Gaa (alpha glucosidase) - Rat Genome Database

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Advanced Search (OLGA)
Gene: Gaa (alpha glucosidase) Rattus norvegicus
Analyze
Symbol: Gaa
Name: alpha glucosidase
RGD ID: 735227
Description: Enables alpha-1,4-glucosidase activity and carbohydrate binding activity. Involved in glycogen catabolic process. Predicted to be located in lysosome and membrane. Predicted to be active in autolysosome lumen. Human ortholog(s) of this gene implicated in glycogen storage disease II. Orthologous to human GAA (alpha glucosidase); PARTICIPATES IN galactose metabolic pathway; galactosemia pathway; starch and sucrose metabolic pathway; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: acid (Pompe disease, glycogen storage disease type II); acid alpha-glucosidase; acid maltase; glucosidase, alpha; glucosidase, alpha, acid; lysosomal alpha-glucosidase; MGC72625
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
GRCr810105,028,106 - 105,045,365 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl10105,028,307 - 105,045,366 (+)EnsemblGRCr8
mRatBN7.210104,529,673 - 104,546,836 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10104,529,747 - 104,546,836 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx10109,632,590 - 109,649,496 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010109,095,616 - 109,112,522 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010104,450,455 - 104,467,465 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.010108,395,873 - 108,412,999 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10108,395,860 - 108,413,059 (+)Ensemblrn6Rnor6.0
Rnor_5.010108,007,708 - 108,024,833 (+)NCBIRnor_5.0Rnor_5.0rn5
Celera10103,077,652 - 103,094,623 (+)NCBICelera
Cytogenetic Map10q32.3NCBI
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,4'-trichlorobiphenyl  (ISO)
2,6-dinitrotoluene  (EXP)
2-acetamidofluorene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-amino-2,6-dinitrotoluene  (EXP)
4-methylumbelliferyl beta-D-glucoside  (ISO)
7,12-dimethyltetraphene  (ISO)
acrolein  (ISO)
acrylamide  (ISO)
actinomycin D  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
alpha-pinene  (ISO)
aristolochic acid A  (ISO)
Aroclor 1254  (EXP,ISO)
arsane  (ISO)
arsenic atom  (ISO)
azoxystrobin  (ISO)
beauvericin  (ISO)
benzo[a]pyrene  (ISO)
benzo[b]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (ISO)
cisplatin  (ISO)
cobalt dichloride  (EXP)
coumarin  (ISO)
deguelin  (ISO)
doxorubicin  (ISO)
endosulfan  (EXP)
enniatin  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
finasteride  (EXP)
fipronil  (EXP)
flutamide  (EXP)
folic acid  (ISO)
folpet  (ISO)
fulvestrant  (ISO)
genistein  (ISO)
gentamycin  (EXP)
hydrogen peroxide  (ISO)
ivermectin  (ISO)
lead diacetate  (EXP)
leflunomide  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
menadione  (ISO)
methidathion  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
nefazodone  (EXP)
nimesulide  (EXP)
nitrates  (ISO)
Nutlin-3  (ISO)
okadaic acid  (ISO)
ozone  (ISO)
paracetamol  (ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP)
picoxystrobin  (ISO)
piperonyl butoxide  (EXP)
pirinixic acid  (ISO)
potassium chromate  (ISO)
pregnenolone 16alpha-carbonitrile  (EXP)
pyrimidifen  (ISO)
quercetin  (ISO)
rotenone  (EXP,ISO)
SB 431542  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (ISO)
sunitinib  (ISO)
thioacetamide  (EXP)
titanium dioxide  (ISO)
trichloroethene  (EXP)
triphenyl phosphate  (ISO)
Triptolide  (EXP)
trovafloxacin  (ISO)
tungsten  (ISO)
valdecoxib  (EXP)
valproic acid  (ISO)
vinclozolin  (EXP)
Yessotoxin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. 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.
2. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
3. Lysosomal glycogen accumulation in rat liver and its in vivo kinetics after a single intraperitoneal injection of acarbose, an alpha-glucosidase inhibitor. Konishi Y, etal., J Biochem (Tokyo). 1990 Feb;107(2):197-201.
4. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
8. GOA pipeline RGD automated data pipeline
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis. Sleat DE, etal., J Biol Chem. 1996 Aug 9;271(32):19191-8.
12. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
13. Glycogen metabolism in the rat visceral yolk sac. 2. Activity of glycogen-degrading enzymes. Williams KE, etal., Placenta. 1995 Dec;16(8):719-26.
14. The human acid alpha-glucosidase gene is a novel target of the Notch-1/Hes-1 signaling pathway. Yan B, etal., J Biol Chem 2002 Aug 16;277(33):29760-4. Epub 2002 Jun 13.
15. Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV. Yi H, etal., Mol Genet Metab Rep. 2016 Oct 4;9:31-33. doi: 10.1016/j.ymgmr.2016.09.008. eCollection 2016 Dec.
Additional References at PubMed
PMID:5264799   PMID:7323947   PMID:7717400   PMID:9384603   PMID:9505277   PMID:9668092   PMID:10547605   PMID:10838256   PMID:10931430   PMID:11328962   PMID:11590121   PMID:11785984  
PMID:12115977   PMID:15169761   PMID:15207257   PMID:15489334   PMID:15674828   PMID:16917947   PMID:17897319   PMID:19056867   PMID:19946888   PMID:20080761   PMID:23376485   PMID:23533145  
PMID:25002582   PMID:29061980  


Genomics

Comparative Map Data
Gaa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810105,028,106 - 105,045,365 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl10105,028,307 - 105,045,366 (+)EnsemblGRCr8
mRatBN7.210104,529,673 - 104,546,836 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10104,529,747 - 104,546,836 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx10109,632,590 - 109,649,496 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010109,095,616 - 109,112,522 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010104,450,455 - 104,467,465 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.010108,395,873 - 108,412,999 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10108,395,860 - 108,413,059 (+)Ensemblrn6Rnor6.0
Rnor_5.010108,007,708 - 108,024,833 (+)NCBIRnor_5.0Rnor_5.0rn5
Celera10103,077,652 - 103,094,623 (+)NCBICelera
Cytogenetic Map10q32.3NCBI
GAA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381780,101,581 - 80,119,881 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1780,101,533 - 80,119,881 (+)Ensemblhg38GRCh38
GRCh371778,075,380 - 78,093,680 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361775,689,950 - 75,708,274 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341775,689,876 - 75,708,273NCBI
Celera1774,704,156 - 74,722,487 (+)NCBICelera
Cytogenetic Map17q25.3NCBI
HuRef1773,516,452 - 73,534,833 (+)NCBIHuRef
CHM1_11778,161,682 - 78,180,006 (+)NCBICHM1_1
T2T-CHM13v2.01781,002,020 - 81,020,360 (+)NCBIT2T-CHM13v2.0
Gaa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911119,158,789 - 119,176,284 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11119,158,713 - 119,176,280 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm3811119,267,963 - 119,285,458 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11119,267,887 - 119,285,454 (+)Ensemblmm10GRCm38
MGSCv3711119,129,281 - 119,147,012 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv3611119,084,134 - 119,101,542 (+)NCBIMGSCv36mm8
Celera11131,012,899 - 131,030,625 (+)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1183.35NCBI
Gaa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555062,764,959 - 2,783,231 (-)Ensembl
ChiLan1.0NW_0049555062,764,959 - 2,783,231 (-)NCBIChiLan1.0ChiLan1.0
GAA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21996,163,010 - 96,181,590 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan117100,991,586 - 101,009,881 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01774,188,296 - 74,206,593 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11779,723,683 - 79,741,839 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1779,723,699 - 79,741,839 (+)EnsemblpanPan2panpan1.1
GAA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.191,601,092 - 1,615,582 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl91,601,121 - 1,656,597 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha92,240,939 - 2,255,430 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.092,233,266 - 2,247,757 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl92,233,268 - 2,247,881 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.192,256,768 - 2,271,257 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.092,382,084 - 2,396,575 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.092,463,363 - 2,477,882 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Gaa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056022,269,664 - 2,286,386 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365944,125,595 - 4,142,261 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GAA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl122,315,809 - 2,341,327 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1122,315,807 - 2,339,867 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2122,297,287 - 2,411,558 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GAA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11672,064,315 - 72,083,293 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1672,067,267 - 72,083,349 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366607743,368,453 - 43,388,090 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gaa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248019,217,639 - 9,235,931 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248019,217,633 - 9,235,931 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Gaa
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1964,743,466 - 64,760,490 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Gaa
108 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:217
Count of miRNA genes:156
Interacting mature miRNAs:165
Transcripts:ENSRNOT00000075796
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
7387312Bw125Body weight QTL 12530.0047retroperitoneal fat pad mass (VT:0010430)retroperitoneal fat pad weight (CMO:0000356)1065390777107713808Rat
1354641Bvd2Brain ventricular dilatation QTL 26.360.001brain ventricle morphology trait (VT:0000822)hydrocephalus severity score (CMO:0001881)1093723381107556066Rat
8657410Bp374Blood pressure QTL 374heart left ventricle size trait (VT:0002753)heart left ventricle end-diastolic diameter (CMO:0000982)1067476608107713808Rat
61449Ciaa2CIA Autoantibody QTL 27.1blood autoantibody amount (VT:0003725)calculated serum anti-type 2 collagen antibody titer (CMO:0001279)1063719161107713808Rat
61387Bp1Blood pressure QTL 15.1arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)1052269185107713808Rat
61325Aia5Adjuvant induced arthritis QTL 50.01joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1023948641107713808Rat
1298078Stresp5Stress response QTL 52.990.00025blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)1042546145107713808Rat
12903252Cm113Cardiac mass QTL 1130.047heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)1066817119107713808Rat
61396Bp9Blood pressure QTL 94.80.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1068920187107713808Rat
2298548Neuinf7Neuroinflammation QTL 73.4nervous system integrity trait (VT:0010566)spinal cord RT1-B protein level (CMO:0002132)1064939013107713808Rat
1302404Cia27Collagen induced arthritis QTL 272.60.0045joint integrity trait (VT:0010548)experimental arthritis severity measurement (CMO:0001459)1076951790107713808Rat
1358915Stresp7Stress response QTL 73.52blood norepinephrine amount (VT:0005663)plasma norepinephrine level (CMO:0001010)1065307813107713808Rat
70168Eae12Experimental allergic encephalomyelitis QTL 120.0009nervous system integrity trait (VT:0010566)experimental autoimmune encephalomyelitis incidence/prevalence measurement (CMO:0001046)1073599825107713808Rat
634320Niddm49Non-insulin dependent diabetes mellitus QTL 494.41blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)1089039175107713808Rat
70363Bp71Blood pressure QTL 710.04arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1061843496106843496Rat
70171Cari1Carrageenan-induced inflammation QTL 14.90.0005hypodermis integrity trait (VT:0010550)inflammatory exudate volume (CMO:0001429)1054296227107713808Rat
6893366Bw106Body weight QTL 1060.30.47body mass (VT:0001259)body weight (CMO:0000012)1070698731107713808Rat
1576313Pia25Pristane induced arthritis QTL 25joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1096620293107713808Rat
12903269Am15Aortic mass QTL 150.042aorta mass (VT:0002845)aorta weight to aorta length to body weight ratio (CMO:0002722)1066817119107713808Rat
12903266Cm114Cardiac mass QTL 1140.02heart right ventricle mass (VT:0007033)heart right ventricle weight to body weight ratio (CMO:0000914)1066817119107713808Rat
1578672Bmd16Bone mineral density QTL 166.2femur mineral mass (VT:0010011)compact volumetric bone mineral density (CMO:0001730)1097202388107556066Rat
631267Cia20Collagen induced arthritis QTL 203.2joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1023948641107713808Rat
61354Pia10Pristane induced arthritis QTL 100.01joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1023948641107713808Rat
1576307Cia28Collagen induced arthritis QTL 28joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1096620293107713808Rat
631269Cia22Collagen induced arthritis QTL 228.9joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1040535708107713808Rat
1576308Schws1Schwannoma susceptibility QTL 10.0041nervous system integrity trait (VT:0010566)percentage of study population developing trigeminal nerve neurilemmomas during a period of time (CMO:0002017)1040535708107713808Rat
2313103Bss80Bone structure and strength QTL 8020.0001tibia strength trait (VT:1000284)tibia midshaft endosteal cross-sectional area (CMO:0001716)1062556066107556066Rat
631268Cia21Collagen induced arthritis QTL 213.1joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1014991535107713808Rat
631270Cia23Collagen induced arthritis QTL 233.9joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1040535708107713808Rat
1581559Eae18Experimental allergic encephalomyelitis QTL 180.00002nervous system integrity trait (VT:0010566)experimental autoimmune encephalomyelitis severity score (CMO:0001419)1066108888107555881Rat
70193Mcs7Mammary carcinoma susceptibility QTL 72.38mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)1072724423107713808Rat
12880372Am12Aortic mass QTL 120.003aorta mass (VT:0002845)aorta weight to aorta length to body weight ratio (CMO:0002722)1066817119107713808Rat
2313105Bss79Bone structure and strength QTL 791.80.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)1062556066107556066Rat
61363Oia3Oil induced arthritis QTL 30.001joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1087807758107713808Rat
12880375Kidm66Kidney mass QTL 660.009kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1066817119107713808Rat
2316949Gluco60Glucose level QTL 603.7blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1014991535107556066Rat
12880370Cm105Cardiac mass QTL 1050.008heart mass (VT:0007028)heart wet weight to body weight ratio (CMO:0002408)1066817119107713808Rat
1600367Mcs15Mammary carcinoma susceptibility QTL 154.5mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)1072724423107713808Rat
12880371Cm106Cardiac mass QTL 1060.007heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)1066817119107713808Rat
631537Oia4Oil induced arthritis QTL 4joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1076128947107713808Rat
1300137Bp186Blood pressure QTL 1863.57arterial blood pressure trait (VT:2000000)blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)1091127270107556066Rat
634354Rends3Renal damage susceptibility QTL 30.05kidney blood vessel morphology trait (VT:0000530)organ lesion measurement (CMO:0000677)1061997479106997479Rat
61436Cia5Collagen induced arthritis QTL 54.9joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1091727883107713808Rat
11565453Kidm58Kidney mass QTL 580.002kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1066817119107713808Rat
2301405Cm69Cardiac mass QTL 690.031heart mass (VT:0007028)heart wet weight to body weight ratio (CMO:0002408)1066817119107713808Rat
1578663Bss18Bone structure and strength QTL 183.6femur width (VT:1000666)femoral neck width (CMO:0001695)1097202388107556066Rat


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 67 162 91 90 59 92 59 6 356 192 11 141 81 92 31 17 17

Sequence


Ensembl Acc Id: ENSRNOT00000075796   ⟹   ENSRNOP00000064500
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl10105,028,307 - 105,045,366 (+)Ensembl
mRatBN7.2 Ensembl10104,529,747 - 104,546,836 (+)Ensembl
Rnor_6.0 Ensembl10108,395,860 - 108,413,059 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000173222   ⟹   ENSRNOP00000104184
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl10105,029,586 - 105,045,363 (+)Ensembl
RefSeq Acc Id: NM_199118   ⟹   NP_954549
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr810105,028,355 - 105,045,365 (+)NCBI
mRatBN7.210104,529,824 - 104,546,836 (+)NCBI
Rnor_6.010108,395,989 - 108,412,999 (+)NCBI
Rnor_5.010108,007,708 - 108,024,833 (+)NCBI
Celera10103,077,652 - 103,094,623 (+)RGD
Sequence:
RefSeq Acc Id: XM_006247905   ⟹   XP_006247967
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr810105,028,106 - 105,045,365 (+)NCBI
mRatBN7.210104,529,673 - 104,546,836 (+)NCBI
Rnor_6.010108,395,873 - 108,412,999 (+)NCBI
Rnor_5.010108,007,708 - 108,024,833 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_954549 (Get FASTA)   NCBI Sequence Viewer  
  XP_006247967 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH61753 (Get FASTA)   NCBI Sequence Viewer  
  EDM06781 (Get FASTA)   NCBI Sequence Viewer  
  EDM06782 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000104184
GenBank Protein Q6P7A9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_954549   ⟸   NM_199118
- Peptide Label: precursor
- UniProtKB: Q6P7A9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006247967   ⟸   XM_006247905
- Peptide Label: isoform X1
- UniProtKB: M0R544 (UniProtKB/TrEMBL),   A6HL76 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000064500   ⟸   ENSRNOT00000075796
Ensembl Acc Id: ENSRNOP00000104184   ⟸   ENSRNOT00000173222
Protein Domains
P-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6P7A9-F1-model_v2 AlphaFold Q6P7A9 1-953 view protein structure

Transcriptome

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

Promoters
RGD ID:13697943
Promoter ID:EPDNEW_R8467
Type:initiation region
Name:Gaa_1
Description:glucosidase, alpha, acid
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_6.010108,395,932 - 108,395,992EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:735227 AgrOrtholog
BioCyc Gene G2FUF-22496 BioCyc
BioCyc Pathway PWY-5941 [glycogen degradation II] BioCyc
BioCyc Pathway Image PWY-5941 BioCyc
Ensembl Genes ENSRNOG00000047656 Ensembl, ENTREZGENE
Ensembl Transcript ENSRNOT00000173222 ENTREZGENE
Gene3D-CATH 2.60.40.1180 UniProtKB/Swiss-Prot
  4.10.110.10 UniProtKB/Swiss-Prot
  Glycosidases UniProtKB/Swiss-Prot
  glycosyl hydrolase (family 31) UniProtKB/Swiss-Prot
IMAGE_CLONE IMAGE:5599964 IMAGE-MGC_LOAD
InterPro Gal_mutarotase_sf_dom UniProtKB/Swiss-Prot
  Glyco_hydro_31 UniProtKB/Swiss-Prot
  Glyco_hydro_31_AS UniProtKB/Swiss-Prot
  Glyco_hydro_31_C UniProtKB/Swiss-Prot
  Glyco_hydro_31_CS UniProtKB/Swiss-Prot
  Glyco_hydro_31_N_dom UniProtKB/Swiss-Prot
  Glyco_hydro_b UniProtKB/Swiss-Prot
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot
  P_trefoil_CS UniProtKB/Swiss-Prot
  P_trefoil_dom UniProtKB/Swiss-Prot
  P_trefoil_dom_sf UniProtKB/Swiss-Prot
KEGG Report rno:367562 UniProtKB/Swiss-Prot
MGC_CLONE MGC:72625 IMAGE-MGC_LOAD
NCBI Gene 367562 ENTREZGENE
PANTHER ALPHA-GLUCOSIDASE UniProtKB/Swiss-Prot
  LYSOSOMAL ALPHA-GLUCOSIDASE UniProtKB/Swiss-Prot
Pfam Gal_mutarotas_2 UniProtKB/Swiss-Prot
  Glyco_hydro_31 UniProtKB/Swiss-Prot
  Glyco_hydro_31_3rd UniProtKB/Swiss-Prot
  Trefoil UniProtKB/Swiss-Prot
PhenoGen Gaa PhenoGen
PROSITE GLYCOSYL_HYDROL_F31_1 UniProtKB/Swiss-Prot
  GLYCOSYL_HYDROL_F31_2 UniProtKB/Swiss-Prot
  P_TREFOIL_1 UniProtKB/Swiss-Prot
  P_TREFOIL_2 UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000047656 RatGTEx
SMART SM00018 UniProtKB/Swiss-Prot
Superfamily-SCOP Glycosyl hydrolase domain UniProtKB/Swiss-Prot
  SSF51445 UniProtKB/Swiss-Prot
  SSF74650 UniProtKB/Swiss-Prot
UniProt A0ABK0LQA5_RAT UniProtKB/TrEMBL
  A6HL76 ENTREZGENE, UniProtKB/TrEMBL
  LYAG_RAT UniProtKB/Swiss-Prot
  M0R544 ENTREZGENE, UniProtKB/TrEMBL
  Q6P7A9 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-12-10 Gaa  alpha glucosidase  Gaa  glucosidase, alpha, acid  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2005-07-08 Gaa  glucosidase, alpha, acid    glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)  Name updated 1299863 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_disease deficiency of the human homolog causes glycogenosis type II, which is characterized by inherited myopathy and cardiomyopathy 1302856