoside hydrolase superfamily
 IPR037439  1,4-alpha-glucan-branching enzyme


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0005978 glycogen biosynthetic process IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0003844 1,4-alpha-glucan branching enzyme activity IEA
 molecular_functionGO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0030246 carbohydrate binding IEA
 molecular_functionGO:0043169 cation binding IEA
 molecular_functionGO:0102752 1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis) IEA


Pathways (from Reactome)
Pathway description
Glycogen synthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000255 vasculature congestion "obstruction of the normal flux of blood within the blood vessel network" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ptpn11tm3Bgn/Ptpn11tm3Bgn
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Gbe1tm1.1Hoa/Gbe1tm1.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000746 weakness "state of being infirm or less strong than littermates" [J:45400]
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Allelic Composition: Gbe1tm2.1Hoa/Gbe1tm2.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Gbe1tm2.1Hoa/Gbe1tm2.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000759 abnormal skeletal muscle morphology "anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
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Allelic Composition: Ptpn11tm3Bgn/Ptpn11tm3Bgn
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0002078 abnormal glucose homeostasis "anomaly in the state of equilibrium or processing in the body with respect to glucose in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Gbe1tm2.1Hoa/Gbe1tm2.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Gbe1tm2Hoa/Gbe1tm2Hoa
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Gbe1tm2.1Hoa/Gbe1tm2.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002652 thin myocardial wall "thinly developed cardiac muscle layers" [il:Ira Lu , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ptpn11tm3Bgn/Ptpn11tm3Bgn
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0002715 reduced glycogen catabolism rate "decreased breakdown of this highly branched polysaccharide composed of glucose subunits; glycogen is the major carbohydrate storage form in the body " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003333 liver fibrosis "invasion of fibrous connective tissue into the liver, often resulting from inflammation or injury " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Gbe1tm2.1Hoa/Gbe1tm2.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003567 abnormal cardiomyocyte proliferation "anomalous division or replication of cardiac muscle cells" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ptpn11tm3Bgn/Ptpn11tm3Bgn
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0005291 abnormal glucose tolerance "deviation from the normal response to oral consumption or intravenous injection of specified amounts of glucose; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005294 abnormal heart ventricle morphology "structural anomaly of one or both of the two lower chambers of the heart " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ptpn11tm3Bgn/Ptpn11tm3Bgn
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0005333 decreased heart rate "fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84764]
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Allelic Composition: Ptpn11tm3Bgn/Ptpn11tm3Bgn
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0005439 decreased glycogen level "less than the normal concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ptpn11tm3Bgn/Ptpn11tm3Bgn
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0005440 increased glycogen level "greater than the normal concentration of this readily converted carbohydrate reserve, found in most tissues of the body, especially liver and muscle" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gbe1tm2Hoa/Gbe1tm2Hoa
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Gbe1tm2.1Hoa/Gbe1tm2.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005560 decreased circulating glucose level "less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0010018 lung vascular congestion "obstruction of the normal flux of blood within the blood vessel network of the lung" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ptpn11tm3Bgn/Ptpn11tm3Bgn
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0010019 liver vascular congestion "obstruction of the normal flux of blood within the blood vessel network of the liver" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptpn11tm3Bgn/Ptpn11tm3Bgn
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Gbe1tm2.1Hoa/Gbe1tm2.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0010090 increased circulating creatine kinase level "an elevation in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gbe1tm2.1Hoa/Gbe1tm2.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0010398 decreased liver glycogen level "less than the normal concentration of a readily converted carbohydrate reserve in liver" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gbe1tm1.1Hoa/Gbe1tm1.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0010399 decreased skeletal muscle glycogen level "less than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gbe1tm1.1Hoa/Gbe1tm1.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0010400 increased liver glycogen level "greater than the normal concentration of a readily converted carbohydrate reserve in liver" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Gbe1tm2Hoa/Gbe1tm2Hoa
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Gbe1tm2.1Hoa/Gbe1tm2.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0010401 increased skeletal muscle glycogen level "greater than the normal concentration of a readily converted carbohydrate reserve in skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
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Allelic Composition: Ptpn11tm3Bgn/Ptpn11tm3Bgn
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0010580 decreased heart left ventricle size "less than average size of the left ventricle compared to the average for a particular population" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ptpn11tm3Bgn/Ptpn11tm3Bgn
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Gbe1tm1.1Hoa/Gbe1tm1.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Ptpn11tm3Bgn/Ptpn11tm3Bgn
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0012051 spasticity "a motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes and increased resistance to stretch" [HP:0001257, MGI:csmith]
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Allelic Composition: Gbe1tm2.1Hoa/Gbe1tm2.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0013278 decreased fasted circulating glucose level "reduction in the amount of glucose in the blood at some defined time point after eating compared to controls" [MGI:Armida_Di_Fenza]
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Allelic Composition: Gbe1tm2.1Hoa/Gbe1tm2.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0014068 abnormal muscle glycogen level "the normal concentration of a readily converted carbohydrate reserve in muscle tissue" [MGI:csmith]
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Allelic Composition: Gbe1tm2Hoa/Gbe1tm2Hoa
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Gbe1tm2.1Hoa/Gbe1tm2.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0014074 increased brain glycogen level "greater than the normal concentration of a readily converted carbohydrate reserve in brain" [MGI:Anna]
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Allelic Composition: Gbe1tm2Hoa/Gbe1tm2Hoa
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Gbe1tm2.1Hoa/Gbe1tm2.1Hoa
Genetic Background: involves: 129S7/SvEvBrd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000019528 Gyg / Q9R062 / glycogenin / GYG1* / P46976* / glycogenin 1*  / reaction
 ENSMUSG00000003865 Gys1 / Q9Z1E4 / Glycogen [starch] synthase, muscle / P13807* / glycogen synthase 1*  / reaction






 

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