Cell atlas - GAA - The Human Protein Atlas

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GAA

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TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	GAA
Gene description	Glucosidase, alpha; acid
Protein class	Disease related genes Enzymes FDA approved drug targets Plasma proteins Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	4
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Mixed
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	GAA
Synonyms
Description	Glucosidase, alpha; acid (HGNC Symbol)
Entrez gene summary	This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Chromosome	17
Cytoband	q25.3
Chromosome location (bp)	80101556 - 80119879
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000171298 (version 83.38)
Entrez gene	2548
UniProt	P10253 (UniProt - Evidence at protein level)
neXtProt	NX_P10253
Antibodypedia	GAA antibodies

PROTEIN BROWSER

GAA-001	GAA-002	GAA-004	GAA-005

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
GAA-001 ENSP00000374665 ENST00000390015	P10253 [Direct mapping] Lysosomal alpha-glucosidase 76 kDa lysosomal alpha-glucosidase 70 kDa lysosomal alpha-glucosidase Show all	Enzymes ENZYME proteins Hydrolases MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins SignalP predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000023 [maltose metabolic process] GO:0002086 [diaphragm contraction] GO:0003824 [catalytic activity] GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0004558 [alpha-1,4-glucosidase activity] GO:0005764 [lysosome] GO:0005765 [lysosomal membrane] GO:0005975 [carbohydrate metabolic process] GO:0005980 [glycogen catabolic process] GO:0005985 [sucrose metabolic process] GO:0006006 [glucose metabolic process] GO:0007040 [lysosome organization] GO:0016020 [membrane] GO:0030246 [carbohydrate binding] GO:0032450 [maltose alpha-glucosidase activity] GO:0043181 [vacuolar sequestering] GO:0043202 [lysosomal lumen] GO:0044281 [small molecule metabolic process] GO:0060048 [cardiac muscle contraction] GO:0070062 [extracellular exosome] Show all	952 aa 105.3 kDa	No	0
GAA-002 ENSP00000305692 ENST00000302262	P10253 [Direct mapping] Lysosomal alpha-glucosidase 76 kDa lysosomal alpha-glucosidase 70 kDa lysosomal alpha-glucosidase Show all	Enzymes ENZYME proteins Hydrolases MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins SignalP predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000023 [maltose metabolic process] GO:0002026 [regulation of the force of heart contraction] GO:0002086 [diaphragm contraction] GO:0003007 [heart morphogenesis] GO:0003824 [catalytic activity] GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0004558 [alpha-1,4-glucosidase activity] GO:0005764 [lysosome] GO:0005765 [lysosomal membrane] GO:0005975 [carbohydrate metabolic process] GO:0005977 [glycogen metabolic process] GO:0005980 [glycogen catabolic process] GO:0005985 [sucrose metabolic process] GO:0006006 [glucose metabolic process] GO:0006941 [striated muscle contraction] GO:0007040 [lysosome organization] GO:0007626 [locomotory behavior] GO:0009888 [tissue development] GO:0016020 [membrane] GO:0030246 [carbohydrate binding] GO:0032450 [maltose alpha-glucosidase activity] GO:0043181 [vacuolar sequestering] GO:0043202 [lysosomal lumen] GO:0044281 [small molecule metabolic process] GO:0046716 [muscle cell cellular homeostasis] GO:0050884 [neuromuscular process controlling posture] GO:0050885 [neuromuscular process controlling balance] GO:0060048 [cardiac muscle contraction] GO:0070062 [extracellular exosome] Show all	952 aa 105.3 kDa	No	0
GAA-004 ENSP00000458306 ENST00000577106	I3L0S5 [Direct mapping] Lysosomal alpha-glucosidase Show all	MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins SignalP predicted secreted proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0016021 [integral component of membrane] Show all	208 aa 23 kDa	No	0
GAA-005 ENSP00000460543 ENST00000570803	I3L3L3 [Direct mapping] Lysosomal alpha-glucosidase Show all	MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins SignalP predicted secreted proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0005975 [carbohydrate metabolic process] GO:0016021 [integral component of membrane] GO:0030246 [carbohydrate binding] Show all	285 aa 31.7 kDa	No	0

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.