Gaa (alpha glucosidase) - Rat Genome Database

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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. Located in lysosome. 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 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene; 4-amino-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
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.210104,529,673 - 104,546,836 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10104,529,747 - 104,546,836 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10109,632,590 - 109,649,496 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.010109,095,616 - 109,112,522 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.010104,450,455 - 104,467,465 (+)NCBIRnor_WKY
Rnor_6.010108,395,873 - 108,412,999 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10108,395,860 - 108,413,059 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010108,007,708 - 108,024,833 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera10103,077,652 - 103,094,623 (+)NCBICelera
Cytogenetic Map10q32.3NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (EXP)
2-acetamidofluorene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-amino-2,6-dinitrotoluene  (EXP)
4-methylumbelliferyl beta-D-glucoside  (ISO)
acrolein  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
alpha-pinene  (ISO)
aristolochic acid  (ISO)
Aroclor 1254  (EXP,ISO)
azoxystrobin  (ISO)
beauvericin  (ISO)
benzo[a]pyrene  (ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
cisplatin  (ISO)
cobalt dichloride  (EXP)
coumarin  (ISO)
deguelin  (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)
menadione  (ISO)
methidathion  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
nefazodone  (EXP)
nimesulide  (EXP)
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)
silicon dioxide  (EXP,ISO)
sunitinib  (ISO)
thioacetamide  (EXP)
titanium dioxide  (ISO)
trichloroethene  (EXP)
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 Function

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
mRatBN7.210104,529,673 - 104,546,836 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10104,529,747 - 104,546,836 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10109,632,590 - 109,649,496 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.010109,095,616 - 109,112,522 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.010104,450,455 - 104,467,465 (+)NCBIRnor_WKY
Rnor_6.010108,395,873 - 108,412,999 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10108,395,860 - 108,413,059 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010108,007,708 - 108,024,833 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
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.p13 Ensembl1780,101,556 - 80,119,881 (+)EnsemblGRCh38hg38GRCh38
GRCh371778,075,380 - 78,093,680 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361775,689,950 - 75,708,274 (+)NCBINCBI36Build 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 Ensembl
GRCm3811119,267,963 - 119,285,458 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11119,267,887 - 119,285,454 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711119,129,281 - 119,147,012 (+)NCBIGRCm37MGSCv37mm9NCBIm37
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 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555062,764,959 - 2,783,231 (-)NCBIChiLan1.0ChiLan1.0
GAA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11779,723,683 - 79,741,839 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1779,723,699 - 79,741,839 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01774,188,296 - 74,206,593 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
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 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha92,240,939 - 2,255,430 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.092,233,266 - 2,247,757 (-)NCBIROS_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_1.0
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 Ensembl122,314,591 - 2,336,988 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
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 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
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_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248019,217,633 - 9,235,931 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Gaa
123 total Variants
miRNA Target Status

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 (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2303118Mamtr7Mammary tumor resistance QTL 70.003mammary gland integrity trait (VT:0010552)mammary tumor growth rate (CMO:0000344)109658275104670812Rat
2316949Gluco60Glucose level QTL 603.7blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1014487011107057807Rat
1331791Cm31Cardiac mass QTL 313.84606heart mass (VT:0007028)heart wet weight (CMO:0000069)1029299504107211142Rat
1298078Stresp5Stress response QTL 52.990.00025blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)1042045676104670812Rat
61387Bp1Blood pressure QTL 15.1arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1051770177107211142Rat
61387Bp1Blood pressure QTL 15.1arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)1051770177107211142Rat
70171Cari1Carrageenan-induced inflammation QTL 14.90.0005hypodermis integrity trait (VT:0010550)inflammatory exudate volume (CMO:0001429)1053797385107211142Rat
2313103Bss80Bone structure and strength QTL 8020.0001tibia strength trait (VT:1000284)tibia midshaft endosteal cross-sectional area (CMO:0001716)1062057807107057807Rat
2313105Bss79Bone structure and strength QTL 791.80.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)1062057807107057807Rat
61449Ciaa2CIA Autoantibody QTL 27.1blood autoantibody amount (VT:0003725)calculated serum anti-type 2 collagen antibody titer (CMO:0001279)1063221094107211142Rat
2317029Aia19Adjuvant induced arthritis QTL 192.98joint integrity trait (VT:0010548)left rear ankle joint diameter (CMO:0002149)1066978955107211142Rat
2317039Aia6Adjuvant induced arthritis QTL 64.31joint integrity trait (VT:0010548)right rear ankle joint diameter (CMO:0002150)1066978955107211142Rat
10450498Bp384Blood pressure QTL 3840.002arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1067750049107211142Rat
1642980Bp300Blood pressure QTL 300arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1068383129107211142Rat
61396Bp9Blood pressure QTL 94.80.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1068420376107211142Rat
2300172Bmd57Bone mineral density QTL 579.80.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)1069738412107211142Rat
2293646Bss25Bone structure and strength QTL 2510.960.0001femur morphology trait (VT:0000559)femur cross-sectional area (CMO:0001661)1069738412107211142Rat
2293663Bss33Bone structure and strength QTL 339.340.0001femur strength trait (VT:0010010)femur midshaft polar moment of inertia (CMO:0001669)1069738412107211142Rat
6893366Bw106Body weight QTL 1060.30.47body mass (VT:0001259)body weight (CMO:0000012)1070199100107211142Rat
70193Mcs7Mammary carcinoma susceptibility QTL 72.38mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)1072224939107211142Rat
2298548Neuinf7Neuroinflammation QTL 73.4nervous system integrity trait (VT:0010566)spinal cord RT1-B protein level (CMO:0002132)1072224939107211142Rat
2292438Bp311Blood pressure QTL 311arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1076246085107211142Rat
1302404Cia27Collagen induced arthritis QTL 272.60.0045joint integrity trait (VT:0010548)experimental arthritis severity measurement (CMO:0001459)1076452683107211142Rat
4889492Pancm2Pancreatic morphology QTL 23.2pancreatic beta cell morphology trait (VT:0005217)ratio of insulin-positive cell area to total area of splenic region of pancreas (CMO:0001814)1076748906107211142Rat
2303589Bw87Body weight QTL 872body mass (VT:0001259)body weight (CMO:0000012)1081285008107211142Rat
2317754Glom25Glomerulus QTL 253.5urine protein amount (VT:0005160)urine protein level (CMO:0000591)1082685200107211142Rat
631538Oia5Oil induced arthritis QTL 5joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1087055121107211142Rat
61363Oia3Oil induced arthritis QTL 30.001joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1087307617107211142Rat
634320Niddm49Non-insulin dependent diabetes mellitus QTL 494.41blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)1088539139107211142Rat
12880395Cm109Cardiac mass QTL 1090.001heart right ventricle mass (VT:0007033)heart right ventricle weight to body weight ratio (CMO:0000914)1090404397107211142Rat
12880396Am13Aortic mass QTL 130.001aorta mass (VT:0002845)aorta weight to aorta length to body weight ratio (CMO:0002722)1090404397107211142Rat
12880398Kidm67Kidney mass QTL 670.001kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1090404397107211142Rat
12880384Cm107Cardiac mass QTL 1070.001heart mass (VT:0007028)heart wet weight to body weight ratio (CMO:0002408)90404397107211142Rat
12880385Cm108Cardiac mass QTL 1080.001heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)90404397107211142Rat
1579915Bp280Blood pressure QTL 2800.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1090404397107211142Rat
1300137Bp186Blood pressure QTL 1863.57arterial blood pressure trait (VT:2000000)blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)1090627439107057807Rat
724530Bp149Blood pressure QTL 1490.0001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1090627439107211142Rat
1558652Bw57Body weight QTL 574.20.0008body mass (VT:0001259)body weight (CMO:0000012)1090910316107211142Rat
1354641Bvd2Brain ventricular dilatation QTL 26.360.001brain ventricle morphology trait (VT:0000822)hydrocephalus severity score (CMO:0001881)1093223816107057807Rat
10450493Bp382Blood pressure QTL 3820.002arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1094759759107211142Rat
2292436Bp310Blood pressure QTL 310arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1094759759107211142Rat
1578663Bss18Bone structure and strength QTL 183.6femur width (VT:1000666)femoral neck width (CMO:0001695)1096703043107057807Rat
1578672Bmd16Bone mineral density QTL 166.2femur mineral mass (VT:0010011)cortical volumetric bone mineral density (CMO:0001730)1096703043107057807Rat
631539Oia6Oil induced arthritis QTL 6joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)1097010147104670812Rat


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 3 43 54 41 16 41 8 11 74 35 41 11 8
Low 3 3
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENSRNOT00000075796   ⟹   ENSRNOP00000064500
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl10104,529,747 - 104,546,836 (+)Ensembl
Rnor_6.0 Ensembl10108,395,860 - 108,413,059 (+)Ensembl
RefSeq Acc Id: NM_199118   ⟹   NP_954549
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
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
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
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  
  Q6P7A9 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
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)
- Sequence:
RefSeq Acc Id: ENSRNOP00000064500   ⟸   ENSRNOT00000075796
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
Ensembl Genes ENSRNOG00000047656 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein ENSRNOP00000064500 ENTREZGENE
  ENSRNOP00000064500.1 UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000075796 ENTREZGENE
  ENSRNOT00000075796.3 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.1180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:5599964 IMAGE-MGC_LOAD
InterPro Gal_mutarotase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gal_mutarotase_sf_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_31 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_31_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_31_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_31_N_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_trefoil_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_trefoil_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_trefoil_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:367562 UniProtKB/Swiss-Prot
MGC_CLONE MGC:72625 IMAGE-MGC_LOAD
NCBI Gene 367562 ENTREZGENE
Pfam Gal_mutarotas_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_31 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NtCtMGAM_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trefoil UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Gaa PhenoGen
PROSITE GLYCOSYL_HYDROL_F31_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLYCOSYL_HYDROL_F31_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_TREFOIL_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_TREFOIL_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00018 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF74650 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt 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