Gaa alpha glucosidase [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Gaaprovided by RGD
Official Full Name: alpha glucosidaseprovided by RGD
Primary source: RGD:735227
See related: Ensembl:ENSRNOG00000047656 AllianceGenome:RGD:735227
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: 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). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Brain (RPKM 312.1), Heart (RPKM 291.6) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 10q32.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	10	NC_086028.1 (105028106..105045365)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	10	NC_051345.1 (104529673..104546836)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	10	NC_005109.4 (108395873..108412999)

Chromosome 10 - NC_086028.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables alpha-1,4-glucosidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-1,4-glucosidase activity	IDA Inferred from Direct Assay more info	PubMed
enables alpha-1,4-glucosidase activity	IEA Inferred from Electronic Annotation more info
enables alpha-1,4-glucosidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables alpha-1,4-glucosidase activity	ISO Inferred from Sequence Orthology more info
enables alpha-glucosidase activity	ISO Inferred from Sequence Orthology more info
enables carbohydrate binding	IDA Inferred from Direct Assay more info	PubMed
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables maltose alpha-glucosidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in aorta development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within aorta development	ISO Inferred from Sequence Orthology more info
involved_in cardiac muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in diaphragm contraction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within diaphragm contraction	ISO Inferred from Sequence Orthology more info
involved_in diaphragm contraction	ISO Inferred from Sequence Orthology more info
involved_in glycogen catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycogen catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycogen catabolic process	IEA Inferred from Electronic Annotation more info
involved_in glycogen catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycogen catabolic process	ISO Inferred from Sequence Orthology more info
involved_in glycogen catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glycogen metabolic process	ISO Inferred from Sequence Orthology more info
involved_in glycophagy	IEA Inferred from Electronic Annotation more info
involved_in glycophagy	ISO Inferred from Sequence Orthology more info
involved_in heart morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within heart morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within locomotory behavior	ISO Inferred from Sequence Orthology more info
involved_in lysosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lysosome organization	ISO Inferred from Sequence Orthology more info
involved_in lysosome organization	ISO Inferred from Sequence Orthology more info
involved_in maltose metabolic process	IEA Inferred from Electronic Annotation more info
involved_in muscle cell cellular homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within muscle cell cellular homeostasis	ISO Inferred from Sequence Orthology more info
involved_in neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuromuscular process controlling balance	ISO Inferred from Sequence Orthology more info
involved_in neuromuscular process controlling posture	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuromuscular process controlling posture	ISO Inferred from Sequence Orthology more info
involved_in regulation of the force of heart contraction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of the force of heart contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within striated muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in tissue development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within tissue development	ISO Inferred from Sequence Orthology more info
involved_in vacuolar sequestering	IEA Inferred from Electronic Annotation more info
involved_in vacuolar sequestering	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in autolysosome lumen	IEA Inferred from Electronic Annotation more info
is_active_in autolysosome lumen	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: lysosomal alpha-glucosidase

Names: acid (Pompe disease, glycogen storage disease type II); acid alpha-glucosidase; acid maltase; glucosidase, alpha, acid; glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)

NP_954549.1

EC 3.2.1.20

XP_006247967.1

EC 3.2.1.20

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_199118.1 → NP_954549.1 lysosomal alpha-glucosidase precursor

See identical proteins and their annotated locations for NP_954549.1

Status: PROVISIONAL

Source sequence(s)

BC061753

UniProtKB/Swiss-Prot

Q6P7A9

Related

ENSRNOP00000064500.1, ENSRNOT00000075796.3

Conserved Domains (5) summary

cd06602
Location:359 → 717

GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase

cd14752
Location:246 → 359

GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)

pfam00088
Location:82 → 130

Trefoil; Trefoil (P-type) domain

pfam01055
Location:340 → 825

Glyco_hydro_31; Glycosyl hydrolases family 31

pfam16863
Location:147 → 253

NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086028.1 Reference GRCr8

Range

105028106..105045365

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006247905.4 → XP_006247967.1 lysosomal alpha-glucosidase isoform X1

See identical proteins and their annotated locations for XP_006247967.1

UniProtKB/TrEMBL

A6HL76, M0R544

Conserved Domains (5) summary

cd06602
Location:359 → 717

GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase

cd14752
Location:246 → 359

GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)

pfam00088
Location:82 → 130

Trefoil; Trefoil (P-type) domain

pfam01055
Location:340 → 825

Glyco_hydro_31; Glycosyl hydrolases family 31

pfam16863
Location:147 → 253

NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase