Tissue expression of GAA - Summary - The Human Protein Atlas

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GAA

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TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

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
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression with a granular pattern in several tissues.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Supported based on 2 antibodies. HPA026970 , HPA029126
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

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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