ENSMUSG00000025579


Mus musculus

Features
Gene ID: ENSMUSG00000025579
  
Biological name :Gaa
  
Synonyms : Gaa / Lysosomal alpha-glucosidase / P70699
  
Possible biological names infered from orthology : glucosidase alpha, acid / P10253
  
Species: Mus musculus
  
Chr. number: 11
Strand: 1
Band: E2
Gene start: 119267887
Gene end: 119285454
  
Corresponding Affymetrix probe sets: 10383088 (MoGene1.0st)   1419428_a_at (Mouse Genome 430 2.0 Array)   1436849_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000115128
Ensembl peptide - ENSMUSP00000121984
Ensembl peptide - ENSMUSP00000119702
Ensembl peptide - ENSMUSP00000026666
Ensembl peptide - ENSMUSP00000101865
Ensembl peptide - ENSMUSP00000101866
NCBI entrez gene - 14387     See in Manteia.
MGI - MGI:95609
RefSeq - NM_001159324
RefSeq - NM_008064
RefSeq Peptide - NP_001152796
RefSeq Peptide - NP_032090
swissprot - P70699
swissprot - A2AFL3
swissprot - F6R5R5
swissprot - F6VEG4
swissprot - A2AFL5
Ensembl - ENSMUSG00000025579
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gaaENSDARG00000090714Danio rerio
 GAA (1 of many)ENSDARG00000116493Danio rerio
 GAAENSGALG00000038853Gallus gallus
 GAAENSG00000171298Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mgam / maltase-glucoamylase / O43451*ENSMUSG0000006858741
Sis / sucrase-isomaltase / SI* / P14410*ENSMUSG0000002779038
Ganab / Q8BHN3 / Neutral alpha-glucosidase AB / Q14697* / glucosidase II alpha subunit*ENSMUSG0000007165027
Ganc / glucosidase alpha, neutral C / Q8TET4*ENSMUSG0000006264626
Q69ZQ1 / AI464131 / Myosis-regulating glycosidase / MYORG* / Q6NSJ0* / myogenesis regulating glycosidase (putative)*ENSMUSG0000004631215


Protein motifs (from Interpro)
Interpro ID Name
 IPR000322  Glycoside hydrolase family 31
 IPR000519  P-type trefoil domain
 IPR011013  Galactose mutarotase-like domain superfamily
 IPR017853  Glycoside hydrolase superfamily
 IPR017957  P-type trefoil, conserved site
 IPR025887  Glycoside hydrolase family 31, N-terminal domain
 IPR030458  Glycosyl hydrolases family 31, active site
 IPR030459  Glycosyl hydrolases family 31, conserved site
 IPR031727  Galactose mutarotase, N-terminal barrel


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000023 maltose metabolic process IEA
 biological_processGO:0002026 regulation of the force of heart contraction IMP
 biological_processGO:0002086 diaphragm contraction ISO
 biological_processGO:0003007 heart morphogenesis IMP
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0005977 glycogen metabolic process IMP
 biological_processGO:0005980 glycogen catabolic process ISS
 biological_processGO:0006941 striated muscle contraction IMP
 biological_processGO:0007040 lysosome organization ISO
 biological_processGO:0007626 locomotory behavior IMP
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009888 tissue development IMP
 biological_processGO:0043181 vacuolar sequestering ISO
 biological_processGO:0046716 muscle cell cellular homeostasis IMP
 biological_processGO:0050884 neuromuscular process controlling posture IMP
 biological_processGO:0050885 neuromuscular process controlling balance IMP
 biological_processGO:0060048 cardiac muscle contraction ISO
 cellular_componentGO:0005764 lysosome TAS
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA
 molecular_functionGO:0004558 alpha-1,4-glucosidase activity IEA
 molecular_functionGO:0004574 oligo-1,6-glucosidase activity ISO
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016798 hydrolase activity, acting on glycosyl bonds IEA
 molecular_functionGO:0030246 carbohydrate binding IEA
 molecular_functionGO:0032450 maltose alpha-glucosidase activity IEA
 molecular_functionGO:0090599 alpha-glucosidase activity IEA


Pathways (from Reactome)
Pathway description
Neutrophil degranulation
Glycogen breakdown (glycogenolysis)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

Allelic Composition: Gaatm2Rabn/Gaatm2Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Gaatm1.1Rabn/Gaatm1.1Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6 * FVB/N

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
Show

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0000276 right ventricle hypertrophy "increased size of the right ventricle" [J:33629]
Show

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0000277 abnormal heart shape "malformation of the form or the patterning of the heart" [J:18048]
Show

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0000278 abnormal myocardial fiber morphology "malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]
Show

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

 MP:0000748 progressive muscle weakness "increasing loss of strength over time" [MGI:CLS, J:67994]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

Allelic Composition: Gaatm1Vdp/Gaatm1Vdp
Genetic Background: B6.129P2-Gaatm1Vdp

Allelic Composition: Gaatm2Rabn/Gaatm2Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Gaatm1.1Rabn/Gaatm1.1Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6 * FVB/N

 MP:0000751 myopathy "any abnormal condition or disease of the skeletal muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:42574]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

Allelic Composition: Gaatm2Rabn/Gaatm2Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Gaatm1.1Rabn/Gaatm1.1Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6 * FVB/N

 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]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

Allelic Composition: Gaatm2Rabn/Gaatm2Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

Allelic Composition: Gaatm2Rabn/Gaatm2Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

Allelic Composition: Gaatm2Rabn/Gaatm2Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

Allelic Composition: Gaatm2Rabn/Gaatm2Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Gaatm1.1Rabn/Gaatm1.1Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6 * FVB/N

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gaatm1Vdp/Gaatm1Vdp
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)

 MP:0002269 muscular atrophy "a wasting of muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gaatm1Vdp/Gaatm1Vdp
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)

 MP:0002625 left ventricle hypertrophy "increased size of the left ventricle" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0002753 dilated left ventricle "an expansion in the volume of the lower left chamber of the heart" [J:82859, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0002754 dilated right ventricle "an expansion in the volume of the lower right chamber of the heart" [J:82859, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Slc8a1tm1Hssh/Slc8a1tm1Hssh,Tg(Myh6-SLC8A1)AMord/?
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0002757 reduced vertical activity "lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Gaatm1Vdp/Gaatm1Vdp
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)

 MP:0003137 abnormal impulse conducting system conduction "anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart" [hdene:Howard Dene , Mouse Genome Informatics Curator, J:92050, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Gaatm1Vdp/Gaatm1Vdp
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)

 MP:0003172 abnormal lysosome physiology "ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Trim28tm1.1Ipc/Trim28tm1.2Ipc,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA

 MP:0003898 abnormal QRS complex "anomaly in the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarise prior to their contraction" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Gaatm1Vdp/Gaatm1Vdp
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)

 MP:0004087 abnormal muscle fiber morphology "malformed or poorly developed muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

 MP:0004090 abnormal sarcomere morphology "any structural abnormality in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

 MP:0004091 abnormal Z lines "any structural abnormality in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

 MP:0004819 decreased skeletal muscle mass "reduction in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gaatm1Vdp/Gaatm1Vdp
Genetic Background: B6.129P2-Gaatm1Vdp

 MP:0005058 abnormal lysosome morphology "anomalous structure of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

 MP:0005330 cardiomyopathy "diseases of the heart (myocardium); may result from many causes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:80681]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

Allelic Composition: Gaatm1Vdp/Gaatm1Vdp
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)

Allelic Composition: Gaatm2Rabn/Gaatm2Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0005438 abnormal glycogen homeostasis "abnormal processing and or utilization 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: Gaatm1Vdp/Gaatm1Vdp
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)

 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: Trim28tm1.1Ipc/Trim28tm1.2Ipc,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA

 MP:0006087 increased body mass index "greater than normal average of a measure of weight for height" [ncbi:NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Gaatm1Vdp/Gaatm1Vdp
Genetic Background: B6.129P2-Gaatm1Vdp

 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"]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

 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: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

Allelic Composition: Gaatm2Rabn/Gaatm2Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Gaatm1.1Rabn/Gaatm1.1Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Gaatm1Rabn/Gaatm1Rabn,Tg(CMV-GAA*P545L)#Kjv/0
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0014071 increased cardiac muscle glycogen level "greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle" [MGI:Anna]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

Allelic Composition: Gaatm2Rabn/Gaatm2Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Gaatm1.1Rabn/Gaatm1.1Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6 * FVB/N

 MP:0014074 increased brain glycogen level "greater than the normal concentration of a readily converted carbohydrate reserve in brain" [MGI:Anna]
Show

Allelic Composition: Plp1jp-rsh/Y
Genetic Background: involves: 101 * C3H

Allelic Composition: Gaatm2Rabn/Gaatm2Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Gaatm1.1Rabn/Gaatm1.1Rabn
Genetic Background: involves: 129X1/SvJ * C57BL/6 * FVB/N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000019528 Gyg / Q9R062 / glycogenin / GYG1* / P46976* / glycogenin 1*  / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr